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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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Bibliografske podrobnosti
izdano v: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
Jezik:Inglês
Izdano: The Company of Biologists 2015
Teme:
Online dostop: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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