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

Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy.

Molecular therapy : the journal of the American Society of Gene Therapy - 6 May 2026

Sase Sunetra, Hacker Julia L, Napit Prabhat R, Bhagavatula Anjali, Woidill Sarah, D'Alessandro Annemarie, Jeffries Marisa A, Almad Akshata, Takanohashi Asako, Padiath Quasar S, Grinspan Judith B, Marsh Eric D, Vanderver Adeline

Abstract excerpt

Hypomyelination and atrophy of basal ganglia and cerebellum (H-ABC) is a rare leukodystrophy associated with causal variants in β-tubulin 4A (TUBB4A). The recurring variant p.Asp249Asn (D249N) presents in infancy with dystonia, communication deficits, and loss of ambulation during the first decade of life. In this study, we characterized a genetic murine series (Tubb4aKO/KO, Tubb4aD249N/+, Tubb4aD249N/KO, and...

Read the complete abstract on PubMed

Topics

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

Share to Tubulin
Share to Basal Ganglia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellum

Share to Hereditary Central Nervous System Demyelinating Diseases

Share to Mice, Knockout

Share to Myelin Sheath

Share to Oligodendroglia

Share to Oligonucleotides, Antisense

Source

Open in PubMed Open full text

Identifiers

PMID: 41566774
DOI: 10.1016/j.ymthe.2026.01.016
PMCID: PMC13154311

Genes

TUBB4A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy.PMID 41566774Read ↗

Therapeutic suppression of <i>Tubb4a</i> rescues H-ABC leukodystrophySemantic proximity Read ↗

Deletion of <i>TUBB4A</i> mitigates the oligodendrocyte and neuronal deficits in human iPSCs derived from individuals affected by H-ABCSemantic proximity Read ↗

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

Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A.Semantic proximity Read ↗

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.Semantic proximity Read ↗

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.Semantic proximity Read ↗

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

Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.Semantic proximity Read ↗

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.Semantic proximity Read ↗

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.Semantic proximity Read ↗

Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes.Semantic proximity Read ↗

Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition.Semantic proximity Read ↗

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