Login / Signup

Lysosome positioning and mTOR activity in Lowe syndrome.

Cansu KarabiyikSung Min SonDavid C Rubinsztein
Published in: EMBO reports (2021)
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.
Keyphrases
  • cell proliferation
  • case report
  • single cell
  • cell therapy
  • protein kinase
  • emergency department
  • adverse drug
  • pi k akt
  • living cells
  • single molecule