Varaico: Literature-Extracted Genetic Variants

Gene:RAB11A
Variant:p.S25N
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RAB11A

NM_004663.5:p.S25N

Associated Papers

CRB3 navigates Rab11 trafficking vesicles to promote γTuRC assembly during ciliogenesis.

Wang B et al.

Elife, 2023

A Novel Constitutively Active c.98G > C, p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization.

Tsuneura Y et al.

Human Mutation, 2023

RAB11A-mediated YAP localization to adherens and tight junctions is essential for colonic epithelial integrity.

Goswami S et al.

The Journal of Biological Chemistry, 2021

Coordinated assembly and release of adhesions builds apical junctional belts during de novo polarisation of an epithelial tube.

Symonds AC et al.

Development (cambridge, England), 2020

AP-2 reduces amyloidogenesis by promoting BACE1 trafficking and degradation in neurons.

Bera S et al.

Embo Reports, 2020

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.

Kampf LL et al.

Journal of the American Society of Nephrology : Jasn, 2019

Recycling Endosomes in Mature Epithelia Restrain Tumorigenic Signaling.

D'Agostino L et al.

Cancer Research, 2019

FLCN is a novel Rab11A-interacting protein that is involved in the Rab11A-mediated recycling transport.

Zhao L et al.

Journal of Cell Science, 2018

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis.

Banushi B et al.

Nature Communications, 2016

shRNA-Based Screen Identifies Endocytic Recycling Pathway Components That Act as Genetic Modifiers of Alpha-Synuclein Aggregation, Secretion and Toxicity.

Gonçalves SA et al.

Plos Genetics, 2016

Nuclear localization of platelet-activating factor receptor controls retinal neovascularization.

Bhosle VK et al.

Cell Discovery, 2016

A paired RNAi and RabGAP overexpression screen identifies Rab11 as a regulator of β-amyloid production.

Udayar V et al.

Cell Reports, 2013

Coxsackievirus B3 modulates cardiac ion channels.

Steinke K et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013

Identification of a novel signaling pathway and its relevance for GluA1 recycling.

Seebohm G et al.

Plos One, 2012

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

Cullinane AR et al.

Nature Genetics, 2010

Rab 11 regulates constitutive dopamine transporter trafficking and function in N2A neuroblastoma cells.

Furman CA et al.

Neuroscience Letters, 2009

Regulation of endocytic recycling of KCNQ1/KCNE1 potassium channels.

Seebohm G et al.

Circulation Research, 2007

Functional significance of the kainate receptor GluR6(M836I) mutation that is linked to autism.

Strutz-Seebohm N et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."