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Lysosome positioning and mTOR activity in Lowe syndrome.

Accepted version
Peer-reviewed

Type

Article

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Authors

Son, Sung Min 
Rubinsztein, David C  ORCID logo  https://orcid.org/0000-0001-5002-5263

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.

Description

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

Volume Title

22

Publisher

Springer Science and Business Media LLC

Rights

All rights reserved