The Lowe syndrome protein OCRL1 is involved in primary cilia assembly (Q24301336)

GOA release 2020-03-11

cilium assembly

1 reference

GOA release 2020-03-11

author name string

Brian G Coon

1

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Victor Hernandez

2

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Kayalvizhi Madhivanan

3

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Debarati Mukherjee

4

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Claudia B Hanna

5

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Irene Barinaga-Rementeria Ramirez

6

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Martin Lowe

7

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Philip L Beales

8

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R Claudio Aguilar

Inherited cerebrorenal syndromes

9

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language of work or name

English

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publication date

15 April 2012

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published in

Human Molecular Genetics

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volume

21

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issue

8

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page(s)

1835-47

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cites work

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Phosphoinositides as regulators of membrane trafficking in health and disease.

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The primary cilium: a signalling centre during vertebrate development

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Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase

21 January 2018

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Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

21 January 2018

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Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases

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Coordination of Rab8 and Rab11 in primary ciliogenesis

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INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

21 January 2018

1 reference

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

21 January 2018

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A novel domain suggests a ciliary function for ASPM, a brain size determining gene

21 January 2018

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Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

21 January 2018

1 reference

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Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice

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Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

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Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish.

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Redundancy and evolution of GATA factor requirements in development of the myocardium

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OCRL1 function in renal epithelial membrane traffic

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The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease

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The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway

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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

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Cell biology of normal and abnormal ciliogenesis in the ciliated epithelium

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Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4

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Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA.

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The epsin family of endocytic adaptors promotes fibrosarcoma migration and invasion

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A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1

21 January 2018

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Differential clathrin binding and subcellular localization of OCRL1 splice isoforms

21 January 2018

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

21 January 2018

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OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

21 January 2018

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Recognition of the F&H; motif by the Lowe syndrome protein OCRL

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An APPL1/Akt signaling complex regulates dendritic spine and synapse formation in hippocampal neurons

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APPL1: role in adiponectin signaling and beyond

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Differential role of Rab proteins in ciliary trafficking: Rab23 regulates smoothened levels

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Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity

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MICAL-L1 links EHD1 to tubular recycling endosomes and regulates receptor recycling

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Basal body stability and ciliogenesis requires the conserved component Poc1

21 January 2018

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