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Article

First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis.

Biochemical and biophysical research communications - 23 May 2014

Chattopadhyay Dhrubajyoti, Sengupta Soma

Abstract excerpt

Amyotrophic Lateral Sclerosis is a motor neurodegenerative disease which is characterized by progressive loss of motor neurons followed by paralysis and eventually death. In human, VAMP-associated protein B (VAPB) is the causative gene of the familial form of ALS8. Previous studies have shown that P56S and T46I point mutations of hVAPB are present in this form of ALS. Recently, another mutation, V234I of hVAPB...

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Identifiers

PMID: 24792378
DOI: 10.1016/j.bbrc.2014.04.102

Genes

VAPB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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