Varaico: Literature-Extracted Genetic Variants

Gene:VPS11
Variant:p.Y282*
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VPS11

NM_021729.6:p.Y282*

Associated Papers

Evaluating the effects of pro-myelinating drugs on motor function and myelination in a zebrafish model of genetic leukoencephalopathy.

Banerjee S et al.

Neuroscience Letters, 2025

Hypomyelinated vps16 Mutant Zebrafish Exhibit Systemic and Neurodevelopmental Pathologies.

Banerjee S et al.

International Journal of Molecular Sciences, 2024

Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk.

Goldstein O et al.

Molecular Genetics and Metabolism, 2023

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.

Yechieli M et al.

Journal of Medical Genetics, 2022

Vision and sensorimotor defects associated with loss of Vps11 function in a zebrafish model of genetic leukoencephalopathy.

Banerjee S et al.

Scientific Reports, 2022

Autophagy deficiency in neurodevelopmental disorders.

Deng Z et al.

Cell & Bioscience, 2021

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.

Monfrini E et al.

Annals of Neurology, 2021

PP1C and PP2A are p70S6K Phosphatases Whose Inhibition Ameliorates HLD12-Associated Inhibition of Oligodendroglial Cell Morphological Differentiation.

Matsumoto N et al.

Biomedicines, 2020

Mendelian neurodegenerative disease genes involved in autophagy.

Stamatakou E et al.

Cell Discovery, 2020

Autophagy in childhood neurological disorders.

Zhu Y et al.

Developmental Medicine and Child Neurology, 2019

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

Zhang J et al.

Plos Genetics, 2016

Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.

Edvardson S et al.

Journal of Medical Genetics, 2015

Characterization of the Expression of Vacuolar Protein Sorting 11 (Vps11) in Mammalian Oligodendrocytes.

Skoff RP et al.

Asn Neuro, 0

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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."