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Article

Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.

Human molecular genetics - 27 Jun 2020

Madhivanan Kayalvizhi, Ramadesikan Swetha, Hsieh Wen-Chieh, Aguilar Mariana C, Hanna Claudia B, Bacallao Robert L, Aguilar R Claudio

Abstract excerpt

Lowe syndrome (LS) is an X-linked developmental disease characterized by cognitive deficiencies, bilateral congenital cataracts and renal dysfunction. Unfortunately, this disease leads to the early death of affected children often due to kidney failure. Although this condition was first described in the early 1950s and the affected gene (OCRL1) was identified in the early 1990s, its pathophysiological mechanism...

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Identifiers

PMID: 32391547
DOI: 10.1093/hmg/ddaa086
PMCID: PMC7322567

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Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.PMID 32391547Read ↗

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The cellular and physiological functions of the Lowe syndrome protein OCRL1.Semantic proximity Read ↗

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphataseSemantic proximity Read ↗

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.Semantic proximity Read ↗

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1Semantic proximity Read ↗

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of LoweSemantic proximity Read ↗

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.Semantic proximity Read ↗

A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.Semantic proximity Read ↗

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.Semantic proximity Read ↗

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