H-ABC– and dystonia-causing TUBB4A mutations show distinct pathogenic effects

Mutations in the brain-specific β-tubulin 4A (TUBB4A) gene cause a broad spectrum of diseases, ranging from dystonia (DYT-TUBB4A) to hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Currently, the mechanisms of how TUBB4A variants lead to this pleiotropic manifestation remai...

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Detalles Bibliográficos
Autores principales: Krajka, Victor, Vulinovic, Franca, Genova, Mariya, Tanzer, Kerstin, Jijumon, A. S., Bodakuntla, Satish, Tennstedt, Stephanie, Mueller-Fielitz, Helge, Meier, Britta, Janke, Carsten, Klein, Christine, Rakovic, Aleksandar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2022
Materias:
Biomedicine and Life Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8916731/
https://www.ncbi.nlm.nih.gov/pubmed/35275727
http://dx.doi.org/10.1126/sciadv.abj9229

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