期刊
TRENDS IN BIOCHEMICAL SCIENCES
卷 37, 期 4, 页码 134-143出版社
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tibs.2012.01.002
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资金
- NIDA NIH HHS [P30 DA018343] Funding Source: Medline
- NIDDK NIH HHS [R01 DK082700-03, R01 DK082700] Funding Source: Medline
- NINDS NIH HHS [R37 NS036251, R37 NS036251-15] Funding Source: Medline
The precise regulation of phosphoinositide lipids in cellular membranes is crucial for cellular survival and function. Inositol 5-phosphatases have been implicated in a variety of disorders, including various cancers, obesity, type 2 diabetes, neurodegenerative diseases and rare genetic conditions. Despite the obvious impact on human health, relatively little structural and biochemical information is available for this family. Here, we review recent structural and mechanistic work on the 5-phosphatases with a focus on OCRL, whose loss of function results in oculocerebrorenal syndrome of Lowe and Dent 2 disease. Studies of OCRL emphasize how the actions of 5-phosphatases rely on both intrinsic and extrinsic membrane recognition properties for full catalytic function. Additionally, structural analysis of missense mutations in the catalytic domain of OCRL provides insight into the phenotypic heterogeneity observed in Lowe syndrome and Dent disease.
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