Condition: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
rs267607134 in
TOR1A gene and
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
PMID 21102408 2011 CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process.
PMID 18167355 2008 The dystonia-associated protein torsinA modulates synaptic vesicle recycling.
PMID 20169475 2010 The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro.
PMID 27490483 2016 Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
PMID 9288096 1997 The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
PMID 14970196 2004 The early onset dystonia protein torsinA interacts with kinesin light chain 1.
PMID 18477710 2008 Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
PMID 18827015 2008 TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.
PMID 19955557 2010 Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
PMID 17428918 2007 Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.
PMID 16361107 2006 Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics.
PMID 15505207 2004 Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant.
PMID 20482602 2011 EFNS guidelines on diagnosis and treatment of primary dystonias.
PMID 10627938 1999 Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
PMID 9576529 1998 The molecular genetics of the dystonias.
PMID 10435508 1999 GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.
PMID 25403864 2014 Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.
PMID 21168499 2011 Genetic and clinical features of primary torsion dystonia.