Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.K31K
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VAPB

NM_004738.5:p.K31K

Associated Papers

Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis.

Ms S et al.

Molecular Neurobiology, 2025

Dysbiosis and Neurodegeneration in ALS: Unraveling the Gut-Brain Axis.

Sharma VK

Neuromolecular Medicine, 2025

Disturb mitochondrial associated proteostasis: Neurodegeneration and imperfect ageing.

Jagtap YA et al.

Frontiers in Cell and Developmental Biology, 2023

Autophagy Dysfunction in ALS: from Transport to Protein Degradation.

Cozzi M et al.

Journal of Molecular Neuroscience : Mn, 2022

VAPB depletion alters neuritogenesis and phosphoinositide balance in motoneuron-like cells: relevance to VAPB-linked amyotrophic lateral sclerosis.

Genevini P et al.

Journal of Cell Science, 2019

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis.

Prasad A et al.

Frontiers in Molecular Neuroscience, 2019

Aproximación genética en la esclerosis lateral amiotrófica.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

Genetic approach in amyotrophic lateral sclerosis.

Cervantes-Aragón I et al.

Gaceta Medica De Mexico, 2019

Sigma 1 receptor activation modifies intracellular calcium exchange in the G93AhSOD1 ALS model.

Tadić V et al.

Neuroscience, 2017

Neuronal overexpression of human VAPB slows motor impairment and neuromuscular denervation in a mouse model of ALS.

Kim JY et al.

Human Molecular Genetics, 2016

Genotype-phenotype correlations of amyotrophic lateral sclerosis.

Li HF et al.

Translational Neurodegeneration, 2016

ALS-Linked P56S-VAPB Mutation Impairs the Formation of Multinuclear Myotube in C2C12 Cells.

Tokutake Y et al.

International Journal of Molecular Sciences, 2015

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Yamashita S et al.

Translational Neurodegeneration, 2015

The ALS8 protein VAPB interacts with the ER-Golgi recycling protein YIF1A and regulates membrane delivery into dendrites.

Kuijpers M et al.

The Embo Journal, 2013

Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice.

Qiu L et al.

Molecular Neurodegeneration, 2013

Restructured endoplasmic reticulum generated by mutant amyotrophic lateral sclerosis-linked VAPB is cleared by the proteasome.

Papiani G et al.

Journal of Cell Science, 2012

Cellular pathways of hereditary spastic paraplegia.

Blackstone C

Annual Review of Neuroscience, 2012

FTD and ALS: a tale of two diseases.

Ferrari R et al.

Current Alzheimer Research, 2011

Genetic rodent models of amyotrophic lateral sclerosis.

Van Den Bosch L

Journal of Biomedicine & Biotechnology, 2011

Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.

Chen HJ et al.

The Journal of Biological Chemistry, 2010

ER stress and unfolded protein response in amyotrophic lateral sclerosis.

Kanekura K et al.

Molecular Neurobiology, 2009

Mutant VAPB: Culprit or Innocent Bystander of Amyotrophic Lateral Sclerosis?

Borgese N et al.

Contact (thousand Oaks (ventura County, Calif.)), 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."