• 1991 University of Zagreb Faculty of Food Technology and Biotechnology, B.Sc.
• 1995 University of Zagreb Faculty of Science (field: Chemistry, branch: Biochemistry), M.Sc.
• 2000 University of Zagreb Faculty of Food Technology and Biotechnology, Ph.D.
• 2001-2004 St. Louis, MO, USA Washington University School of Medicine, post-doc.

Croatian Science Foundation – IP-2022-10-7325 (2023-2027)

Title: Endosome biogenesis in Niemann-Pick type C disease - ENDOGENESIS

Role: Principal Investigator

COGITO programme, Croatian-French research project (2019-2021)

Title: The molecular links between lipidome, brain vulnerability and apolipoprotein E

Role: Principal Investigator

Croatian Science Foundation – IP-06-2016-2799 (2017-2021)

Title: Molecular mechanism of neurodegeneration in Niemann-Pick type C

Role: Principal Investigator

Bilateral project between DAAD (Germany) and MZOS (HR) (2016-2017)

Title: Elucidating BACE1 as a potential target for treating Niemann-Pick type C disease

Role: Principal Investigator

Bilateral project between Croatia and Serbia (2016-2017)

Title: Elucidating BACE1-substrate processing and distribution in a transgenic mouse model of Alzheimer’s disease and their potential role in the disease pathogenesis

Role: Principal Investigator

Croatian Science Foundation (HRZZ) - “Projekt razvoja karijera mladih istraživača - izobrazba novih doktora znanosti” DOK-2018-01-7587 (2015-2018)

Role: Mentor

FP7-PEOPLE-2013-IEF (Marie Curie) (2014-2016)

Title: Presenilin 2 - a protector against Alzheimer's disease

Role: Coordinator

Swiss National Science Foundation - SCOPES: Joint Research Project (2014-2016)

Title: The molecular links between cholesterol homeostasis, membrane trafficking and Alzheimer's disease

Role: Principal Investigator

Croatian Science Foundation (HRZZ) - “PhD mentorship project” - DOK-2014-06-9815 (2014-2018)

Role: Mentor

Unity Through Knowledge Fund – UKF (2013-2015)

Title: Lysosomal dysfunction as a common mechanism of neurodegenerative diseases

Role: Principal Investigator

NIH -Fogarty International Research Collaboration Award - SAD (2005-2008)

Title:  The role of cholesterol in Alzheimer’s disease

Role: Principal Investigator

The John Douglas French Alzheimer's postdoctoral fellowship

Washington University School of Medicine, St. Louis, MO, USA (2002-2004)

Fulbright postdoctoral fellowship

Washington University School of Medicine, St. Louis, MO, USA (2001-2002)

• 1991 University of Zagreb dean's award for the best student work in the year 1990/91.
• 2001 Fulbright postdoctoral fellowship
• 2002 The John Douglas French Alzheimer’s Foundation postdoctoral fellowship
• 2005 NIH-Fogarty International Research Collaboration Award - USA
• 2008 Award J. J. Strossmayer (Croatian Academy of Sciences and Arts/ Zagreb fair), for the best publishing venture in science, for the book „Methods in molecular biology“by Andreja Ambriović Ristov (Editor-in-chief) and Anamaria Brozović, Branka Bruvo Mađarić, Helena Ćetković, Maja Herak Bosnar, Dubravka Hranilović, Silva Katušić, Hećimović, Nevenka Meštrović Radan, Snježana Mihaljević, Neda Slade, Dušica Vujaklija (Eds.).

• Lectures and laboratory practice of the "Polymerase Chain Reaction Method" at the course Methods in Biology and Medicine „DNA and RNA“ organized by Rudjer Boskovic Institute
• Lecturer of the course "Genetics of Neurodegenerative Diseases" at the graduate studies of the Faculty of Science, University of Zagreb
• Lecturer of the course "Genetics of Neurodegenerative Diseases" at the Interdisciplinary graduate studies Molecular Biosciences of the University „J.J. Strossmayera“ in Osijek and Ruđer Bošković Institute
• 2016 - Docent, Doctoral studies in "Molecular biosciences", J.J. Strossmayer University, Osijek

De Marchi F, Munitic I, Vidatic L, Papić E, Rački V, Nimac J, Jurak I, Novotni G, Rogelj B, Vuletic V, Liscic RM, Cannon JR, Buratti E, Mazzini L, Hecimovic S*. Overlapping Neuroimmune Mechanisms and Therapeutic Targets in Neurodegenerative Disorders. Biomedicines. 2023 Oct 14;11(10):2793. https://doi.org/10.3390/biomedicines11102793.

De Marchi F, Franjkic T, Schito P, Russo T, Nimac J, Chami AA, Mele A, Vidatic L, Kriz J, Julien JP, Apic G, Russell RB, Rogelj B, Cannon JR, Baralle M, Agosta F, Hecimovic S, Mazzini L, Buratti E, Munitic I. Emerging Trends in the Field of Inflammation and Proteinopathy in ALS/FTD Spectrum Disorder. Biomedicines. 2023 May 31;11(6):1599. https://doi.org/10.3390/biomedicines11061599.

Dominko K, Rastija A, Smiljanic K, Mladenovic A, Lešnjaković L, Kanazir S, Milanovic D, Hecimovic S*. Amyloid-ß plaque formation and BACE1 accumulation in the brains of a 5xFAD Alzheimer's disease mouse model is associated with altered distribution and not proteolysis of BACE1 substrates Sez6 and Sez6L. Mech Ageing Dev. 2022 Oct;207:111726. https://doi.org/10.1016/j.mad.2022.111726Get rights and content.

Dominko K, Rastija A, Sobocanec S, Vidatic L, Meglaj S, Lovincic Babic A, Hutter-Paier B, Colombo AV, Lichtenthaler SF, Tahirovic S, Hecimovic S*. Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation. Int J Mol Sci. 2021 Dec 9;22(24):13256. https://doi.org/10.3390/ijms222413256.

Van Hoecke L, Van Cauwenberghe C, Dominko K, Van Imschoot G, Van Wonterghem E, Castelein J, Xie J, Claeys W, Vandendriessche C, Kremer A, Borghgraef P, De Rycke R, Hecimovic S, Vandenbroucke RE. Involvement of the Choroid Plexus in the Pathogenesis of Niemann-Pick Disease Type C. Front Cell Neurosci. 2021 Oct 15;15:757482. https://doi.org/10.3389/fncel.2021.757482.

Colombo A, Dinkel L, Müller SA, Sebastian Monasor L, Schifferer M, Cantuti-Castelvetri L, König J, Vidatic L, Bremova-Ertl T, Lieberman AP, Hecimovic S, Simons M, Lichtenthaler SF, Strupp M, Schneider SA, Tahirovic S. (2021) Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia. Nat Commun 12, 1158 (2021). https://doi.org/10.1038/s41467-021-21428-5

Avrahami L, Paz R, Dominko K, Hecimovic S, Bucci C, Eldar-Finkelman H. (2020) GSK-3-TSC axis governs lysosomal acidification through autophagy and endocytic pathways. Cell Signal. 71:109597. doi: 10.1016/j.cellsig.2020.109597.

Dominko K, Dikic D, Hecimovic S. (2018) Enhanced activity of superoxide dismutase is a common response to dietary and genetically induced increased cholesterol levels. Nutr Neurosci. 1-13. doi: 10.1080/1028415X.2018.1511027.

Causevic M, Dominko K, Malnar M, Vidatic L, Cermak S, Pigoni M, Kuhn PH, Colombo A, Havas D, Flunkert S, McDonald J, Gunnersen JM, Hutter-Paier B, Tahirovic S, Windisch M, Krainc D, Lichtenthaler SF, Hecimovic S. (2018) BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains. PLoS One. 13(7):e0200344. doi: 10.1371/journal.pone.0200344.

Kosicek M, Gudelj I, Horvatic A, Jovic T, Vuckovic F, Lauc G, Hecimovic S. (2018) N-glycome of the lysosomal glycocalyx is altered in Niemann-Pick Type C disease model cells. Mol Cell Proteomics. pii: mcp.RA117.000129. doi: 10.1074/mcp.RA117.000129.

Cermak S, Kosicek M, Mladenovic-Djordjevic A, Smiljanic K, Kanazir S, Hecimovic S. (2016) Loss of Cathepsin B and L Leads to Lysosomal Dysfunction, NPC-Like Cholesterol Sequestration and Accumulation of the Key Alzheimer's Proteins. PLoS One. 11(11):e0167428. doi: 10.1371/journal.pone.0167428.

Drechsler S, Lynch MA, Novella S, González-Navarro H, Hecimovic S, Barini E, Tucci V, Castro RE, Vandenbroucke RE, Osuchowski M, Potter PK. (2016) With mouse age comes wisdom: A review and suggestions of relevant mouse models for age-related conditions. Mechanisms of Ageing and Development. 160:54-68. doi: 10.1016/j.mad.2016.07.005.

