Article
Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.
Human mutation - 1 Sept 2014
Hettich Jasmin, Ryan Scott D, de Souza Osmar Norberto, Saraiva Macedo Timmers Luís Fernando, 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
Abstract excerpt
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 lumen and nuclear envelope. This deletion commonly underlies early-onset DYT1 dystonia. While the role of the disease-causing...
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