Lysosome positioning and mTOR activity in Lowe syndrome.

EMBO Rep

Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.

Published: July 2021


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Article 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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8406394PMC
http://dx.doi.org/10.15252/embr.202153232DOI Listing

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