Malnar M, Hecimovic S, Mattsson M, Zetterberg H. (2014) Bidirectional links between Alzheimer's disease and Niemann-Pick type C disease. Neurobiology of Disease, Neurobiol Dis 72 Pt A: 37.

Kosicek M, Wunderlich P, Walter J, Hecimovic S. (2014) GGA1 overexpression attenuates amyloidogenic processing of APP in NPC1-null cells. Biochemical and Biophysical Research Communications, 450: 160-5.

Ting SK, Benzinger T, Kepe V, Fagan A, Coppola G, Porter V, Hecimovic S, Chakraverty S, Alvarez-Retuerto AI, Goate A, Ringman JM. (2014) A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman. Journal of Alzheimers Disease. 40: 271-5.

Kosicek M, Hecimovic S. (2013) Phospholipids and Alzheimer’s disease: alterations, mechanisms and potential biomerkers. International Journal of Molecular Sciences 14: 1310-22.

Mattsson N, Olsson M, Gustavsson MK, Kosicek M, Malnar M, Månsson JE, Blomqvist M, Gobom J, Andreasson U, Brinkmalm G, Vite C, Hecimovic S, Hastings C, Blennow K, Zetterberg H, Portelius E. (2012)  Amyloid-β metabolism in Niemann-Pick C disease models and patients. Metabolic Brain Disease. 27:573-585.

Malnar M, Kosicek M, Lisica A, Posavec M, Krolo A, Njavro J, Omerbasic D, Tahirovic S, Hecimovic S. (2012) Cholesterol-depletion corrects APP and BACE1 misstrafficking in NPC1-deficient cells. Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease1822: 1270-83.

Kosicek M, Zetterberg H, Andreasen N, Peter-Katalinic J, Hecimovic S. (2012) Elevated cerebrospinal fluid sphingomyelin levels in prodromal Alzheimer's disease. Neuroscience Letters 516: 302-5.

Malnar M, Kosicek M, Mitterreiter S, Omerbasic D, Lichtenthaler SF, Goate A, Hecimovic S. (2010) Niemann Pick type C cells show cholesterol dependent decrease of APP expression at the cell surface ad its increased processing through the beta-secretase pathway. Biochimica et Biophysica Acta (BBA) – Molecular Basis of Disease 1802: 682-91.

Kosicek M, Kirsch S, Bene R, Trkanjec Z, Titlic M, Bindila L, Peter-Katalinic J, Hecimovic S. (2010) Nano-HPLC-MS analysis of phospholipids in cerebrospinal fluid of Alzheimer's disease patients - a pilot study. Analytical and Bioanalytical Chemistry 398: 2929-37.

Kosicek M, Malnar M, Goate A, Hecimovic S. (2010) Cholesterol accumulation in Niemann Pick type C (NPC) model cells causes a shift in APP localization to lipid rafts. Biochemical and Biophysical Research Communications 393: 404-9.

Cam JA, Zerbinatti CV, Knisely JM, Hecimovic S, Yonghe L, Bu G (2004) The LDL receptor-related protein 1B retains APP at the cell surface and reduces amyloid-b peptide production. Journal of Biological Chemistry 279: 29639-46.

Hecimovic S, Wang J, Martinez M, Goate A (2004) Mutations in APP have independent effects on Ab and CTFg generation. Neurobiology of Disease 17: 205-218.

Wang J, Brunkan AL, Hecimovic S, Walker E, Goate A (2004) Conserved “PAL” sequence in presenilins is essential for g-secretase activity, but not required for formation or stabilization of g-secretase complex. Neurobiology of Disease 15: 654-666.

Schroeter EH, Ilagan MXG, Brunkan AL, Hecimovic S, Li Y-M, Xu M, Lewis HD, Saxena MT, De Strooper B, Coonrod A, Tomita T, Iwatsubo T, Moore CL, Shearman M, Goate A, Wolfe MS, Kopan R (2003) A presenilin dimer at the core of the gamma-secretase enzyme: insights from parallel analysis of Notch 1 and APP proteolysis. Proceedings of the National Academy of Sciences U S A 100: 13075-80.

Hećimović S, Barišić I, Muller A, Petković I, Barić I, Ligutić I, Pavelić K (1997) Expand Long PCR for fragile X mutation detection. Clinical Genetics 52: 147-154.

Priručnik

• Metode u molekularnoj biologiji / Ambriović Ristov, Andreja (ur.). Zagreb: Institut Ruđer Bošković, 2007

Izvorni znanstveni rad

• Wang, Jun ; Hećimović, Silva ; Goate, Alison | Alzheimer’s Disease // Encyclopedia of Molecular Cell Biology and Molecular Medicine. | New York (NY): John Wiley & Sons, 2004. str. 214-230

• Katušić Hećimović, Silva | Izdvajanje membranskih lipidnih domena (lipid rafts) // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 780-782

• Katušić Hećimović, Silva | Izdvajanje staničnih organela i dijelova stanice centrifugiranjem u gradijentu gustoće // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 777-780

• Katušić Hećimović, Silva | Izdvajanje staničnih organela i dijelova stanice diferencijalnim centrifugiranjem // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 773-776

• Katušić Hećimović, Silva | Priprema kompetentnih bakterija polietilenglikolom i transformacija // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 453-454

• Katušić Hećimović, Silva | Priprema kompetentnih bakterija kalcijevim kloridom i transformacija // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 450-453

• Katušić Hećimović, Silva | Mutageneza in vitro primjenom metode PCR // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 442-446

• Katušić Hećimović, Silva | Termostabilne DNA polimeraze // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 418-419

• Katušić Hećimović, Silva | Umnažanje odsječaka DNA bogatih C+G nukleotidima // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 370-371

• Katušić Hećimović, Silva | RFLP PCR // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 368-370

• Katušić Hećimović, Silva | Nested PCR // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 367-368

• Katušić Hećimović, Silva | Multipleks PCR // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 366-367

• Katušić Hećimović Silva | Osnovna metoda PCR // Metode u molekularnoj biologiji. | Zagreb: Institut Ruđer Bošković, 2007. str. 361-366

• Hećimović, Silva | Kliničke indikacije za analizu Huntingtonove bolesti metodama molekularne dijagnostike // Racionalna dijagnostika nasljednih i prirođenih bolesti. | Zagreb: Medicinska naklada, 2005. str. 89-94

• Hećimović, Silva ; Barišić, Nina ; Mitrović, Zoran | Racionalno korištenje metoda molekularne genetike u dijagnostici nasljednih ataksija // Racionalna dijagnostika nasljednih i prirođenih bolesti. | Zagreb: Medicinska naklada, 2005. str. 81-88

• Hećimović, Silva ; Barišić, Nina | Molekularna genetika u dijagnostici miotonične distrofije // Racionalna dijagnostika nasljednih i prirođenih bolesti. | Zagreb: Medicinska naklada, 2005. str. 75-79

• Brišić, Nina ; Sertić, Jadranka ; Hećimović, Silva | Molekularna genetika u dijagnostici mišićne distrofije Duchenne/Becker // Racionalna dijagnostika nasljednih i prirođenih bolesti. | Zagreb: Medicinska naklada, 2005. str. 71-74

• Hećimović, Silva | Sindrom fragilnog kromosoma X // Racionalna dijagnostika nasljednih i prirođenih bolesti. | Zagreb: Medicinska naklada, 2005. str. 51-54

Stručni rad

• Katušić Hećimović, Silva ; Čermak, Stjepko ; Malnar, Martina ; Barišić, Ingeborg | Miotonična distrofija tipa 1 // Genetičko informiranje u praksi. | Zagreb: Medicinska naklada, 2016. str. 219-222

• Katušić Hećimović, Silva ; Malnar, Martina | Molekularna analiza Huntingtonove bolesti // Genetičko informiranje u praksi. | Zagreb: Medicinska naklada, 2016. str. 209-212

• Katušić Hećimović, Silva ; Malnar, Martina ; Čermak, Stjepko ; Barišić, Ingeborg | Sindrom fragilnog X // Genetičko informiranje u praksi. | Zagreb: Medicinska naklada, 2016. str. 195-198

