Journal Article

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology

Adèle Faucherre, Pierrette Desbois, Fumiko Nagano, Véronique Satre, Joël Lunardi, Gérard Gacon and Olivier Dorseuil

in Human Molecular Genetics

Volume 14, issue 11, pages 1441-1448
Published in print June 2005 | ISSN: 0964-6906
Published online April 2005 | e-ISSN: 1460-2083 | DOI: https://dx.doi.org/10.1093/hmg/ddi153
Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology

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Oculocerebrorenal Lowe syndrome is a rare X-linked disorder characterized by bilateral cataract, mental retardation and renal Fanconi syndrome. The Lowe syndrome protein Ocrl1 is a PIP2 5-phosphatase, primarily localized to the trans-Golgi network (TGN), which ‘loss of function’ mutations result in PIP2 accumulation in patient's cells. Although PIP2 is involved in many cell functions including signalling, vesicle trafficking and actin polymerization, it has been difficult so far to decipher molecular/cellular mechanisms responsible for Lowe syndrome phenotype. We have recently shown...

Journal Article.  4935 words.  Illustrated.

Subjects: Genetics and Genomics

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