TOR1A

Summary

Gene Symbol: TOR1A
Description: torsin family 1 member A
Alias: DQ2, DYT1, torsin-1A, dystonia 1 protein, dystonia 1, torsion (autosomal dominant; torsin A), torsin A, torsin ATPase 1, torsin ATPase-1A
Species: human
Products:     TOR1A

Top Publications

  1. Leung J, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, et al. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics. 2001;3:133-43 pubmed
    ..In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which ..
  2. Kamm C, Asmus F, Mueller J, Mayer P, Sharma M, Muller U, et al. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology. 2006;67:1857-9 pubmed
    Recently, association of a TOR1A(DYT1)/TOR1B risk haplotype with common forms of idiopathic dystonia has been reported in the Icelandic population...
  3. Zhu L, Millen L, Mendoza J, Thomas P. A unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner binding. J Biol Chem. 2010;285:37271-80 pubmed publisher
    ..that the cysteine-containing sensor II plays a critical role in redox sensing and the nucleotide and partner binding functions of torsinA and suggest that loss of this function of torsinA contributes to the development of DYT1 dystonia.
  4. Carbon M, Su S, Dhawan V, Raymond D, Bressman S, Eidelberg D. Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. Neurology. 2004;62:1384-90 pubmed
    ..pattern of regional glucose metabolism that was expressed in both manifesting and nonmanifesting carriers of the DYT1 primary dystonia mutation...
  5. Foisner R, Gerace L. Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation. Cell. 1993;73:1267-79 pubmed
    ..Together, these data suggest that LAP 2 may have a key role in initial events of nuclear envelope reassembly, and that both LAP 2 and LAP 1 may be involved in attaching lamins to the nuclear envelope. ..
  6. Frédéric M, Lucarz E, Monino C, Saquet C, Thorel D, Claustres M, et al. First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population. Mov Disord. 2007;22:884-8 pubmed
    The c.907delGAG mutation in the TOR1A gene (also named DYT1) is the most common cause of early-onset primary dystonia...
  7. Goodchild R, Dauer W. The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. J Cell Biol. 2005;168:855-62 pubmed
    A glutamic acid deletion (DeltaE) in the AAA+ protein torsinA causes DYT1 dystonia...
  8. Grundmann K, Laubis Herrmann U, Bauer I, Dressler D, Vollmer Haase J, Bauer P, et al. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol. 2003;60:1266-70 pubmed
    ..A 3-base pair (GAG) deletion in the DYT1 gene is held responsible for most cases of early-onset primary generalized dystonia in the Ashkenazi Jewish ..
  9. Callan A, Bunning S, Jones O, High S, Swanton E. Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum. Biochem J. 2007;401:607-12 pubmed
    ..The finding that torsinA is a peripheral, and not an integral membrane protein as previously thought, has important implications for understanding the function of this novel ATPase. ..

