A unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner binding
Early onset dystonia is commonly associated with the deletion of one of a pair of glutamate
residues (ΔE302/303) near the C terminus of torsinA, a member of the AAA+ protein family
(ATPases associated with a variety of cellular activities) located in the endoplasmic
reticulum lumen. The functional consequences of the disease-causing mutation, ΔE, are not
currently understood. By contrast to other AAA+ proteins, torsin proteins contain two
conserved cysteine residues in the C-terminal domain, one of which is located in the …
residues (ΔE302/303) near the C terminus of torsinA, a member of the AAA+ protein family
(ATPases associated with a variety of cellular activities) located in the endoplasmic
reticulum lumen. The functional consequences of the disease-causing mutation, ΔE, are not
currently understood. By contrast to other AAA+ proteins, torsin proteins contain two
conserved cysteine residues in the C-terminal domain, one of which is located in the …