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

In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration.

Scientific reports - 6 Feb 2023

Ganne Akshatha, Balasubramaniam Meenakshisundaram, Ayyadevara Haarika, Kiaei Lily, Shmookler Reis Robert J, Varughese Kottayil I, Kiaei Mahmoud

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is an inexorably progressive and degenerative disorder of motor neurons with no currently-known cure. Studies to determine the mechanism of neurotoxicity and the impact of ALS-linked mutations (SOD1, FUS, TARDP, C9ORF72, PFN1, TUBA4A and others) have greatly expanded our knowledge of ALS disease mechanisms and have helped to identify potential targets for ALS therapy. Cellular...

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 C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanosine Triphosphate

Share to Microtubules

Share to Molecular Docking Simulation

Share to Profilins

Share to Superoxide Dismutase-1

Share to Tubulin

Source

Open in PubMed Open full text

Identifiers

PMID: 36747013
DOI: 10.1038/s41598-023-28381-x
PMCID: PMC9902468

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration.PMID 36747013Read ↗

In Silico Analysis of TUBA4A Mutations in Amyotrophic Lateral Sclerosis to Define Mechanisms of Microtubule DisintegrationSemantic proximity Read ↗

A Case for Microtubule Vulnerability in Amyotrophic Lateral Sclerosis: Altered Dynamics During DiseaseSemantic proximity Read ↗

H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.Semantic proximity Read ↗

Multiple roles for the cytoskeleton in ALSSemantic proximity Read ↗

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.Semantic proximity Read ↗

Novel TUBA4A Variant Associated With Familial Frontotemporal DementiaSemantic proximity Read ↗

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.Semantic proximity Read ↗

Missense variants in<i>TUBA4A</i>cause myo-tubulinopathiesSemantic proximity Read ↗

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.Semantic proximity Read ↗

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.Semantic proximity Read ↗

New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosisSemantic proximity Read ↗

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Semantic proximity Read ↗

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