Izvorni znanstveni rad

• Dominko, Kristina ; Rastija, Ana ; Smiljanić, Kosara ; Mladenović, Aleksandra ; Lešnjaković, Lucija ; Kanazir, Selma ; Milanović, Desanka ; Hećimović, Silva | Amyloid-ß plaque formation and BACE1 accumulation in the brains of a 5xFAD Alzheimer's disease mouse model is associated with altered distribution and not proteolysis of BACE1 substrates Sez6 and Sez6L // Mechanisms of ageing and development, 207 (2022), 111726, 11. doi: 10.1016/j.mad.2022.111726

  doiwww.sciencedirect.comdoi.org

• Dominko, Kristina ; Rastija, Ana ; Sobočanec, Sandra ; Vidatić, Lea ; Meglaj, Sarah ; Lovinčić Babić, Andrea ; Hutter-Paier, Birgit ; Colombo, Alessio-Vittorio, ; Lichtenthaler, Stefan F. ; Tahirović, Sabina et al. | Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation // International journal of molecular sciences, 22 (2021), 24; 13256, 27. doi: 10.3390/ijms222413256

  doiwww.mdpi.comdoi.orgfulir.irb.hr

• Van Hoecke, L. ; Van Cauwenberghe, C. ; Dominko, Kristina ; Van Imschoot, G. ; Van Wonterghem, E. ; Castelein, J. ; Xie, J. ; Claeys, W. ; Vandendriessche, C. ; Kremer, A et al. | Involvement of the Choroid Plexus in the Pathogenesis of Niemann-Pick Disease Type C // Frontiers in Cellular Neuroscience, 15 (2021), 757482, 14. doi: 10.3389/fncel.2021.757482

  doiwww.frontiersin.orgdoi.orgfulir.irb.hr

• Colombo, A ; Dinkel, L. ; Müller, S. A. ; Sebastian Monasor, L. ; Schifferer, M. ; Cantuti-Castelvetri, L. ; König, J. ; Vidatić, Lea ; Bremova-Ertl, T. ; Lieberman, A. et al. | Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia // Nature communications, 12 (2021), 1; 1158, 20. doi: 10.1038/s41467-021-21428-5

  doiwww.nature.comdoi.orgfulir.irb.hr

• Avrahami, Limor ; Paz, Rom ; Dominko, Kristina ; Hećimović, Silva ; Bucci, Cecilia ; Eldar-Finkelman, Hagit | GSK-3-TSC axis governs lysosomal acidification through autophagy and endocytic pathways // Cellular signalling, 71 (2020), 109597, 11. doi: 10.1016/j.cellsig.2020.109597

  doiwww.sciencedirect.comfulir.irb.hr

• Čaušević, Mirsada ; Dominko, Kristina ; Malnar, Martina ; Vidatic, Lea ; Čermak, Stjepko ; Pigoni, Martina ; Kuhn, Peer-Hendrik ; Colombo, Alessio ; Havas, Daniel ; Flunkert, Stefanie et al. | BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains // PLoS One, 13 (2018), 7; e0200344, 22. doi: 10.1371/journal.pone.0200344

  doifulir.irb.hrjournals.plos.orgwww.ncbi.nlm.nih.gov

• Dominko, Kristina ; Đikić, Domagoj ; Hećimović, Silva | Enhanced activity of superoxide dismutase is a common response to dietary and genetically induced increased cholesterol levels // Nutritional neuroscience, 1 (2018), 1; 1-13. doi: 10.1080/1028415X.2018.1511027

  doidoi.orgwww.tandfonline.com

• Košiček, Marko ; Gudelj, Ivan ; Horvatić, Anita ; Jović, Tanja ; Vučković, Frano ; Lauc, Gordan ; Hećimović, Silva | N-glycome of the lysosomal glycocalyx is altered in Niemann-Pick Type C disease model cells // Molecular & cellular proteomics, 17 (2018), 4; 631-642. doi: 10.1074/mcp.RA117.000129

  doiwww.mcponline.orgwww.mcponline.org

• Cermak, Stjepko ; Kosicek, Marko ; Mladenovic-Djordjevic, Aleksandra ; Smiljanic, Kosara ; Kanazir, Selma ; Hecimovic, Silva | Loss of Cathepsin B and L Leads to Lysosomal Dysfunction, NPC-Like Cholesterol Sequestration and Accumulation of the Key Alzheimer's Proteins // PLoS One, 11 (2016), 11; e0167428-1-e0167428-17. doi: 10.1371/journal.pone.0167428

  doijournals.plos.orgfulir.irb.hr

• Drechsler, Susanne ; Lynch, Marina A ; Novella, Susana ; González-Navarro, Herminia ; Hećimović, Silva ; Barini, Erica ; Tucci, Valter ; Castro, Rui E ; Vandenbroucke, Roosmarijn E. ; Osuchowski, Marcin et al. | With mouse age comes wisdom: A review and suggestions of relevant mouse models for age-related conditions // Mechanisms of ageing and development, 160 (2016), 54-68. doi: 10.1016/j.mad.2016.07.005

  doiwww.sciencedirect.com

• Ting, Simon Kang Seng ; Benzinger, Tammie ; Kepe, Vladimir ; Fagan, Anne ; Coppola, Giovanni ; Porter, Verna ; Hećimović, Silva ; Chakraverty, Suma ; lvarez-Retuerto, Ana Isabel ; Goate, Alison et al. | A Novel PSEN1 Mutation (I238M) associated with Early-Onset Alzheimer's Disease in an African-American Woman // Journal of alzheimers disease, 40 (2014), 2; 271-275. doi: 10.3233/JAD-131844

  doicontent.iospress.com

• Dražić, Tonko ; Vazdar, Katarina ; Vazdar, Mario ; Đaković, Marijana ; Mikecin, Ana-Matea ; Kralj, Marijeta ; Malnar, Martina ; Hećimović, Silva ; Habuš, Ivan | Synthesis of new 2-aminoimidazolones with antiproliferative activity via base promoted amino-β-lactam rearrangement // Tetrahedron, 71 (2015), 49; 9202-9215. doi: 10.1016/j.tet.2015.10.048

  doiwww.sciencedirect.com

• Dražić, Tonko ; Sachdev, Vinay ; Leopold, Christina ; Patankar, Jay V. ; Malnar, Martina ; Hećimović, Silva ; Levak-Frank, Sanja ; Habuš, Ivan ; Kratky, Dagmar | Synthesis and evaluation of novel amide amino-β-lactam derivatives as cholesterol absorption inhibitors // Bioorganic & medicinal chemistry, 23 (2015), 10; 2353-2359. doi: 10.1016/j.bmc.2015.03.067

  doiwww.sciencedirect.comdx.doi.org

• Dražić, Tonko ; Molčanov, Krešimir ; Sachdev, Vinay ; Malnar, Martina ; Hećimović, Silva ; Patankar, Jay V. ; Obrowsky, Sascha ; Levak-Frank, Sanja ; Habuš, Ivan ; Kratky, Dagmar | Novel amino-β-lactam derivatives as potent cholesterol absorption inhibitors // European journal of medicinal chemistry, 87 (2014), 722-734. doi: 10.1016/j.ejmech.2014.10.014

  doibib.irb.hr

• Košiček, Marko ; Wunderlich, Patrick ; Walter, Jochen ; Hećimović, Silva | GGA1 overexpression attenuates amyloidogenic processing of the amyloid precursor protein in Niemann-Pick type C cells // Biochemical and biophysical research communications, 450 (2014), 1; 160-165. doi: 10.1016/j.bbrc.2014.05.083

  doiwww.ncbi.nlm.nih.govwww.sciencedirect.com

• Štefulj, Jasminka ; Perić, Maja ; Malnar, Martina ; Košiček, Marko ; Schweinzer, Cornelia ; Živković, Jelena ; Scholler, Monika ; Panzenboeck, Ute ; Hećimović, Silva | Pharmacological activation of LXRs decreases amyloid-β levels in Niemann-Pick type C model cells // Current pharmaceutical biotechnology, 14 (2013), 6; 582-593

  www.eurekaselect.com

• von Einem, Bjorn ; Weber, Petra ; Wagner, Michael ; Malnar, Martina ; Košiček, Marko ; Hećimović, Silva ; von Arnim, Christine ; Schneckenburger, Herbert | Cholesterol dependent energy transfer between fluorescent proteins - insights into protein proximity of APP and BACE1 in different membranes in Niemann-Pick type C disease cells // International journal of molecular sciences, 13 (2012), 12; 15801-15812. doi: 10.3390/ijms131215801

  doidoi.orgfulir.irb.hr

• Košiček, Marko ; Zetterberg, Henrik ; Andreasen, Niels ; Peter-Katalinić, Jasna ; Hećimović, Silva | Elevated cerebrospinal fluid sphingomyelin levels in prodromal Alzheimer’s disease // Neuroscience letters, 516 (2012), 2; 302-305. doi: 10.1016/j.neulet.2012.04.019

  doiwww.sciencedirect.comac.els-cdn.comdx.doi.org

• Mattsson, Niklas ; Olsson, Maria ; Gustavsson, Mikael K. ; Košiček, Marko ; Malnar, Martina ; Månsson, Jan-Eric ; Blomqvist, Maria ; Gobom, Johan ; Andreasson, Ulf ; Brinkmalm, Gunnar et al. | Amyloid-β metabolism in Niemann-Pick C disease models and patients // Metabolic brain disease, 27 (2012), 4; 573-585. doi: 10.1007/s11011-012-9332-8

  doiwww.springerlink.comlink.springer.com

• Malnar, Martina ; Košiček, Marko ; Lisica, Ana ; Posavec, Melanija ; Krolo, Ana ; Njavro, Jasenka ; Omerbašić, Damir ; Tahirović, Sabina ; Hećimović, Silva | Cholesterol-depletion corrects APP and BACE1 misstrafficking in NPC1-deficient cells // Biochimica et biophysica acta. Molecular basis of disease, 1822 (2012), 8; 1270-1283. doi: 10.1016/j.bbadis.2012.04.002

  doiac.els-cdn.comwww.sciencedirect.comdx.doi.org

• Reljić, Rajko ; Ries, Mihael ; Katušić, Silva ; Ries, Blanka | Comparative studies of some substituted anilines as alternative hydrogen donors in peroxidase reaction // Periodicum biologorum. Supplement, 93 (1991), 27-30

