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Lysosome positioning and mTOR activity in Lowe syndrome
Author(s) -
Karabiyik Cansu,
Son Sung Min,
Rubinsztein David C
Publication year - 2021
Publication title -
embo reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.584
H-Index - 184
eISSN - 1469-3178
pISSN - 1469-221X
DOI - 10.15252/embr.202153232
Subject(s) - library science , medicine , gerontology , history , computer science
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.