Literature DB >> 34047002

Lysosome positioning and mTOR activity in Lowe syndrome.

Cansu Karabiyik1,2, Sung Min Son1,2, David C Rubinsztein1,2.   

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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Year:  2021        PMID: 34047002      PMCID: PMC8406394          DOI: 10.15252/embr.202153232

Source DB:  PubMed          Journal:  EMBO Rep        ISSN: 1469-221X            Impact factor:   9.071


  11 in total

1.  The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.

Authors:  O Attree; I M Olivos; I Okabe; L C Bailey; D L Nelson; R A Lewis; R R McInnes; R L Nussbaum
Journal:  Nature       Date:  1992-07-16       Impact factor: 49.962

2.  From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Authors:  Haifa Hichri; John Rendu; Nicole Monnier; Charles Coutton; Olivier Dorseuil; Rosa Vargas Poussou; Geneviève Baujat; Anne Blanchard; François Nobili; Bruno Ranchin; Michel Remesy; Rémi Salomon; Véronique Satre; Joel Lunardi
Journal:  Hum Mutat       Date:  2011-03-10       Impact factor: 4.878

Review 3.  mTOR: A pathogenic signaling pathway in developmental brain malformations.

Authors:  Peter B Crino
Journal:  Trends Mol Med       Date:  2011-09-02       Impact factor: 11.951

4.  A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.

Authors:  Kai S Erdmann; Yuxin Mao; Heather J McCrea; Roberto Zoncu; Sangyoon Lee; Summer Paradise; Jan Modregger; Daniel Biemesderfer; Derek Toomre; Pietro De Camilli
Journal:  Dev Cell       Date:  2007-09       Impact factor: 12.270

5.  Lysosomal positioning coordinates cellular nutrient responses.

Authors:  Viktor I Korolchuk; Shinji Saiki; Maike Lichtenberg; Farah H Siddiqi; Esteban A Roberts; Sara Imarisio; Luca Jahreiss; Sovan Sarkar; Marie Futter; Fiona M Menzies; Cahir J O'Kane; Vojo Deretic; David C Rubinsztein
Journal:  Nat Cell Biol       Date:  2011-03-13       Impact factor: 28.824

6.  Lysosome positioning and mTOR activity in Lowe syndrome.

Authors:  Cansu Karabiyik; Sung Min Son; David C Rubinsztein
Journal:  EMBO Rep       Date:  2021-05-27       Impact factor: 9.071

7.  OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring.

Authors:  Biao Wang; Wei He; Philipp P Prosseda; Liang Li; Tia J Kowal; Jorge A Alvarado; Qing Wang; Yang Hu; Yang Sun
Journal:  EMBO Rep       Date:  2021-05-13       Impact factor: 9.071

Review 8.  The oculocerebrorenal syndrome of Lowe: an update.

Authors:  Arend Bökenkamp; Michael Ludwig
Journal:  Pediatr Nephrol       Date:  2016-03-24       Impact factor: 3.714

9.  Twenty-five years of mTOR: Uncovering the link from nutrients to growth.

Authors:  David M Sabatini
Journal:  Proc Natl Acad Sci U S A       Date:  2017-10-25       Impact factor: 11.205

Review 10.  Mechanisms of lysosomal positioning and movement.

Authors:  Birol Cabukusta; Jacques Neefjes
Journal:  Traffic       Date:  2018-07-17       Impact factor: 6.215

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  1 in total

1.  Lysosome positioning and mTOR activity in Lowe syndrome.

Authors:  Cansu Karabiyik; Sung Min Son; David C Rubinsztein
Journal:  EMBO Rep       Date:  2021-05-27       Impact factor: 9.071

  1 in total

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