Laddar...

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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:eLife
Huvudupphovsmän: Demircioglu, F Esra, Sosa, Brian A, Ingram, Jessica, Ploegh, Hidde L, Schwartz, Thomas U
Materialtyp: Artigo
Språk:Inglês
Publicerad: eLife Sciences Publications, Ltd 2016
Ämnen:
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!