Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.A145V
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VAPB

NM_004738.5:p.A145V

Associated Papers

Disclosing Pathogenic Variant Effects on the Structural Dynamics of the VAPB MSP Domain Causing Familial ALS.

Bashar MA et al.

International Journal of Molecular Sciences, 2025

Pathogenic mechanisms of amyotrophic lateral sclerosis-linked VAPB P56S mutation in the degeneration of corticospinal motor neurons.

Yang X et al.

Ageing and Neurodegenerative Diseases, 2025

Secretion of endoplasmic reticulum protein VAPB/ALS8 requires topological inversion.

Kamemura K et al.

Nature Communications, 2024

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

VAP Proteins - From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal Disease.

Kors S et al.

Frontiers in Cell and Developmental Biology, 2022

Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.

Bonifacino T et al.

International Journal of Molecular Sciences, 2021

Amyotrophic lateral sclerosis-associated Vap33 is required for maintaining neuronal dendrite morphology and organelle distribution in Drosophila.

Kamemura K et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2021

VAMP associated proteins are required for autophagic and lysosomal degradation by promoting a PtdIns4P-mediated endosomal pathway.

Mao D et al.

Autophagy, 2019

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

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.

Kabashi E et al.

Human Molecular Genetics, 2013

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."