• Ringman, John M. ; Gylys, Karen H. ; Medina, Luis D. ; Fox, Michelle ; Kepe, Vladimir ; Flores, Deborah L. ; Apostolova, Liana G. ; Barrio, Jorge R. ; Small, Gary ; Silverman, Daniel H. et al. | Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation // Neuroscience letters, 487 (2011), 3; 287-292. doi: 10.1016/j.neulet.2010.10.039

  doidx.doi.orgwww.sciencedirect.com

• Košiček, Marko ; Kirsch, Stefan ; Bene, Raphael ; Trkanjec, Zlatko ; Titlić, Marina ; Bindila, Laura ; Peter-Katalinić, Jasna ; Hećimović, Silva | Nano-HPLC-MS analysis of phospholipids in cerebrospinal fluid of Alzheimer’s disease patients–a pilot study // Analytical & bioanalytical chemistry, 398 (2010), 7/8; 2929-2937. doi: 10.1007/s00216-010-4273-8

  doiwww.springerlink.com

• Košiček, Marko ; Malnar, Martina ; Goate, Alison ; Katušić Hećimović, Silva | Cholesterol accumulation in Niemann Pick type C (NPC) model cells causes a shift in APP localization to lipid rafts // Biochemical and biophysical research communications, 393 (2010), 3; 404-409. doi: 10.1016/j.bbrc.2010.02.007

  doiwww.sciencedirect.comdoi.org

• Hećimović, Silva ; Malnar, M ; Košiček, M ; Petek Karnik, Iva ; Trkanjec, Zlatko ; Titlić, Marina ; Demarin, Vida ; Goate, A | Amyloid-beta - from molecular biology to clinical practice // Neurologia Croatica. Supplement, 57 (2008), Suppl 4; 16-17

• Schroeter, E.H. ; Ilagan, M.X.G. ; Brunkan, A.L. ; Hećimović, Silva ; Li, Y-M ; Xu, M. ; Lewis, H.D. ; Saxena, M.T. ; De Strooper, B. ; Coonrod, A. et al. | A presenilin dimer at the core of the gamma-secretase enzyme : insights from parallel analysis of Notch 1 and APP proteolysis // Proceedings of the National Academy of Sciences of the United States of America, 100 (2003), 22; 13075-13080. doi: 10.1073/pnas.1735338100

  doiwww.pnas.org

• Malnar, Martina ; Košiček, Marko ; Bene, Raphael ; Petek Tarnik, Iva ; Pavelin, Sanda ; Babić, Ivana ; Brajenović-Milić, Bojana ; Hećimović, Hrvoje ; Titlić, Marina ; Trkanjec, Zlatko et al. | Use of cerebrospinal fluid biomarker analysis and apolipoprotein E genotyping for improving Alzheimer’s disease diagnosis in a non-specialized setting // Acta neurobiologiae experimentalis, 72 (2012), 3; 264-271

  www.ane.pl

• Malnar, Martina ; Košiček, Marko ; Mitterreiter, Stefan ; Omerbašić, Damir ; Lichtenthaler, Stefan F. ; Goate, Alison ; Hećimović Katušić, Silva | Niemann Pick type C cells show cholesterol dependent decrease of APP expression at the cell surface and its increased processing through the β-secretase pathway // Biochimica et biophysica acta. Molecular basis of disease, 1802 (2010), 7-8; 682-691. doi: 10.1016/j.bbadis.2010.05.006

  doiwww.sciencedirect.comdoi.org

• Đokić, Helena ; Barišić, Ingeborg ; Čulić, Vida ; Lozić, Bernarda ; Hećimović, Silva | Haplotype and AGG Interspersion Analysis of the FMR1 Alleles in Croatian Population: no founder effect detected in patients with fragile X syndrome // Human biology, 80 (2008), 5; 581-587

• Klepac, Nataša ; Relja, Maja ; Klepac, Ratimir ; Hećimović, Silva ; Babić, Tomislav ; Trkulja, Vladimir | Oxidative stress parameters in plasma of Huntington's disease patients, asymptomatic Huntington’ s disease gene carriers and healthy subjects // Journal of neurology, 254 (2007), 12; 1676-1683. doi: 10.1007/s00415-007-0611-y

  doi

• Hećimović, Silva ; Klepac, Nataša ; Vlašić, Jelena ; Vojta, Aleksandar ; Janko, Dolores ; Škarpa- Prpić, Ingrid ; Canki-Klain, Nina ; Marković, Dubravko ; Božikov, Jadranka ; Relja, Maja et al. | Genetic background of Huntington disease in Croatia: molecular analysis of CAG, CCG, and delta 642 (E2642del)polymorphisms // Human mutation, 20 (2002), 3; 233-241. doi: 10.1002/humu.9055

  doiwww3.interscience.wiley.com

• Song, H. ; Hećimović, Silva ; Goate, A. ; Hsu, F.F. ; Bao, S. ; Vidavsky, I. ; Ramanadham, S. ; Turk, J. | Characterization of N-terminal processing of group VIA phospholipase A2 and of potential cleavage sites of amyloid precursor protein constructs by automated identification of signature peptides in LC/MS/MS analyses of proteolytic digests // Journal of the American Society for Mass Spectrometry, 15 (2004), 1780-1793-x

• Hećimović, Silva ; Wang, J ; Martinez, M ; Goate, A | Mutations in APP have independent effects on Abeta and CTFgamma generation // Neurobiology of disease, 17 (2004), 205-218. doi: 10.1016/j.nbd.2004.04.018

  doiwww.sciencedirect.com

• Cam, J.A. ; Zerbinatti, C.V. ; Knisley, J.M. ; Hećimović, Silva ; Yonghe, L. ; Bu, G. | The LDL receptor-related protein 1B retains APP at the cell surface and reduces amyloid-beta peptide production // The Journal of biological chemistry, 279 (2004), 29639-29646-x

• Wang, J ; Brunkan, AL ; Hećimović, Silva ; Walker, E ; Goate, A | Conserved "PAL" sequence in presenilins is essential for gamma-secretase activity, but not required for formation or stabilization of gamma-secretase complex // Neurobiology of disease, 15 (2004), 654-666-x

• Petković, Iskra ; Barišić, Ingeborg ; Bastić, Mislav ; Hećimović, Silva ; Bago, Ružica | Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother // American journal of medical genetics. Part A, 120A (2003), 2; 266-271. doi: 10.1002/ajmg.a.20017

  doionlinelibrary.wiley.com

• Barišić, Ingeborg ; Marušić-Della Marina, Branka ; Hećimović, Silva ; Lujić, Lucija ; Gjergja-Matejić, Romana | Epilepsija i EEG zapisi u bolesnika s mutacijomm u FMR1 genu // Paediatria Croatica, 43 (1999), 3; 105-110-x

• Hećimović, Silva ; Bago, Ružica ; Mužinić, Dubravka ; Begović, Davor ; Pavelić, Krešimir | The first case of the FRAXE form of inherited mental retardation in Croatia // European journal of pediatrics, 161 (2002), 2; 112-113-x

• Hećimović, Silva ; Petek Tarnik, Iva ; Barić, Ivo ; Čakarun, Ž. ; Pavelić, Krešimir | Screening for fragile X syndrome: results from a school for mentally retarded children // Acta paediatrica, 91 (2002), 5; 535-539-x

• Hećimović, Silva ; Vlašić, Jelena ; Barišić, Ingeborg ; Marković, Dubravko ; Čulić, Vida ; Pavelić, Krešimir | A simple and rapid analysis of triplet repeat diseases by Expand Long PCR // Clinical chemistry and laboratory medicine, 39 (2001), 12; 1259-1262

• Hećimović, Silva ; Barišić, Ingeborg ; Marković, Dubravko ; Škarpa, Ingrid ; Relja, Maja ; Pavelić, Krešimir | Trinucleotide Repeat Diseases - DNA molecular analysis using a simple Expand Long PCR assay // Periodicum biologorum, 100 (1998), 3; 353-360-x

• Tanacković, Goranka ; Barišić, Ingeborg ; Gjergja-Matejić, Romana ; Hećimović, Silva ; Pavelić, Jasminka | the incidence of cystic fibrosis (CF) mutations among patients from Croatia // Clinical genetics, 58 (2000), 4; 333-335-x

• Hećimović, Silva ; Barišić, Ingeborg ; Pavelić, Krešimir | DNA analysis of the fragile X syndrome in an at risk pediatric population in Croatia: simple clinical preselection criteria can considerably improve the cost-effectiveness of fragile X screening studies // Human heredity, 48 (1998), 5; 256-265

• Hećimović, Silva ; Barišić, Ingeborg ; Mueller, Andreas ; Petković, Iskra ; Barić, Ivo ; Ligutić, Ivo ; Pavelić, Krešimir | Expand long PCR for fragile X mutation detection // Clinical genetics, 52 (1997), 3; 147-154-x

