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Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE

Dystonia is the third most common movement disorder, but its diagnosis and treatment remain challenging. One of the most severe types of dystonia is early-onset torsion dystonia (EOTD). The best studied and validated EOTD-associated mutation, torsinAΔE, is a deletion of a C-terminal glutamate residu...

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Detalles Bibliográficos
Autores principales: Zacchi, Lucía F., Dittmar, John C., Mihalevic, Michael J., Shewan, Annette M., Schulz, Benjamin L., Brodsky, Jeffrey L., Bernstein, Kara A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5611967/
https://www.ncbi.nlm.nih.gov/pubmed/28768697
http://dx.doi.org/10.1242/dmm.029926