Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

Human Molecular Genetics

Volumn 23, Issue 8, 2014, Pages 2005-2022

  Lojewski, Xenia ^a,b,g   Staropoli, John F ^a,h   Biswas legrand, Sunita ^a   Simas, Alexandra M ^a   Haliw, Larissa ^a   Selig, Martin K ^a   Coppel, Scott H ^a   Goss, Kendrick A ^a   Petcherski, Anton ^a   Chandrachud, Uma ^a   Sheridan, Steven D ^a   Lucente, Diane ^a   Sims, Katherine B ^a   Gusella, James F ^a   Sondhi, Dolan ^d   Crystal, Ronald G ^d   Reinhardt, Peter ^e   Sterneckert, Jared ^e   Schöler, Hans ^e   Haggarty, Stephen J ^a   Storch, Alexander ^b,c,f   Hermann, Andreas ^b,f   Cotman, Susan L ^a   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c CENTER FOR REGENERATIVE THERAPIES DRESDEN   (Germany)

^d WEILL CORNELL MEDICAL COLLEGE   (United States)

^e MAX PLANCK INSTITUTE FOR MOLECULAR BIOMEDICINE   (Germany)

^f GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^g Biocrea GmbH   (Germany)

^h BIOGEN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATALUREN; BATTENIN; BIOLOGICAL MARKER; FENOFIBRATE; GEMFIBROZIL; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL DIFFERENTIATION; CENTRAL NERVOUS SYSTEM; CLASSIC LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS; CONTROLLED STUDY; DISEASE COURSE; DRUG SCREENING; ENDOCYTOSIS; ENDOPLASMIC RETICULUM; ENDOSOME; ENZYME ACTIVITY; FIBROBLAST; GENE MUTATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; LYSOSOME; LYSOSOME STORAGE DISEASE; MITOCHONDRION; MOUSE; NEURAL STEM CELL; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPATHOLOGY; NONHUMAN; NUCLEAR REPROGRAMMING; PLURIPOTENT STEM CELL; PRIORITY JOURNAL;

AMINOPEPTIDASES; BLOTTING, WESTERN; CASE-CONTROL STUDIES; CELL PROLIFERATION; CELLS, CULTURED; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; ELECTROPHYSIOLOGY; ENDOPLASMIC RETICULUM; FENOFIBRATE; FIBROBLASTS; GEMFIBROZIL; GOLGI APPARATUS; HUMANS; IMMUNOENZYME TECHNIQUES; INDUCED PLURIPOTENT STEM CELLS; LYSOSOMES; MEMBRANE GLYCOPROTEINS; MODELS, NEUROLOGICAL; MOLECULAR CHAPERONES; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS; SERINE PROTEASES;

EID: 84897873387     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt596     Document Type: Article

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