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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Bibliographic Details
Published in:Biol Open
Main Authors: Wakabayashi-Ito, Noriko, Ajjuri, Rami R., Henderson, Benjamin W., Doherty, Olugbenga M., Breakefield, Xandra O., O'Donnell, Janis M., Ito, Naoto
Format: Artigo
Language:Inglês
Published: The Company of Biologists 2015
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4434810/
https://ncbi.nlm.nih.gov/pubmed/25887123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/bio.201411080
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