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Article

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

Human molecular genetics - 15 Nov 2017

Curiel Julian, Rodríguez Bey Guillermo, Takanohashi Asako, Bugiani Marianna, Fu Xiaoqin, Wolf Nicole I, Nmezi Bruce, Schiffmann Raphael, Bugaighis Mona, Pierson Tyler, Helman Guy, Simons Cas, van der Knaap Marjo S, Liu Judy, Padiath Quasar, Vanderver Adeline

Abstract excerpt

Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain myelin, but the cellular mechanisms of hypomyelination are often poorly understood. Mutations in TUBB4A, encoding the tubulin isoform tubulin beta class IVA (Tubb4a), result in the symptom complex of hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). Additionally, TUBB4A mutations are known to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28973395
DOI: 10.1093/hmg/ddx338
PMCID: PMC7462055

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TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.PMID 28973395Read ↗

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

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