Pregledni rad (znanstveni)

• De Marchi, Fabiola; Munitic, Ivana; Vidatic, Lea; Papić, Eliša; Rački, Valentino; Nimac, Jerneja; Jurak, Igor; Novotni, Gabriela; Rogelj, Boris; Vuletic, Vladimira et al. | Overlapping Neuroimmune Mechanisms and Therapeutic Targets in Neurodegenerative Disorders // Biomedicines, 11 (2023), 10; 2793-2793. doi: 10.3390/biomedicines11102793

  doiwww.mdpi.comwww.mdpi.com

• Barišić, I ; Marušić–Dellamarina, B ; Hećimović, S ; Lujić, L ; Gjergja-Matejić, R. | Ethics in clinical practice - before and today // Paediatria Croatica, 43 (1999), 1;

  www.paedcro.com

• Malnar, Martina ; Hećimović, Silva ; Mattsson, Niklas ; Zetterberg, Henrik | Bidirectional links between Alzheimer's disease and Niemann-Pick type C disease // Neurobiology of disease, 72 (2014), Part A; 37-47. doi: 10.1016/j.nbd.2014.05.033

  doiwww.sciencedirect.comdx.doi.org

• Košiček, Marko ; Hećimović, Silva | Phospholipids and Alzheimer’s disease: alterations, mechanisms and potential biomarkers // International journal of molecular sciences, 14 (2013), 1; 1310-1322. doi: 10.3390/ijms14011310

  doidoi.orgfulir.irb.hr

• Malnar, Martina ; Košiček, Marko ; Hećimović, Silva | Alzheimerova bolest: od molekularnog mehanizma do rane dijagnoze // Medicina : glasilo Hrvatskoga liječničkoga zbora, Podružnica Rijeka, 45 (2009), 3; 234-243

  hrcak.srce.hr

• Barišić, Ingeborg ; Petković, Iskra ; Hećimović, Silva | Evaluacija genetičkih uzroka mentalne retardacije // Liječnički vjesnik : glasilo Hrvatskoga liječničkog zbora, 125 (2003), 3-4; 71-77

Ispravak

• Ringman, John M. ; Gylys, Karen H. ; Medina, Luis D. ; Fox, Michelle ; Kepe, Vladimir ; Flores, Deborah L. ; Apostolova, Liana G. ; Barrio, Jorge R. ; Small, Gary ; Silverman, Daniel H. et al. | Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation (Neurosci. Lett. 487 (2011) 287–292) // Neuroscience letters, 491 (2011), 2; 163-163. doi: 10.1016/j.neulet.2011.01.021

  doiwww.sciencedirect.com

Pregledni rad (stručni)

• Ahel, Marijan ; Antičić, Tome ; Balog, Tihomir ; Bilić, Nevenko ; Guberina, Branko ; Katušić Hećimović, Silva ; Jerić, Ivanka ; Klanjšček, Tin ; Legović, Tarzan ; Musić, Svetozar et al. | The Ruder Boskovic Institute – Today and Tomorrow // Periodicum biologorum, 112 (2010), 4; 369-374

  hrcak.srce.hr

Sažetak izlaganja sa skupa

• Katušić Hećimović, Silva | Deciphering molecular links between Alzheimer’s disease and Niemann-Pick type C disease // Joint ICGEB – ALS Society of Canada Symposium on Inflammation and Proteinopathy in ALS/FTD Spectrum Disorder : Abstract Book. | Rijeka: Department of Biotechnology, University of Rijeka, 2022. str. 25-25

  www.icgeb.orgwww.optineurin-neuroimmunology.uniri.hr

• Hećimović, Silva | The links between Alzheimer's disease and Niemann-Pick type C disease // Abstracts of papers presented at the 2020 virtual meeting on Neurodegenerative Diseases: Biology & Therapeutics. | Lahti: Cold Spring Harbor Laboratory (CSHL), 2020. str. 154-154

  meetings.cshl.edu

• Vidatic, Lea ; Zovko, Ana ; Lasic, Domagoj ; Tipuric, Sandra ; Rastija, Ana ; Hecimovic, Silva | Aged mice carriers of a recessive neurodegenerative disorder Niemann-Pick type C show tau hyperphosphorylation, endolysosomal dysfunction and neuroinflammation // Abstracts of papers presented at the 2020 meeting on neurodegenerative diseases : biology & therapeutics. | Lahti: Cold Spring Harbor Laboratory (CSHL), 2020. str. 322-322

• Rastija, Ana ; Vidatić, Lea ; Tahirović, Sabina ; Lichtenthaler, Stefan F. ; Hećimović, Silva | Cleavage by BACE1 is upregulated in murine primary neurons of a rare neurodegenerative disorder Niemann-Pick type C // Abstracts of papers presented at the 2020 meeting on neurodegenerative diseases : biology & therapeutics. | Lahti: Cold Spring Harbor Laboratory (CSHL), 2020. str. 266-266

• Rastija, Ana ; Meglaj, Sarah ; Tahirovic, Sabina ; Lichtenthaler, Stefan F. ; Hecimovic, Silva | Enhanced proteolysis by the Alzheimer's protease BACE1 in NPC1 mouse brains is due to sequestration of its substrates within early endosomes. | 2021. str. 157-157

• Dominko, Kristina ; Katušić Hećimović, Silva | Retromer (dys)function in Niemann-Pick type C disease models // The 6. Croatian Neuroscience Congress with international participation. | 2017. str. 77-77

• Košiček, Marko; Jović, Tanja; Hećimović, Silva | Isolation and characterization of lysosomes in NPC model cells // FEBS Advanced lecture Course ; 360o Lysosome: from structure to genomics, from function to disease. | Izmir: Ege University, 2014. str. 80-80

• Dominko, Kristina ; Malnar, Martina ; Đikić, Domagoj ; Hećimović, Silva | Cholesterol-mediated oxidative stress in Niemann-Pick type C disease involves a defect in the activity of superoxide dismutase // Book of abstracs Congress of the Croatian Society of Biochemistry and Molecular Biology - HDBMB2014. | Zadar: Hrvatsko društvo za biokemiju i molekularnu biologiju (HDBMB), 2014. str. 87-87

• Hećimović, Silva ; Košiček, Marko ; Malnar, Martina | Cholesterol Levels Modulate Endosomal Localization of BACE1. | 2013

• von Arnim, Christine ; von Einem, Bjorn ; Weber, Petra ; Wagner, Michael ; Malnar, Martina ; Košiček, Marko ; Hećimović, Silva ; Schneckenburger, Herbert | Protein Proximity of APP and BACE1 and Membrane Stiffness Is Altered in Different Membranes in Niemann-Pick Type C Disease Cells. | 2013

• Košiček, Marko ; Bindila, Laura ; Peter-Katalinić, Jasna ; Hećimović, Silva | Cerebrospinal fluid lipidomics in Alzheimer's disease // FEBS/IUBMB workshop : Eukaryotic lipids : Treasure of Regulatory Information : Abstracts. | 2010

• Malnar, Martina ; Košiček, Marko ; Goate, Alison ; Hećimović Silva | Cholesterol effect on formation of amyloid-b peptide upon NPC1 dysfunction // Workshop Adenoviruses Basic to Gene Therapy : programme and abstracts. | Zagreb: Hrvatsko mikrobiološko društvo, 2008. str. 29-29

• Malnar, Martina ; Košiček, Marko ; Hećimovicć, Silva | Cholesterol accumulation upon NPC1 dysfunction alters APP expression at the cell surface leading to its increased processing through the β-secretase pathway // FEBS Advanced Course: Lipid signaling and disease 2009. | 2009

• Krolo, Ana ; Lisica, Ana ; Malnar, Martina ; Košiček, Marko ; Hećimović, Silva | Accumulation of cholesterol in Niemann Pick type C cells alters APP distribution within endosome compartments // FEBS Advanced Course: Lipid signaling and disease 2009. | 2009

• Posavec, Melanija ; Krolo, Ana ; Omerbašić, Damir ; Lisica, Ana ; Malnar, Martina ; Košiček, Marko ; Hećimović, Silva | Cholesterol accumulation upon NPC1 dysfunction alters endosomal compartmentalization of β-amyloid precursor protein // EMBO Young Scientists Forum 2009. | 2009

• Košiček, Marko ; Goate, Alison ; Hećimović, Silva | The role of lipid rafts on app processing in NPC1-null cells // Workshop Adenoviruses Basic to Gene Therapy : programme and abstracts. | Zagreb: Hrvatsko mikrobiološko društvo, 2008. str. 18-18

• Hećimović, Silva ; Omerbašić, Damir ; Posavec, Melanija ; Malnar, Martina ; Košiček, Marko ; Goate, Alison | Cholesterol accumulation upon NPC1 dysfunction alters trafficking of APP/C99 // The 2008 Golgi Meeting. | 2008. str. 105-105

