title: Modeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells.
abstract: Data generated in Niemann Pick type C1 (NPC1) human embryonic and human induced pluripotent stem cell derived neurons complement on-going studies in animal models and provide the first example, in disease-relevant human cells, of processes that underlie preferential neuronal defects in a NPC1. Our work and that of other investigators in human neurons derived from stem cells highlight the importance of performing rigorous mechanistic studies in relevant cell types to guide drug discovery and therapeutic development, alongside of existing animal models. Through the use of human stem cell-derived models of disease, we can identify and discover or repurpose drugs that revert early events that lead to neuronal failure in NPC1. Together with the study of disease pathogenesis and efficacy of therapies in animal models, these strategies will fulfill the promise of stem cell technology in the development of new treatments for human diseases. This article is part of a Special Issue entitled SI: Exploiting human neurons.
authors.affiliation: Sanford Consortium for Regenerative Medicine, University of California, San Diego, La Jolla, CA 92037, United States; Department of Pediatric Gastroenterology, Hepatology, and Nutrition, University of California, San Diego, La Jolla, CA 92037, United States. Electronic address: pordonez@ucsd.edu.
authors.forename: M Paulina
authors.initials: MP
authors.lastname: Ordoñez
authors.affiliation: Sanford Consortium for Regenerative Medicine, University of California, San Diego, La Jolla, CA 92037, United States.
authors.forename: John W
authors.initials: JW
authors.lastname: Steele
mesh_terms: D000818:Animals; D055808:Drug Discovery; D053595:Embryonic Stem Cells / Q000187:drug effects / Q000502:physiology*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000187:drug effects / Q000502:physiology*; D052556:Niemann-Pick Disease, Type C / Q000188:drug therapy / Q000503:physiopathology*
keywords: Autophagy; Drug screening; Human embryonic stem cells; Human induced pluripotent stem cells; Models of disease; Neurodegeneration; Niemann Pick type C1