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Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12.
Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the TOR1A gene (also known as DQ2 or DYT1). [5] TorA localizes to the endoplasmic reticulum and contiguous perinuclear space , where its ATPase activity is activated by either LULL1 or LAP1 , respectively.
Primary dystonia is suspected when the dystonia is the only sign and there is no identifiable cause or structural abnormality in the central nervous system. Researchers suspect it is caused by a pathology of the central nervous system , likely originating in those parts of the brain concerned with motor function—such as the basal ganglia and ...
30933 Ensembl ENSG00000160404 ENSMUSG00000009563 UniProt Q5JU69 Q8N2E6 P0C7W3 Q8R1J9 RefSeq (mRNA) NM_001085347 NM_001134430 NM_001134431 NM_001252018 NM_001252021 NM_001252023 NM_130459 NM_152800 RefSeq (protein) NP_001078816 NP_001127902 NP_001127903 NP_001238947 NP_001238950 NP_001238952 NP_569726 NP_001127902.1 NP_690013 NP_001356151 NP_001356152 NP_001356153 NP_001356154 Location (UCSC ...
30935 Ensembl ENSG00000186283 ENSMUSG00000060519 UniProt Q9H497 Q5W0C6 Q9ER38 RefSeq (mRNA) NM_022371 NM_023141 RefSeq (protein) NP_071766 NP_075630 Location (UCSC) Chr 1: 179.08 – 179.1 Mb Chr 1: 156.48 – 156.5 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Torsin family 3 member A is a protein that in humans is encoded by the TOR3A gene. References ^ a b c GRCh38: Ensembl ...
Spasmodic torticollis is one of the most common forms of dystonia seen in neurology clinics, occurring in approximately 0.390% of the United States population in 2007 (390 per 100,000). [3] Worldwide, it has been reported that the incidence rate of spasmodic torticollis is at least 1.2 per 100,000 person years, [ 27 ] and a prevalence rate of ...
Juvenile-onset dystonia is a disorder in which the muscles involuntarily contract, which in turn cause involuntary movements and rather abnormal postures. [1] Symptoms of this disorder vary among the people who have it.
Torsin-1A-interacting protein 1 is a protein that in humans is encoded by the TOR1AIP1 gene. [5] [6] [7] More commonly known as lamina associated polypeptide 1 (LAP1), it is a type II integral membrane protein that resides in the inner nuclear membrane. The luminal domain of LAP1 interacts with Torsin A and is necessary for the ATPase activity ...