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Article

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

eLife - 28 May 2020

Sase Sunetra, Almad Akshata A, Boecker C Alexander, Guedes-Dias Pedro, Li Jian J, Takanohashi Asako, Patel Akshilkumar, McCaffrey Tara, Patel Heta, Sirdeshpande Divya, Curiel Julian, Shih-Hwa Liu Judy, Padiath Quasar, Holzbaur Erika Lf, Scherer Steven S, Vanderver Adeline

Abstract excerpt

Mutations in TUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring variant p.Asp249Asn (D249N). We have developed a novel knock-in mouse model harboring heterozygous (Tubb4aD249N/+) and the homozygous (Tubb4aD249N/D249N) mutation that recapitulate the progressive motor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32463361
DOI: 10.7554/eLife.52986
PMCID: PMC7255805

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model.PMID 32463361Read ↗

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

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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 ↗

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