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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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha: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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