Article
Deletion of <i>TUBB4A</i> mitigates the oligodendrocyte and neuronal deficits in human iPSCs derived from individuals affected by H-ABC
2026-08-06
Abstract excerpt
TUBB4A -related leukodystrophy ( TUBB4A -LD) is a rare neurologic disorder with a broad spectrum of phenotypes, including severe early infantile encephalopathy, late infantile Hypomyelination with Atrophy of the Basal ganglia and Cerebellum (H-ABC), and milder late infantile forms. H-ABC is closely associated with a recurrent pathogenic variant, p.Asp249Asn, in the gene encoding tubulin beta class IVA (TUBB4A), a...
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Identifiers and source
- Literature Corpus work
- 658e3817-f21e-510d-a7fe-9c64a7c4ea26
- DOI
- 10.64898/2026.07.31.742062