• Malnar, Martina ; Goate, Alison ; Hećimović, Silva | Increased formation of Aβ in CHO-NPC1 KO cells is not related to cholesterol levels solely // Book of Abstracts - 2nd Summer Course on Mass Spectrometry in Biotechnology and Medicine. | 2007. str. 63-63

• Hećimović, S ; Ory, D ; Goate, A | Cholesterol levels modulate formation of AICD as well as Abeta. | 2005

• Hećimović, Silva ; Wang, J ; Martinez, M ; Goate, A | APP intracellular domain (CTFgamma/AICD) is generated by BACE1-dependent pathway, but is independent of Abeta generation // Society for Neuroscience, program No. 406.14. | Washington (MD), 2003

• Brunkan, AL ; martinez, M ; Hećimović, Silva ; Goate, A | Presenilin-1 V96 is important for gamma-secretase activity // Society for Neuroscience. | Washington (MD), 2003

• Hećimović, Silva ; Wang, J ; Martinez, M ; Goate, A | Abeta and s3-like cleavage are independent processes within the TM-domain of APP // Society for Neuroscience, Program No. 122.10. | Washington (MD), 2002

• Gjergja, Romana ; Barišić, Ingeborg ; Hećimović, Silva ; Tanacković, Goranka ; Sertić, Jadranka ; Knežević, Jadranka ; Pavelić, Krešimir | Cystic fibrosis mutations in Croatian patients // The secnond European-American intensive course in clinical and forensic genetics. | Zagreb: -, 2001. str. 99-99-x

• Petković, Iskra ; Barišić, Ingeborg ; Bago, Ružica ; Hećimović, Silva | Paternal origin of der(X)t(X ; 6) in a girl with trisomy 6p // European Human Genetics Conference 2002 in conjunction with EMPAG 2002 - European Meeting on Psychosocial Aspects of Genetics 2002. : Abstracts. European Journal of Human Genetics. 10(Suppl 1), 2002. | 2002. str. 143-143-x

• Petković, Iskra ; Barišić, Ingeborg ; Bago, Ružica ; Hećimović, Silva | Cytogenetic, FISH and molecular analysis in the girl with unbalanced t(X ; 6) and her mother presenting t(6 ; 10) // The Second European-American Intensive Course in Clinical and Forensic Genetics. | Zagreb, 2001. str. 125-125-x

• Bago, Ružica ; Hećimović, Silva ; Barišić, Ingeborg ; Čulić, Vida ; Pavelić, Krešimir | Different distribution of DXS548 and FRAXAC1 haplotypes between normal and fragile X population in Croatia // 2nd International Conference on Signal Transduction. European Journal of Human Genetics 9(1), 2001. | 2001. str. 284-284-x

• Gjergja, Romana ; Barišić, Ingeborg ; Hećimović, Silva ; Tanacković, Goranka ; Sertić, Jadranka ; Knežević, Jasna ; Milić, Ana ; Pavelić, Krešimir | Genotype-phenotype correlation in Croatian cystic fibrosis patients // 2nd International Conference on Signal Transduction. European Journal of Human Genetics 9(1), 2001. | 2001. str. 205-205-x

Izvorni znanstveni rad

• Hećimović, Silva | Fragile X syndrome – from genotype to phenotype // Suvremene spoznje u dijagnostici i liječenju genetičkih bolesti - mentalna retardacija i razvojno zaostajanje. | 2007

Sažetak izlaganja sa skupa

• Čermak, Stjepko; Čaušević, Mirsada; Kuhn, Peer-Hendrik; Gunnersen, Jenny; Hutter-Paier, Birgit; Windisch, Manfred; Lichtenthaler, Stefan; Hećimović, Silva | Altered metabolism of BACE1 substrates seizure protein 6 and seizure 6-like protein 1 in Niemann-Pick type C disease // Alzheimer's & Dementia, 10, 4S part 15, 2014. str. P877-P878

• Štefulj, Jasminka ; Malnar, Martina ; Schweinzer, Cornelia ; Košiček, Marko ; Živković, Jelena ; Panzenboeck, Ute ; Hećimović Katušić, Silva | The impacts of LXR ligand TO901317 on amyloid-β levels and cholesterol metabolism in Niemann-Pick type C (NPC) model cells // Alzheimer's & Dementia, 2011. str. e72-e72. doi: 10.1016/j.jalz.2011.09.157

  doiwww.alzheimersanddementia.comdoi.org

• Kosicek, Marko ; Hecimovic, Silva ; Kirsch, Stephan ; Bene, Raphael ; Trkanjec, Zlatko ; Titlic, Marina ; Bindila, Laura ; Peter-Katalinic, Jasna | Sphingomyelin is elevated in cerebrospinal fluid of Alzheimer's disease patients // Alzheimer's & Dementia, 2011. str. 140-140

  www.alzheimersanddementia.com

• Malnar, Martina ; Lisica, Ana ; Hećimović, Silva | Lipid traffic jam in Niemann Pick type C disease causes altered endocytosis of APP // Alzheimer's & Dementia, 2011. str. 390-390

  www.alzheimersanddementia.com

• Walker, Emily S. ; Martinez, Maribel ; Brunkan, Anne ; Hećimović, Silva ; Wang, Jun ; Goate, Alison | Presenilin 2 familial Alzheimer's disease mutations decrease A beta and CTF gamma while differentially affecting NICD production // Neurobiology of aging, 2004. str. S563-S563

  www.sciencedirect.com

• Bago, Ružica ; Hećimović, Silva ; Barišić, Ingeborg ; Ćulić, Vida ; Pavelić, Krešimir | Different distribution of DXS548 and FRAXAC1 haplotypes between normal and fragile X populaton in Croatia // European journal of human genetics, 2001. str. 284-284

• Gjergja, R. ; Barišić, Ingeborg ; Hećimović, Silva ; Tanacković, Goranka ; Sertić, Jandranka ; Knežević, Jelena ; Milić, Astrid ; Pavelić, Krešimir | Genotype-phenotype correlaton in Croatian Cystic Fibrosis Patients // European journal of human genetics, 2001. str. 205-205

• Hećimović, Silva ; Bago, Ružica ; Mužinić, Dubravka ; Begović, Davor ; Pavelić, Krešimir | The first case of FRAXE mental retardation in Croatia // European journal of human genetics, 2001. str. 178-178

• Malnar, Martina ; Steiner, Harald ; Lammich, Sven ; Hećimović, Silva | Gamma-Secretase Substrates APP, Notch1 and CD44 Show Distinct Processing in NPC Cells // Alzheimer's & Dementia, 2009. str. 223-223

• Lisica, Ana ; Krolo, Ana ; Malnar, Martina ; Košiček, Marko ; Hećimović, Silva | Loss of NPC1 leads to decreased expression of APP at the cell surface and alters APP distribution within endosome compartments // Alzheimer's & Dementia, 2009. str. 301-301

• Košiček, Marko ; Hećimović, Silva | Cholesterol accumulation in NPC fibroblasts leads to lipid raft comartmentalization of APP and C99 // Alzheimer's & Dementia, 2009. str. 225-225

• Hećimović, Silva ; Bene, Raphael ; Pavelin, Sanda ; Titlić, Marina ; Trkanjec, Zlatko ; Demarin, Vida | Cerebrospinal fluid biomarker analysis in Alzheimer's disease // Neurologia Croatica. Supplement, 2009. str. 67-67

• Hećimović, Silva ; Bene, H ; Pavelin, Sanda ; Titlić, Marina ; Trkanjec, Zlatko ; Demarin, vida | Cerebrospinal fluid biomarker analysis in Alzheimers disease // Neurologia Croatica. Supplement, 2009. str. 67-67

• Canki-Klain, Nina ; Lessel, Davor ; Šikić, Nada ; Hećimović, Silva ; Votava-Raić, Ana ; Radoš, Marko | Speech and Language Delay as Early Manifestations of Juvenile Huntington's Disease // Neurologia Croatica, 2007. str. 97-98

• Malnar, Martina ; Petek Tarnik, Iva ; Košiček, Marko ; Pavelin, Sanda ; Titlić, Marina ; Trkanjec, Zlatko ; Demarin, Vida ; Hećimović, Silva | Cerebrospinal fluid biomarker analysis in Alzheimer's disease : a pilot study in Croatia // Paediatria Croatica. Supplement, 2009. str. 69-69

• Hećimović, Silva ; Malnar, Martina ; Košiček, Marko ; Čulić, Vida ; Lozić, Bernarda ; Barišić, Ingeborg | The fragile X syndrome : a Croatian perspective // Paediatria Croatica. Supplement, 2009. str. 56-56

• Košiček, Marko ; Goate, Alison ; Katušić Hećimović, Silva | The role of lipid rafts on app processing and Amyloid-β formation // Neurologia Croatica. Supplement, 2008. str. 70-70

• Hećimović, Silva ; Malnar, Martina ; Košiček, Marko ; Petek Tarnik, Iva ; Trkanjec, Zlatko ; Titlić, Marina ; Demarin, Vida ; Goate, Alison | Amyloid-β : from molecular biology to clinical practice // Neurologia Croatica. Supplement, 2008. str. 16-17

