基本信息
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个人简介
Dr. Porter’s research group investigates molecular, biochemical, cellular, and developmental processes that underlie genetic syndromes. Specifically, his research has focused on rare genetic disorders, Smith-Lemli-Opitz syndrome, CLN3 disease and Niemann-Pick Disease, type C1. Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis that results in birth defects and cognitive impairment. Niemann-Pick Disease, type C1 (NPC1) is a neurodegenerative, lysosomal disease due to impaired intracellular cholesterol transport. CLN3 disease, like NPC1, is a neurodegenerative, lysosomal disease; however, the function of the CLN3 protein is not known. The goal of his sections research efforts is to combine both basic science and clinical expertise to develop and test novel therapeutic interventions for SLOS, CLN3 disease and NPC1. Laboratory work is focused on development and characterization of neuronal, zebrafish and mouse models to gain insight into pathological processes underlying these genetic disorders utilizing molecular, biochemical and proteomic techniques. This basic science work complements clinical work by this section which includes longitudinal natural history studies of SLOS, CLN3 disease and NPC1. The combination of both basic and clinical science efforts in this research group truly allows for both an integrated bench-to-bedside and bedside-to-bench approach toward understanding the pathology of these disorders and developing therapeutic interventions.
研究兴趣
论文共 278 篇作者统计合作学者相似作者
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Beth I. Solomon, Andrea M. Munoz,Ninet Sinaii, Hibaaq Mohamed,Nicole M. Farhat,Derek Alexander,An Dang Do,Forbes D. Porter
Orphanet Journal of Rare Diseasesno. 1 (2024)
Sonali Mishra,Pamela Kell,David Scherrer, Dennis J. Dietzen,Charles H. Vite,Elizabeth Berry-Kravis,Cristin Davidson,Stephanie M. Cologna,Forbes D. Porter, Daniel S. Ory,Xuntian Jiang
JOURNAL OF LIPID RESEARCHno. 8 (2024)
American journal of medical genetics Part App.e63875-e63875, (2024)
Avani V Mylvara,Alana L Gibson,Tansy Gu,Cristin D Davidson,Art A Incao, Katerina Melnyk,Dominick Pierre-Jacques,Stephanie M Cologna,Charles P Venditti,Forbes D Porter,William J Pavan
bioRxiv the preprint server for biology (2024)
Rachel A. Luke, Niamh X. Cawley, Samar Rahhal, Aishwarya Selvaraman,Audrey Thurm, Christopher A. Wassif,Forbes D. Porter
Molecular genetics and metabolismno. 1-2 (2024): 108570-108570
International Journal of Molecular Sciencesno. 8 (2024)
Kristin Gabor,Emily Mesev,Jennifer Madenspacher,Julie Meacham,Prashant Rai, Sookjin Moon,Christopher A. Wassif, Saame Raza Shaikh, C. J. Tucker,Peer Karmaus,Simona Bianconi,Forbes D. Porter,
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