Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, torsinA

Early-onset dystonia is associated with the deletion of one of a pair of glutamic acid residues (c.904_906delGAG/c.907_909delGAG; p.Glu302del/Glu303del; ΔE 302/303) near the carboxyl-terminus of torsinA, a member of the AAA+ protein family that localizes to the endoplasmic reticulum (ER) lumen and n...

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Autors principals: Hettich, Jasmin, Ryan, Scott D., Norberto de Souza, Osmar, Timmers, Luís Fernando Saraiva Macedo, Tsai, Shelun, Atai, Nadia A., da Hora, Cintia C., Zhang, Xuan, Kothary, Rashmi, Snapp, Erik, Ericsson, Maria, Grundmann, Kathrin, Breakefield, Xandra O., Nery, Flávia C.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4134760/
https://ncbi.nlm.nih.gov/pubmed/24930953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22602
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