Aberrant Cellular Behavior of Mutant TorsinA Implicates Nuclear Envelope Dysfunction in DYT1 Dystonia
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چکیده
منابع مشابه
Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.
Torsion dystonia-1 (DYT1) dystonia, the most common inherited form of dystonia, is caused by a three base pair deletion that eliminates a single amino acid from the disease protein, torsinA. TorsinA is an "AAA" protein thought to reside in the endoplasmic reticulum (ER), yet both its cellular function and the basis for neuronal dysfunction in DYT1 remain unknown. A clue to disease pathogenesis ...
متن کاملTorsinA and DYT1 dystonia: a synaptopathy?
DYT1 dystonia is an autosomal dominant movement disorder, characterized by early onset of involuntary sustained muscle contractions. It is caused by a 3-bp deletion in the DYT1 gene, which results in the deletion of a single glutamate residue in the C-terminus of the protein TA (torsinA). TA is a member of the AAA+ (ATPase associated with various cellular activities) family of chaperones with m...
متن کاملsiRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells.
Most cases of the dominantly inherited movement disorder, early onset torsion dystonia (DYT1) are caused by a mutant form of torsinA lacking a glutamic acid residue in the C-terminal region (torsinADeltaE). TorsinA is an AAA+ protein located predominantly in the lumen of the endoplasmic reticulum (ER) and nuclear envelope apparently involved in membrane structure/movement and processing of prot...
متن کاملLULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation.
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 in the nuclear envelope (NE) despite localizing throughout the ER. Here, we report that transient interaction of TorA with the ER membrane protein LULL1 targets TorA to the NE. FRAP and Blue Native PAGE indicate th...
متن کاملDiminishing evidence for torsinA-positive neuronal inclusions in DYT1 dystonia
DYT1 dystonia, an early onset generalized dystonia, also known as Oppenheim’s dystonia, is an inherited isolated dystonia characterized by progressive generalized muscle spasms and sustained postures leading to significant disability [1]. The disease is inherited in an autosomal dominant manner with incomplete penetrance (30–40 %) and typically presents in childhood [2]. Patients harbor a 3-bp ...
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ژورنال
عنوان ژورنال: Journal of Neuroscience
سال: 2004
ISSN: 0270-6474,1529-2401
DOI: 10.1523/jneurosci.4461-03.2004