Ontology highlight
ABSTRACT:
SUBMITTER: Demircioglu FE
PROVIDER: S-EPMC4999309 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Demircioglu F Esra FE Sosa Brian A BA Ingram Jessica J Ploegh Hidde L HL Schwartz Thomas U TU
eLife 20160804
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 a nanobody as a crystallization chaperone, we obtained a 1.4 Å crystal structure of ...[more]