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Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia

The most common cause of early onset primary dystonia, a neuromuscular disease, is a glutamate deletion (ΔE) at position 302/303 of TorsinA, a AAA+ ATPase that resides in the endoplasmic reticulum. While the function of TorsinA remains elusive, the ΔE mutation is known to diminish binding of two Tor...

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Опубликовано в: :eLife
Главные авторы: Demircioglu, F Esra, Sosa, Brian A, Ingram, Jessica, Ploegh, Hidde L, Schwartz, Thomas U
Формат: Artigo
Язык:Inglês
Опубликовано: eLife Sciences Publications, Ltd 2016
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4999309/
https://ncbi.nlm.nih.gov/pubmed/27490483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.17983
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