• Malnar, Martina ; Košiček, Marko ; Goate, Alison ; Hećimović, Silva | The cholesterol-effect on amyloid-β formation upon NCP1 dysfunction involves altered APP localization // Neurologia Croatica. Supplement, 2008. str. 71-71

• Posavec, Melanija ; Omerbašić, Damir ; Goate, Alison ; Hećimović, Silva | Subcellular Distribution Of APP/C99 And Amyloid-beta Peptide Is Altered In CHO NPC1-null Cells Compared To CHOwt // Alzheimer's & Dementia, 2008. str. T353-T353

• Košiček, Marko ; Goate, Alison ; Hećimović, Silva | Increased Formation Of Amyloid-beta Peptide In CHO NPC1-null Cells Does Not Involve Lipid Rafts // Alzheimer's & Dementia, 2008. str. T350-T350

• Malnar, Martina ; Košiček, Marko ; Goate, Alison ; Hećimović, Silva | Increased Abeta Formation In CHO NPC1-null Cells Is Not Directly Related To Cholesterol Levels // Alzheimer's & Dementia, 2008. str. T349-T349

• Bošnjak, Jelena ; Jurašić, Miljenka Jelena ; Hećimović, Silva ; Miškov, Snježana ; Čović-Negovetić, Ružica ; Demarin, Vida | Outcome of patients with epileptic seizures as the first symptom of acute stroke // European journal of neurology, 2007

• Hećimović, Silva ; Wang, J. ; Dolios, C. ; Martinez, M. ; Wang, R. ; Goate, A. | Mutagenesis of APP reveals no correlation between Abeta and AICD production // Neurobiology of aging, 2004. str. S552-S552

  www.sciencedirect.com

• Walker, E. ; Hećimović, Silva ; Goate, A. | Processing and activity of two naturally occuring splice variants of presenilin 2 // Neurobiology of aging, 2002. str. S216-S217

  www.sciencedirect.com

Izvorni znanstveni rad

• Bauer, Vladimir ; Mitrović, Zoran ; Sertić, Jadranka ; Canki-Klain, Nina ; Hećimović, Silva ; Jurenić, Dubravka ; Vranješ, Davorka ; Žagar, Marija ; Šoštarko, Marija | Klničke osobitosti miotonične distrofije (DM1) // Neurologia Croatica. Supplement, 2004. str. 114-115-x

• Bago, Ružica ; Hećimović, Silva ; Barišić, Ingeborg ; Pavelić, Jasminka | Dijagnostika sindroma fragilnog X kromosoma metodama molekularne medicine // Paediatria Croatica. Supplement, 2004. str. 24-x

• Canki-Klain, Nina ; Miličić, Davor ; Hećimović, Silva ; Tanačković, Goranka ; Récan, Dominique ; Llense, Stephane ; Barbot, Jean-Claude ; Leturcq, F. ; Kaplan, Jean-Claude ; Šoštarko, Marija et al. | DNA analysis : contribution to diagnosis in advanced stages of DMD/BMD // Acta myologica, 2000. str. 120-x

Neobjavljeni prilog sa skupa

• Katušić, Silva | Which comes first: neuroinflammation or neurodegeneration – the case of juvenille Alzheimer’s disease // 8th Rijeka Forum on Neurodegenerative Diseases | Rijeka, Hrvatska, 16.09.2024-17.09.2024

  neurolab.uniri.hr

• Vidatić, Lea; Blažević, Božana; Katušić, Silva | Neuroinflammation precedes neurodegeneration in a mouse model of Niemann Pick type C disease // 8th Rijeka Forum on Neurodegenerative Diseases | Rijeka, Hrvatska, 16.09.2024-17.09.2024

• Vidatić, Lea; Katušić Hećimović, Silva | Genetic depletion of BACE1 alters neuroinflammation in a knock-in mouse model of Niemann-Pick type C disease // Joint ICGEB – ALS Society of Canada Symposium on Inflammation and Proteinopathy in ALS/FTD Spectrum Disorder | Rijeka, Hrvatska, 30.06.2022-03.07.2022

• Vidatić, Lea; Katušić Hećimović, Silva | BACE1 as a molecular target against neurodegeneration // 7th Rijeka Forum on Neurodegenerative Diseases | Rijeka, Hrvatska, 17.09.2023-20.09.2023

• Hecimovic, Silva ; Dominko, Kristina ; Vidatic, Lea ; Rastija, Ana | Dysfunction of the endolysosomal pathway is a common feature of neurodegenerative diseases // FEBS Advanced Course - Molecular targets for anti-aging interventions | Spétses, Grčka, 26.09.2022-01.10.2022

• Hecimovic, Silva ; Dominko, Kristina ; Rastija, Ana ; Meglaj, Sarah ; Vidatić, Lea ; Babić, Andrea ; Colombo, Alessio ; Tahirovic, Sabina ; Hecimovic, Silva | Retromer function is impaired in Niemann-Pick type C disease and is dependent on intracellular cholesterol accumulation // New Horizons in Alzheimer's Disease (Hybrid edition) | Leuven, Belgija, 27.10.2021-28.10.2021

  www.vibconferences.be

• Dominko, Kristina ; Vidatić, Lea ; Tahirović, Sabina ; Hećimović, Silva | Retromer dysfunction in a rare neurodegenerative disorder Niemann-Pick type C // The 14th International Conference on Alzheimer's & Parkinson's Diseases | Lisabon, Portugal, 26.03.2019-31.03.2019

• Vidatić, Lea ; Tipurić, Sandra ; Zovko, Ana ; Rastija, Ana ; Hecimović, Silva | Tauopathy in Niemann-Pick type C disease carriers: analysis in a mouse model // 45th FEBS Congress: Molecules of Life: Towards New Horizons (FEBS 2021) | Ljubljana, Slovenija, 03.07.2021-08.07.2021

  2021.febscongress.org

• Vidatić, Lea ; Lichtenthaler, Stefan F. ; Tahirović, Sabina ; Hećimović, Silva | BACE1 inhibition ameliorates neuroinflammation in organotypic brain slices of Niemann-Pick type C disease murine model // ESGLD Virtual Summer Meeting | Ujedinjeno Kraljevstvo, 28.06.2021-30.06.2021

• Vidatić, Lea ; Dominko, Kristina ; Rastija, Ana ; Pigoni, Martina ; Colombo, Alessio, Gunnersen, Jenny M. ; Tahirović, Sabina ; Lichtenthaler, Stefan F. ; Hećimović, Silva | Subcellular localization of BACE1 substrates SEZ6 and SEZ6L is altered in primary neurons of Niemann-Pick type C murine model // The 14th International Conference on Alzheimer's & Parkinson's Diseases | Lisabon, Portugal, 26.03.2019-31.03.2019

• Katušić Hećimović, Silva | Molecular mechanism(s) of increased Aß upon cholesterol accumulation in Niemann-Pick type C disease // German Center for Neurodegenerative Diseases Munich - Seminar | München, Njemačka, 10.06.2011-10.06.2011

• Katušić Hećimović, Silva | Lipid Profiling and its Role in the Pathogenesis of Alzheimer’s Disease // Workshop Bioaffinity – Mass Spectrometry: New Developments and Applications in Life Sciences | Konstanz, Njemačka, 04.12.2011-05.12.2011

• Katušić Hećimović, Silva | The link between lipids and Alzheimer’s disease: a view from Niemann Pick type C disease // JSW Life Science Seminar | Grambach, Austrija, 18.11.2010-18.11.2010

• Katušić Hećimović, Silva | The link between NP-C and Alzheimer’s disease // Pharmaceuticals Ltd. Joint International Advisory Board Meeting on Niemann-Pick Type C | Zürich, Švicarska, 10.05.2012-10.05.2012

• Katušić Hećimović, Silva | The molecular mechanism(s) of increased amyloid-beta in Niemann Pick type C disease // Neurochem Laboratory Seminar, Sahlgren University Hospital | Göteborg, Švedska, 18.03.2011-18.03.2011

• Katušić Hećimović, Silva ; Malnar, Martina ; Košiček, Marko | Niemann-Pick type C disease – a model to study the role of cholesterol in the pathogenesis of Alzheimer's disease // The 19th European Study Group on Lysosomal Diseases (ESGLD | Graz, Austrija, 26.09.2013-29.09.2013

• Katušić Hećimović, Silva | The Role of APP in Cholesterol Metabolism: A link between Niemann-Pick type C Disease and Alzheimer's Disease // Workshop MSLife: High Performance Mass Spectrometry: Integration new tools and methods with Applications in Life Sciences | Konstanz, Njemačka, 26.08.2013-28.08.2013

• Katušić Hećimović, Silva | Endocytic traffick jam in Niemann Pick type C disease – a cause of increased Alzheimer’s amyloid-β peptide formation // Gordon Research Conference - Lysosomal Diseases | Galveston (TX), Sjedinjene Američke Države, 23.01.2011-28.01.2011

