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

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 hyp...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mol Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2017
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7462055/
https://ncbi.nlm.nih.gov/pubmed/28973395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx338
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