期刊
IUBMB LIFE
卷 66, 期 7, 页码 472-477出版社
WILEY
DOI: 10.1002/iub.1288
关键词
human molecular disease; Ca2+ signaling; chaperones; genetics; neurodegenerative disorders; protein folding; protein function
资金
- National Institutes of Health [R21 NS084005]
- Welch Foundation [C-1824]
- National Science Foundation [CBET-1254318, CBET-1336053]
- Directorate For Engineering
- Div Of Chem, Bioeng, Env, & Transp Sys [1336053] Funding Source: National Science Foundation
- Directorate For Engineering
- Div Of Chem, Bioeng, Env, & Transp Sys [1254318] Funding Source: National Science Foundation
Lysosomal storage disorders (LSDs) are inherited metabolic diseases caused by deficiencies in lysosomal proteins, which result in accumulation of undegraded metabolites and disruption of lysosomal proteostasis. Despite significant progress in the molecular genetics and biochemistry underlying the cellular pathogenesis of LSDs, the mechanisms that link accumulation of storage material to development and progression of these diseases are still unclear. At the crossroad of degradative pathways, lysosomes play a fundamental role in the maintenance of cellular homeostasis. Through a series of examples, this review illustrates how defects in lysosomal biogenesis and function impact a number of cellular pathways that are involved in the pathogenic cascade. (C) 2014 IUBMB Life, 66(7): 472-477, 2014
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