Article

Therapeutic suppression of <i>Tubb4a</i> rescues H-ABC leukodystrophy

2024-08-27

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 ( Tubb4a KO/KO , Tubb4a D249N/+ , Tubb4a D24...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4f6fd120-9e63-58a0-90c9-279437924fe3
DOI: 10.1101/2024.08.27.609903

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Therapeutic suppression of <i>Tubb4a</i> rescues H-ABC leukodystrophyDOI 10.1101/2024.08.27.609903Read

Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy.Semantic 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

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

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.Semantic proximity Read

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

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

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

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