Mutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogaster

Dystonia represents the third most common movement disorder in humans with over 20 genetic loci identified. TOR1A (DYT1), the gene responsible for the most common primary hereditary dystonia, encodes torsinA, an AAA ATPase family protein. Most cases of DYT1 dystonia are caused by a 3 bp (ΔGAG) delet...

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Detalles Bibliográficos
Autores principales: Wakabayashi-Ito, Noriko, Ajjuri, Rami R., Henderson, Benjamin W., Doherty, Olugbenga M., Breakefield, Xandra O., O'Donnell, Janis M., Ito, Naoto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4434810/
https://www.ncbi.nlm.nih.gov/pubmed/25887123
http://dx.doi.org/10.1242/bio.201411080

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