Lysosome positioning and mTOR activity in Lowe syndrome.
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Authors
Son, Sung Min
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.
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Keywords
Humans, Lysosomes, Mutation, Oculocerebrorenal Syndrome, Phosphoric Monoester Hydrolases, TOR Serine-Threonine Kinases
Journal Title
EMBO Rep
Conference Name
Journal ISSN
1469-221X
1469-3178
1469-3178
Volume Title
22
Publisher
EMBO
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