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...
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 |
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Format: | Article |
Language: | English |
Published: |
eLife Sciences Publications Ltd
2020-05-01
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Series: | eLife |
Subjects: | |
Online Access: | https://elifesciences.org/articles/52986 |
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