Article
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
eLife - 4 Aug 2016
Demircioglu F Esra, Sosa Brian A, Ingram Jessica, Ploegh Hidde L, Schwartz Thomas U
Abstract excerpt
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 TorsinA ATPase activators: lamina-associated protein 1 (LAP1) and its paralog, luminal domain like LAP1 (LULL1). Using...
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