More Information

Publications81

  1. Jamora R, Tan E, Liu C, Kathirvel P, Burgunder J, Tan L. DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West. J Neurol Sci. 2006;247:35-7 pubmed
    ..At least 13 different genes and gene loci have been reported. While a 3-bp deletion in the DYT1 gene is the most frequent cause of early limb-onset, generalized dystonia, it has also been found in non-..
  2. Lin Y, Chang H, Chou Y, Chen R, Hsu W, Wu W, et al. DYT1 mutation in a cohort of Taiwanese primary dystonias. Parkinsonism Relat Disord. 2006;12:15-9 pubmed
    To investigate the DYT1 gene mutation in Chinese ethnic, we examined a series of 200 patients with primary dystonias (11 familial and 189 sporadic), 53 of their asymptomatic relatives, 97 patients with familial or early-onset parkinsonism,..
  3. Gajos A, Piaskowski S, Sławek J, Ochudło S, Opala G, Łobińska A, et al. Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report. Neurol Neurochir Pol. 2007;41:487-94 pubmed
    b>DYT1 dystonia is the most common form of inherited primary dystonia...
  4. Kabakci K, Hedrich K, Leung J, Mitterer M, Vieregge P, Lencer R, et al. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology. 2004;62:395-400 pubmed
    ..of early-onset primary torsion dystonia (PTD) are caused by the same three-base pair (bp) (GAG) deletion in the DYT1 gene. Exon rearrangements are a common mutation type in other genes and have not yet been tested for in DYT1...
  5. Hewett J, Nery F, Niland B, Ge P, Tan P, Hadwiger P, et al. siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells. Hum Mol Genet. 2008;17:1436-45 pubmed publisher
    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)...
  6. Granata A, Warner T. The role of torsinA in dystonia. Eur J Neurol. 2010;17 Suppl 1:81-7 pubmed publisher
    b>DYT1 dystonia is an autosomal-dominant movement disorder, characterised by early onset of involuntary sustained muscle contractions...
  7. Yang J, Li J, Li Y, Wu T, Zhang Y, Chen B. DYT1 mutations amongst early onset primary dystonia patients in China. Chin Med Sci J. 2008;23:38-43 pubmed
    To investigate the frequency of GAG deletion in the DYT1 gene among early onset primary dystonia patients in China...
  8. Hjermind L, Werdelin L, Sørensen S. Inherited and de novo mutations in sporadic cases of DYT1-dystonia. Eur J Hum Genet. 2002;10:213-6 pubmed
    ..Mutation analyses for the GAG-deletion in the DYT1 gene were performed on 107 probands; and the mutation was detected in three...
  9. Sharma N, Hewett J, Ozelius L, Ramesh V, McLean P, Breakefield X, et al. A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. Am J Pathol. 2001;159:339-44 pubmed
    ..Using sensitive fluorescent resonance energy transfer (FRET) techniques, we find evidence of a close association between torsinA and alpha-synuclein in Lewy bodies. ..
  10. Balcioglu A, Kim M, Sharma N, Cha J, Breakefield X, Standaert D. Dopamine release is impaired in a mouse model of DYT1 dystonia. J Neurochem. 2007;102:783-8 pubmed
    Early onset torsion dystonia, the most common form of hereditary primary dystonia, is caused by a mutation in the TOR1A gene, which codes for the protein torsinA. This form of dystonia is referred to as DYT1...
  11. Naiya T, Biswas A, Neogi R, Datta S, Misra A, Das S, et al. Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients. Acta Neurol Scand. 2006;114:210-5 pubmed
    ..study is to examine the relative distribution of the primary dystonia subtypes and identify mutation (s) in the DYT1 gene in Indian patients...
  12. Zirn B, Grundmann K, Huppke P, Puthenparampil J, Wolburg H, Riess O, et al. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J Neurol Neurosurg Psychiatry. 2008;79:1327-30 pubmed publisher
    The three-nucleotide deletion, triangle upGAG (within the gene TOR1A), is the only proven cause of childhood-onset dystonia (DYT1). A potentially pathogenic role of additional sequence changes within TOR1A has not been conclusively shown...
  13. Vander Heyden A, Naismith T, Snapp E, Hanson P. Static retention of the lumenal monotopic membrane protein torsinA in the endoplasmic reticulum. EMBO J. 2011;30:3217-31 pubmed publisher
    TorsinA is a membrane-associated enzyme in the endoplasmic reticulum (ER) lumen that is mutated in DYT1 dystonia. How it remains in the ER has been unclear...
  14. Kamm C, Castelon Konkiewitz E, Naumann M, Heinen F, Brack M, Nebe A, et al. GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov Disord. 1999;14:681-3 pubmed
    We examined 57 patients with idiopathic torsion dystonia (ITD) for the 3-bp GAG deletion in the DYT1 gene on human chromosome 9q34...
  15. Carbon M, Kingsley P, Su S, Smith G, Spetsieris P, Bressman S, et al. Microstructural white matter changes in carriers of the DYT1 gene mutation. Ann Neurol. 2004;56:283-6 pubmed
