| Literature DB >> 34047002 |
Cansu Karabiyik1,2, Sung Min Son1,2, David C Rubinsztein1,2.
Abstract
Lowe syndrome is a rare, developmental disorder caused by mutations in the phosphatase, OCRL. A study in this issue of EMBO Reports shows that OCRL is required for microtubule nucleation and that mutations in this protein lead to an inability to activate mTORC1 signaling and consequent cell proliferation in the presence of nutrients. These defects are the result of impaired microtubule-dependent lysosomal trafficking to the cell periphery and are independent of OCRL phosphatase activity.Entities:
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Year: 2021 PMID: 34047002 PMCID: PMC8406394 DOI: 10.15252/embr.202153232
Source DB: PubMed Journal: EMBO Rep ISSN: 1469-221X Impact factor: 9.071