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

H-ABC tubulinopathy exhibits a cytoskeletal defect associated with microtubule stability.

Neurobiology of disease - 15 Jun 2026

Jaramillo-Restrepo Carla, Piazza Valeria, Hernandez-Morales Ilane, Lopez-Juarez Alejandra, Reséndiz-Nava Luis F, Flores-García Carmen, Cortes Carmen, Eguibar Jose R, Ramírez-Martínez Marco A, Pastor Nina, Hernandez Victor H

Abstract excerpt

Tubulinopathies are a recently characterized group of neurological disorders caused by mutations in tubulin-encoding genes. Among them, mutations in TUBB4A have been linked to hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). In individuals affected by this condition - as well as in the taiep rat, a well-established spontaneous model of the disease - oligodendrocytes display an unusual...

Read the complete abstract on PubMed

Topics

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

Share to Acetylation
Share to Cerebellum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeleton

Share to Microtubules

Share to Oligodendroglia

Share to Protein Processing, Post-Translational

Share to Tubulin

Source

Identifiers

PMID: 42044700
DOI: 10.1016/j.nbd.2026.107420

Genes

TUBB4A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

H-ABC tubulinopathy exhibits a cytoskeletal defect associated with microtubule stability.PMID 42044700Read ↗

Tubulin Posttranslational Modifications and Emerging Links to Human Disease.Semantic proximity Read ↗

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.Semantic proximity Read ↗

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelinationSemantic proximity Read ↗

TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model.Semantic proximity Read ↗

Tubulin Cytoskeleton in Neurodegenerative Diseases–not Only Primary TubulinopathiesSemantic proximity Read ↗

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

Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.Semantic proximity Read ↗

Crosstalk between acetylation and the tyrosination/detyrosination cycle of α-tubulin in Alzheimer’s diseaseSemantic proximity Read ↗

Tubulin autoregulation mediator TTC5 regulates neuronal morphology and migrationSemantic proximity Read ↗

The physiology and pathology of microtubule-associated protein tauSemantic proximity Read ↗

Post-Translational Tubulin Modifications in Differentiated Human Neural Stem CellsSemantic proximity Read ↗

Tau, microtubule dynamics, and axonal transport: New paradigms for neurodegenerative diseaseSemantic proximity Read ↗

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