    We tested the hypothesis that the DYT1 genotype is associated with a disorder of anatomical connectivity involving primarily the sensorimotor cortex...
  16. Torres G, Sweeney A, Beaulieu J, Shashidharan P, Caron M. Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Proc Natl Acad Sci U S A. 2004;101:15650-5 pubmed
    ..These properties may contribute to the autosomal dominant nature of the condition...
  17. Vander Heyden A, Naismith T, Snapp E, Hodzic D, Hanson P. LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. Mol Biol Cell. 2009;20:2661-72 pubmed publisher
    TorsinA (TorA) is an AAA+ ATPase in the endoplasmic reticulum (ER) lumen that is mutated in early onset DYT1 dystonia...
  18. Kock N, Naismith T, Boston H, Ozelius L, Corey D, Breakefield X, et al. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet. 2006;15:1355-64 pubmed
    Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a 3 bp (DeltaGAG) deletion, underlies dominantly inherited cases of early-onset torsion dystonia...
  19. Major T, Svetel M, Romac S, Kostic V. DYT1 mutation in primary torsion dystonia in a Serbian population. J Neurol. 2001;248:940-3 pubmed
    ..A GAG deletion at position 946 in the DYT1 gene is responsible for most cases of autosomal dominant early-onset PTD...
  20. Im J, Ahn T, Kim K, Ko S, Jeon B. DYT1 mutation in Korean primary dystonia patients. Parkinsonism Relat Disord. 2004;10:421-3 pubmed
    One hundred sixty-two patients with Korean primary dystonia patients were screened for DYT1 mutation. Five patients were positive for DYT1 mutation. Generalized dystonia patients have higher rate of DYT1 mutation (3/7)...
  21. Watanabe T, Nishio K, Kanome T, Matsuyama T, Koba S, Sakai T, et al. Impact of salusin-alpha and -beta on human macrophage foam cell formation and coronary atherosclerosis. Circulation. 2008;117:638-48 pubmed publisher
    ..Development of atherosclerosis may be accelerated by salusin-beta and suppressed by salusin-alpha via ACAT-1 regulation. ..
  22. Klein C, Liu L, Doheny D, Kock N, Müller B, de Carvalho Aguiar P, et al. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. Ann Neurol. 2002;52:675-9 pubmed
    ..disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE...
  23. Martin J, Bair T, Bode N, Dauer W, Gonzalez Alegre P. Transcriptional and proteomic profiling in a cellular model of DYT1 dystonia. Neuroscience. 2009;164:563-72 pubmed publisher
    DYT1, the most common inherited dystonia, is caused by a common dominant mutation in the TOR1A gene that leads to a glutamic acid deletion in the protein torsinA...
  24. Lee D, Seo J, Ganetzky B, Koh Y. DeltaFY mutation in human torsin A [corrected] induces locomotor disability and abberant synaptic structures in Drosophila. Mol Cells. 2009;27:89-97 pubmed publisher
    ..cellular etiologies that underlie the deletion of the six amino acid residues (DeltaF323-Y328; DeltaFY) in human torsin A (HtorA)...
  25. Ozelius L, Hewett J, Page C, Bressman S, Kramer P, Shalish C, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997;17:40-8 pubmed
    ..This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease...
  26. Hewett J, Zeng J, Niland B, Bragg D, Breakefield X. Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol Dis. 2006;22:98-111 pubmed
    ..Most cases are caused by loss of a glutamic acid residue in the AAA+ chaperone protein, torsinA, encoded in the DYT1 gene...
  27. McNaught K, Kapustin A, Jackson T, Jengelley T, Jnobaptiste R, Shashidharan P, et al. Brainstem pathology in DYT1 primary torsion dystonia. Ann Neurol. 2004;56:540-7 pubmed
    b>DYT1 dystonia is a severe form of young-onset dystonia caused by a mutation in the gene that encodes for the protein torsinA, which is thought to play a role in protein transport and degradation...
  28. Goodchild R, Dauer W. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci U S A. 2004;101:847-52 pubmed
    ..DYT1 dystonia is a form of primary dystonia caused by an in-frame GAG deletion (DeltaE302/3) in the TOR1A gene that encodes the endoplasmic reticulum luminal protein torsinA...
  29. Hewett J, Ziefer P, Bergeron D, Naismith T, Boston H, Slater D, et al. TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. J Neurosci Res. 2003;72:158-68 pubmed
    Most cases of early-onset torsion dystonia are caused by deletion of GAG in the coding region of the DYT1 gene encoding torsinA...
  30. Granata A, Watson R, Collinson L, Schiavo G, Warner T. The dystonia-associated protein torsinA modulates synaptic vesicle recycling. J Biol Chem. 2008;283:7568-79 pubmed publisher
    ..This may affect neuronal uptake of neurotransmitters, such as dopamine, playing a role in the development of dystonic movements...
  31. Chen P, Burdette A, Porter J, Ricketts J, Fox S, Nery F, et al. The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response. Hum Mol Genet. 2010;19:3502-15 pubmed publisher
