DYT-TOR1A dystonia is a neurological disorder characterized by involuntary muscle
contractions and abnormal movements. It is a severe genetic form of dystonia caused by …

A GAG deletion in the DYT1 gene is responsible for the autosomal dominant movement
disorder, early onset primary torsion dystonia, which is characterised by involuntary …

TorsinA is a membrane-associated AAA+ (ATPases associated with a variety of cellular
activities) ATPase implicated in primary dystonia, an autosomal-dominant movement …

A specific mutation (ΔE) in torsinA underlies most cases of the dominantly inherited
movement disorder, early-onset torsion dystonia (DYT1). TorsinA, a member of the AAA+ …

As lifelong interphase cells, neurons face an array of unique challenges. A key challenge is
regulating nuclear pore complex (NPC) biogenesis and localization, the mechanisms of …

TorsinA is an AAA+ protein located predominantly in the lumen of the endoplasmic reticulum
(ER) and nuclear envelope responsible for early onset torsion dystonia (DYT1). Most cases …

TorsinA (TorA) is an AAA+ ATPase in the endoplasmic reticulum (ER) lumen that is mutated
in early onset DYT1 dystonia. TorA is an essential protein in mice and is thought to function …

TorsinA is an AAA+ ATPase located within the lumen of the endoplasmic reticulum and
nuclear envelope, with a mutant form causing early onset torsion dystonia (DYT1). Here we …

The loss of a glutamic acid residue in the AAA-ATPase (ATPases associated with diverse
cellular activities) torsinA is responsible for most cases of early onset autosomal dominant …

Early-onset torsion dystonia is the most severe heritable form of dystonia, a human
movement disorder that typically starts during a developmental window in early …