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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Dades bibliogràfiques
Publicat a:eLife
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: eLife Sciences Publications, Ltd 2020
Matèries:
Neuroscience
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7255805/
https://ncbi.nlm.nih.gov/pubmed/32463361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.52986
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