Lysosome positioning and mTOR activity in Lowe syndrome

EMBO Rep. 2021 Jul 5;22(7):e53232. doi: 10.15252/embr.202153232. Epub 2021 May 27.

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.

Publication types

  • Comment

MeSH terms

  • Humans
  • Lysosomes
  • Mutation
  • Oculocerebrorenal Syndrome*
  • Phosphoric Monoester Hydrolases / genetics
  • TOR Serine-Threonine Kinases / genetics

Substances

  • MTOR protein, human
  • TOR Serine-Threonine Kinases
  • Phosphoric Monoester Hydrolases