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

Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis.

Journal of theoretical biology - 7 Aug 2014

Vinay Kumar Chundi, Kumar K M, Swetha Rayapadi, Ramaiah Sudha, Anbarasu Anand

Abstract excerpt

Mutations in the gene encoding vesicle-associated membrane protein (VAPB) cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. The VAPB gene is mapped to chromosome number 20 and can be found at cytogenetic location 20q13.33 of the chromosome. VAPB is seen to play a significant role in the unfolded protein response (UPR), which is a process that suppresses the accumulation of unfolded...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Datasets as Topic

Share to Molecular Dynamics Simulation

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Share to Protein Aggregation, Pathological

Share to Unfolded Protein Response

Source

Identifiers

PMID: 24681403
DOI: 10.1016/j.jtbi.2014.03.027

Genes

VAPB
XBP1

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

Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis.PMID 24681403Read ↗

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

A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteins.Semantic proximity Read ↗

<i>In silico</i> Study of the Uncertainly Significant <i>VCP</i> Variants reveal major Structural, Functional fluctuations leading to potential Disease-Based AssociationsSemantic proximity Read ↗

A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics.Semantic proximity Read ↗

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

ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB.Semantic proximity Read ↗

Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral SclerosisSemantic proximity Read ↗

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

Amyotrophic Lateral Sclerosis Type 20 - In Silico Analysis and Molecular Dynamics Simulation of hnRNPA1.Semantic proximity Read ↗

Human VAPA and the yeast VAP Scs2p with an altered proline distribution can phenocopy amyotrophic lateral sclerosis-associated VAPB(P56S).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 ↗

First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis.Semantic proximity Read ↗

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