Silencing Primary Dystonia: Lentiviral-Mediated RNA Interference Therapy for DYT1 Dystonia
نویسندگان
چکیده
منابع مشابه
Silencing primary dystonia: lentiviral-mediated RNA interference therapy for DYT1 dystonia.
DYT1 is the most common inherited dystonia. Currently, there are no preventive or curative therapies for this dominantly inherited disease. DYT1 dystonia is caused by a common three-nucleotide deletion in the TOR1A gene that eliminates a glutamic acid residue from the protein torsinA. Recent studies suggest that torsinA carrying the disease-linked mutation, torsinA(DeltaE) acts through a domina...
متن کاملearly-onset primary dystonia (dyt1)
dystonia is a movement disorder that causes sustained muscle contractions, repetitive twisting movements, and abnormal postures of the trunk, neck, face, or arms and legs. inherited dystonias can be classified as primary dystonia, dystonia-plus, heredo-degenerative dystonia, and paroxysmal dyskinesias with dystonia. the primary dystonias are those with no other neurologic abnormalities. primary...
متن کاملDeveloping RNAi therapy For DYT1 dystonia
DYT1 dystonia is an early onset central nervous system-based movement disorder characterized by uncontrolled sustained muscle contractions that can lead to debilitating abnormal postures. Though a genetic mutation in the gene TOR1A is responsible for most DYT1 cases, the low penetrance of the disease implicates additional genetic and environmental modifiers. Current therapeutic options for DYT1...
متن کاملDeep brain stimulation of globuspallidusinternus for DYT1 positive primary generalized dystonia
Background : Deep brain stimulation (DBS) of the globuspallidusinternus (GPi) is recommended as a promising technique for the management of the primary generalized dystonia (PGD) with DYT1 gene mutation. We present the first report of DBS results in Iranian patients with DYT1 positive PGD. Methods : Nine patients who suffered from severely disabling DYT1 positive PGD consecutively were recr...
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...
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ژورنال
عنوان ژورنال: Journal of Neuroscience
سال: 2005
ISSN: 0270-6474,1529-2401
DOI: 10.1523/jneurosci.3016-05.2005