Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect.

Journal of cell science - 15 Jun 2012

Tran Duvinh, Chalhoub Antonious, Schooley Allana, Zhang Wendy, Ngsee Johnny K

Abstract excerpt

A proline to serine mutation (P56S) in vesicle-associated membrane protein-associated protein B and C (VAPB) causes an autosomal dominant form of amyotrophic lateral sclerosis (ALS). We show that the mutation also causes a nuclear envelope defect. Transport of nucleoporins (Nups) and emerin (EMD) to the nuclear envelope is blocked, resulting in their sequestration in dilated cytoplasmic membranes. Simultaneous...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyotrophic Lateral Sclerosis
Share to HeLa Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Nuclear Envelope

Share to Nuclear Pore Complex Proteins

Share to Nuclear Proteins

Share to Protein Transport

Share to Vesicular Transport Proteins

Source

Identifiers

PMID: 22454507
DOI: 10.1242/jcs.102111

Genes

VAPB
EMD

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect.PMID 22454507Read ↗

Oxysterol-binding protein ORP3 rescues the Amyotrophic Lateral Sclerosis-linked mutant VAPB phenotype.Semantic proximity Read ↗

The Link between VAPB Loss of Function and Amyotrophic Lateral Sclerosis.Semantic proximity Read ↗

Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates.Semantic proximity Read ↗

A VAPB mutant linked to amyotrophic lateral sclerosis generates a novel form of organized smooth endoplasmic reticulum.Semantic proximity Read ↗

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

Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8).Semantic proximity Read ↗

Mutant VAPB: Culprit or Innocent Bystander of Amyotrophic Lateral Sclerosis?Semantic proximity Read ↗

The amyotrophic lateral sclerosis 8 protein, VAP, is required for ER protein quality control.Semantic proximity Read ↗

VAP Proteins – From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal DiseaseSemantic proximity Read ↗

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral SclerosisSemantic proximity Read ↗

Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondriaSemantic proximity Read ↗

Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.