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Article

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

Human molecular genetics - 1 Nov 2016

Kim Ji-Yoen, Jang Ava, Reddy Rohit, Yoon Wan Hee, Jankowsky Joanna L

Abstract excerpt

Four mutations in the VAMP/synaptobrevin-associated protein B (VAPB) gene have been linked to amyotrophic lateral sclerosis (ALS) type 8. The mechanism by which VAPB mutations cause motor neuron disease is unclear, but studies of the most common P56S variant suggest both loss of function and dominant-negative sequestration of wild-type protein. Diminished levels of VAPB and its proteolytic cleavage fragment have...

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Source

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Identifiers

PMID: 28173107
DOI: 10.1093/hmg/ddw294
PMCID: PMC6078563

Genes

VAPB
SOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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