Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients

Human Molecular Genetics

Volumn 26, Issue 24, 2017, Pages 4861-4872

  Valdez, Clarissa ^a   Wong, Yvette C ^a   Schwake, Michael ^a   Bu, Guojun ^b   Wszolek, Zbigniew K ^c   Krainc, Dimitri ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATHEPSIN D; LIPOFUSCIN; PROGRANULIN; TAR DNA BINDING PROTEIN; CTSD PROTEIN, HUMAN; DNA BINDING PROTEIN; GRN PROTEIN, HUMAN; SIGNAL PEPTIDE;

ARTICLE; BRAIN NERVE CELL; CONTROLLED STUDY; ENZYME ACTIVITY; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; HUMAN; HUMAN CELL; INDUCED PLURIPOTENT STEM CELL; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PROTEIN INTERACTION; BRAIN; DEFICIENCY; FIBROBLAST; GENETICS; HAPLOINSUFFICIENCY; HEK293 CELL LINE; HETEROZYGOTE; LYSOSOME; METABOLISM; MUTATION; NERVE CELL; PATHOLOGY; TRANSFORMED CELL LINE;

BRAIN; CATHEPSIN D; CELL LINE, TRANSFORMED; DNA-BINDING PROTEINS; FIBROBLASTS; FRONTOTEMPORAL DEMENTIA; HAPLOINSUFFICIENCY; HEK293 CELLS; HETEROZYGOTE; HUMANS; INDUCED PLURIPOTENT STEM CELLS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; LYSOSOMES; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS;

EID: 85042866298     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddx364     Document Type: Article

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