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

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 he...

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Bibliographic Details

Published in:	eLife
Main Authors:	Sunetra Sase, Akshata A Almad, C Alexander Boecker, Pedro Guedes-Dias, Jian J Li, Asako Takanohashi, Akshilkumar Patel, Tara McCaffrey, Heta Patel, Divya Sirdeshpande, Julian Curiel, Judy Shih-Hwa Liu, Quasar Padiath, Erika LF Holzbaur, Steven S Scherer, Adeline Vanderver
Format:	Article
Language:	English
Published:	eLife Sciences Publications Ltd 2020-05-01
Subjects:	microtubule hypomyelination neurodegeneration leukodystrophy TUBB4A
Online Access:	https://elifesciences.org/articles/52986