Varaico: Literature-Extracted Genetic Variants

Gene:VAC14
Variant:p.L156R
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VAC14

NM_018052.5:p.L156R

Associated Papers

Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.

Liao S et al.

Molecular Genetics & Genomic Medicine, 2020

Nephron-specific knockin of the PIKfyve-binding-deficient Vac14L156R mutant results in albuminuria and mesangial expansion.

Michgehl U et al.

American Journal of Physiology. Renal Physiology, 2018

PI5P and PI(3,5)P2: Minor, but Essential Phosphoinositides.

Hasegawa J et al.

Cell Structure and Function, 2017

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

Lenk GM et al.

American Journal of Human Genetics, 2016

PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms.

Mironova YA et al.

Elife, 2016

The Vac14-interaction network is linked to regulators of the endolysosomal and autophagic pathway.

Schulze U et al.

Molecular & Cellular Proteomics : Mcp, 2014

Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.

Lenk GM et al.

Methods in Enzymology, 2014

Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P.

Zhang Y et al.

The Embo Journal, 2012

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.

Lenk GM et al.

Plos Genetics, 2011

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.

Ferguson CJ et al.

Human Molecular Genetics, 2009

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.

Jin N et al.

The Embo Journal, 2008

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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."