• Katušić Hećimović, Silva | The molecular links between lysosomal storage diseases and Alzheimer’s disease // Workshop New Developments of Lysosomal storage disease diagnostics & therapeutics: LSD Protein – aggregation & interactions | Konstanz, Njemačka, 14.03.2012-16.03.2012

• Malnar, Martina ; Košiček, Marko ; Mitterreiter, Stefan ; Lichtenthaler, Stefan F. ; Hećimović, Silva. | Cholesterol accumulation in Niemann-Pick type C cells favors APP processing by β-secretase and causes altered endocytic trafficking of BACE1 // Kloster Seeon meeting on BACE proteases in health and disease | Seeon-Seebruck, Njemačka, 06.10.2013-08.10.2013

  www.dzne.de

• Malnar, Martina ; Košiček, Marko ; Tahirović, Sabina ; Katušić Hećimović Silva | Cholesterol levels modulate trafficking of APP and BACE1 in Niemann-Pick type C cells // Gordon Research Conference: Lysosomal Diseases | Barga, Italija, 14.04.2013-18.04.2013

• Malnar, Martina ; Košiček, Marko ; Tahirović, Sabina ; Katušić Hećimović, Silva | Cholesterol levels modulate trafficking of APP and BACE1 in Niemann-Pick type C cells // Gordon Research Seminar: Lysosomal diseases | Barga, Italija, 13.04.2013-14.04.2013

• Hecimovic, Silva | Endocytic traffic jam in Niemann Pick type C disease - a cause of increased Alzheimer's amyloid-β formation // Gordon Research Conference - Lysosomal Diseases | Galveston (TX), Sjedinjene Američke Države, 23.01.2011-28.01.2011

• Košiček, Marko ; Goate, Alison ; Hećimović, Silva | The role of lipid rafts on app processing and amyloid-beta formation // Summer Course on Mass Spectrometry in Biotechnology and Medicine (3 ; 2009) | Dubrovnik, Hrvatska, 05.07.2009-11.07.2009

• Hećimović, Silva | Molecular biomarkers of dementias - the rode to early diagnosis // V. znanstveni skup o poremećajima mozga - Kognitivni poremećaji u neurologiji | Zagreb, Hrvatska, 16.03.2007-16.03.2007

Doktorski rad

• Vidatić, Lea | Karakterizacija neuropatoloških značajki novoga mišjeg modela bolesti Niemann-Pick tipa C s deletiranim genom BACE1 / Katušić, Silva (mentor). | Rijeka, Sveučilište u Rijeci, Fakultet biotehnologije i razvoja lijekova, 2024

  urn.nsk.hr

• Rastija, Ana | Ispitivanje uloge proteaze BACE1 u patogenezi rijetke nasljedne neurodegenerativne Niemann- Pickove bolesti tipa C / Katušić Hećimović, Silva ; (mentor). | Rijeka, Sveučilište u Rijeci, Fakultet biotehnologije i razvoja lijekova, 2023

  urn.nsk.hrfulir.irb.hr

• Dominko, Kristina | Utjecaj unutarstaničnoga kolesterola i C-terminalnoga odsječka proteina prekursora amiloida β na funkciju retromera u modelima Alzheimerove bolesti / Jovanov Milošević, Nataša ; Katušić Hećimović, Silva (mentor). | Zagreb, Medicinski fakultet u Zagrebu, 2020

  urn.nsk.hr

• Čermak, Stjepko | Uloga poremećaja funkcije lizosoma u metabolizmu prekursora amiloid-beta peptida i homeostazi kolesterola u staničnim i mišjim modelima Niemann-Pickove bolesti tipa C / Katušić Hećimović, Silva (mentor). | Zagreb, Veterinarski fakultet, Zagreb, 2016

• Košiček, Marko | The role of lipids in the pathogenesis of Alzheimer's disease - from molecular mechanisms to disease biomarkers / Katušić Hećimović, Silva (mentor). | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2013

• Malnar, Martina | Mehanizam djelovanja kolesterola na cijepanje i transport proteina APP / Katušić Hećimović, Silva (mentor). | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2012

• Petek Tarnik, Iva | Utjecaj polimorfizma ApoE i vaskularnih čimbenika rizika na nastanak Alzheimerove bolesti / Katušić Hećimović, Silva (mentor); Katušić Hećimović, Silva (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2010

• Hećimović, Silva | Razvoj metode za brzo otkrivanje dinamičnih mutacija u sindromu fragilnog X / Pavelić, Krešimir (mentor). | Zagreb, Prehrambeno-biotehnološki fakultet, 2000

Diplomski rad (sveučilišni)

• Martinović, Lovro | Otkrivanje ranih neuropatoloških promjena u miševa prenositelja bolesti Niemann-Pick tipa C / Katušić Hećimović , Silva ; Erhardt , Julija (mentor); Vidatić, Lea (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2023

  urn.nsk.hr

• Babić, Andrea | Karakterizacija disfunkcije retromernog kompleksa u staničnom modelu bolesti Niemann-Pick tip C / Katušić Hećimović, Silva ; Hranilović, Dubravka (mentor); Vidatić, Lea (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2020

• Zovko, Ana | Patološke značajke u mozgu miševa nositelja bolesti Niemann-Pick tipa C / Katušić Hećimović, Silva ; Blažević, Sofia Ana (mentor); Vidatić, Lea (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2021

  urn.nsk.hr

• Meglaj, Sarah | Analiza supstrata enzima BACE1 u endosomalnim frakcijama moždanih regija miševa NPC1-/- i divljeg tipa miša (NCP1+/+) / Katušić Hećimović, Silva ; Erhardt, Julija (mentor); Rastija, Ana (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2021

  urn.nsk.hr

• Jović, Tanja | Izolacija i karakterizacija lizosoma u stanicama CHOwt i CHO NPC1-null / Lauc, Gordan (mentor); Katušić Hećimović, Silva (neposredni voditelj) . | Zagreb, Farmaceutsko-biokemijski fakultet, 2014

• Dominko, Kristina | Međudjelovanje kolesterola i antioksidativnog sustava / Đikić, Domagoj (mentor); Domagoj Đikić, Katušić Hećimović, Silva (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2014

  urn.nsk.hr

• Silvestrić, Ana | The analysis of presenilin cellular localization in Niemann-Pick type C cells / Zabucchi, Giuliano (mentor); Katušić Hećimović, Silva (neposredni voditelj) . | Trieste, 2014

• Ćosić, Ivana | Mehanizmi cijepanja kompleksa gama-sekretaze / Silva Katušić Hećimović (mentor); Martina Malnar (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2010

• Njavro, Jasenka | Utjecaj nakupljanja kolesterola u stanicama CHO NPC1-/- na smještaj proteina BACE1 u organelima endocitoznog puta / Silva Katušić Hećimović (mentor); Marko Košiček ; Martina Malnar (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2011

• Kular, Dolores | Utjecaj nakupljanja kolesterola na metabolizam proteina APLP1 i APLP2 u stanicama CHO NPC1-null / Silva Katušić Hećimović (mentor); Marko Košiček (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2011

• Krolo, Ana | Smještaj proteina APP u organelima endocitoznog puta u stanicama CHO NPC1-null / Katušić Hećimović, Silva (mentor); Hranilović, Dubravka (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2009

• Lisica, Ana | Prijenos proteina APP u organelima endocitoznog puta u stanicama CHO NPC1-null / Katušić Hećimović, Silva (mentor); Hranilović, Dubravka (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2009

  zir.nsk.hr

• Posavec, Melanija | Metabolizam proteina APP u lizsomskim bolestima nakupljanja / Katušić Hećimović, Silva (mentor); Katušić Hećimović, Silva (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2009

  zir.nsk.hr

• Omerbašić, Damir | Utjecaj kolesterola na smještaj i metabolizam prekursora proteina amiloid-beta (APP) u bolestima nakupljanja lipida / Katušić Hećimović, Silva (mentor); Katušić Hećimović, Silva (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2008

• Đokić, Helena | Sindrom fragilnog X kromosoma: analiza haplotipa i nestabilnosti slijeda tripleta CGG u genu FMR1 / Weygand-Đurašević, Ivana (mentor); Hećimović, Silva (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2006

• Košiček, Marko | Utjecaj lipidnih splavi i kolesterola na metabolizam proteina APP / Weygand-Đurašević, Ivana (mentor); Hećimović, Silva (neposredni voditelj) . | Zagreb, Prirodoslovno-matematički fakultet, Zagreb, 2007

Ostalo

• Alfirević, Žarko ; Barić, Ivo ; Barišić, Ingeborg ; Barišić, Nina ; Begović, Davor ; Boranić, Milivoj ; Crkvenac-Gornik, Kristina ; Čačev, Tamara ; Čuković-Čavka, Silvija ; Čečuk-Jeličić, Esma et al. | Racionalna dijagnostika nasljednih i prirođenih bolesti / Barić, Ivo ; Stavljenić-Rukavina Ana (ur.). Zagreb: Medicinska naklada, 2005. 192

• Croatian Society of Biochemistry and Molecular Biology
• Croatian Society for Alzheimer's Disease
• Croatian Society of Human Genetics
• Croatian Society of Clinical Genetics