Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations
K Kustedjo, MH Bracey, BF Cravatt - Journal of Biological Chemistry, 2000 - ASBMB
Early-onset torsion dystonia is an autosomal dominant hyperkinetic movement disorder that
has recently been linked to a 3-base pair deletion in the DYT1 gene. TheDYT1 gene
encodes a 332-amino acid protein, torsin A, that bears low but significant homology to the
Hsp100/Clp family of ATPase chaperones. The deletion in DYT1 associated with torsion
dystonia results in the loss of one of a pair of glutamic acid residues residing near the C
terminus of torsin A (ΔE-torsin A). At present, little is known about the expression, subcellular …
has recently been linked to a 3-base pair deletion in the DYT1 gene. TheDYT1 gene
encodes a 332-amino acid protein, torsin A, that bears low but significant homology to the
Hsp100/Clp family of ATPase chaperones. The deletion in DYT1 associated with torsion
dystonia results in the loss of one of a pair of glutamic acid residues residing near the C
terminus of torsin A (ΔE-torsin A). At present, little is known about the expression, subcellular …