    ..Deletion in the DYT1 gene, encoding the torsinA protein, is responsible for this dominantly inherited disorder, which is non-..
  32. Zhu L, Wrabl J, Hayashi A, Rose L, Thomas P. The torsin-family AAA+ protein OOC-5 contains a critical disulfide adjacent to Sensor-II that couples redox state to nucleotide binding. Mol Biol Cell. 2008;19:3599-612 pubmed publisher
    ..We propose that the Sensor-II in torsin family proteins is a redox-regulated sensor. This regulatory mechanism may be central to the function of OOC-5 and human torsinA. ..
  33. Naismith T, Dalal S, Hanson P. Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion. J Biol Chem. 2009;284:27866-74 pubmed publisher
    Early onset (DYT1) torsion dystonia is a dominantly inherited movement disorder associated with a three-base pair (DeltaGAG) deletion that removes a glutamic acid residue from the protein torsinA...
  34. Joachims M, Leehan K, Lawrence C, Pelikan R, Moore J, Pan Z, et al. Single-cell analysis of glandular T cell receptors in Sjögren's syndrome. JCI Insight. 2016;1: pubmed
    ..T cells from SG and peripheral blood (PB) of 10 individuals with primary SS, 9 of whom shared the HLA DR3/DQ2 risk haplotype. TCR? and ? sequences were obtained from a median of 91 SG and 107 PB cells per subject...
  35. Kolte A, Nielsen H, Steffensen R, Crespi B, Christiansen O. Inheritance of the 8.1 ancestral haplotype in recurrent pregnancy loss. Evol Med Public Health. 2015;2015:325-31 pubmed publisher
    The 8.1 ancestral haplotype (AH) (HLA-A1, C7, B8, C4AQ0, C4B1, DR3, DQ2) is a remarkably long and conserved haplotype in the human major histocompatibility complex...
  36. Golanska E, Gajos A, Sieruta M, Szybka M, Rudzinska M, Ochudlo S, et al. Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. PLoS ONE. 2015;10:e0129656 pubmed publisher
    ..We sequenced THAP1 exons 1, 2 and 3 including exon-intron boundaries and 5'UTR fragment in 96 non-DYT1 dystonia patients. In four individuals single nucleotide variations were identified...
  37. Kooy Winkelaar Y, Bouwer D, Janssen G, Thompson A, Brugman M, Schmitz F, et al. CD4 T-cell cytokines synergize to induce proliferation of malignant and nonmalignant innate intraepithelial lymphocytes. Proc Natl Acad Sci U S A. 2017;114:E980-E989 pubmed publisher
    ..Like CD, RCDII is strongly associated with HLA-DQ2, suggesting the involvement of HLA-DQ2-restricted gluten-specific CD4+ T cells...
  38. Gordon K, Glenn K, Gonzalez Alegre P. Exploring the influence of torsinA expression on protein quality control. Neurochem Res. 2011;36:452-9 pubmed publisher
    b>DYT1 dystonia is caused by a glutamic acid deletion (?E) in the endoplasmic reticulum (ER) protein torsinA...
  39. Jahanshahi M. Neuropsychological and Neuropsychiatric Features of Idiopathic and DYT1 Dystonia and the Impact of Medical and Surgical treatment. Arch Clin Neuropsychol. 2017;32:888-905 pubmed publisher
    ..Executive dysfunction is a feature of cognitive function in idiopathic and DYT1 dystonia...
  40. Piancatelli D, Ben El Barhdadi I, Oumhani K, Sebastiani P, Colanardi A, Essaid A. HLA Typing and Celiac Disease in Moroccans. Med Sci (Basel). 2017;5: pubmed publisher
    ..The classical HLA-DQ associations were confirmed in Moroccans with CD. The high frequency of DQ2.5 homozygosity (45.2%) found in Moroccans with CD was noteworthy as compared with other populations (23%-32%)...
  41. Augood S, Keller McGandy C, Siriani A, Hewett J, Ramesh V, Sapp E, et al. Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain. Brain Res. 2003;986:12-21 pubmed
    We have examined the distribution and ultrastructural localization of torsinA, the protein product of the TOR1A gene, in the normal adult human and Macaque brain...
  42. Warner T, Granata A, Schiavo G. TorsinA and DYT1 dystonia: a synaptopathy?. Biochem Soc Trans. 2010;38:452-6 pubmed publisher
    b>DYT1 dystonia is an autosomal dominant movement disorder, characterized by early onset of involuntary sustained muscle contractions...
  43. Sibbing D, Asmus F, Konig I, Tezenas du Montcel S, Vidailhet M, Sangla S, et al. Candidate gene studies in focal dystonia. Neurology. 2003;61:1097-101 pubmed
    Genetic susceptibility factors for focal idiopathic torsion dystonia (F-ITD) are not established. Mutations in the DYT1 gene can cause focal dystonia, and an association with a polymorphism in the D5 receptor gene (DRD5) has been reported ..
  44. Lionetti E, Castellaneta S, Francavilla R, Pulvirenti A, Catassi C. Mode of Delivery and Risk of Celiac Disease: Risk of Celiac Disease and Age at Gluten Introduction Cohort Study. J Pediatr. 2017;184:81-86.e2 pubmed publisher
    ..The study-group included 553 children at CD risk because of positivity for human leukocyte antigen-DQ2, -DQ8, or both...
  45. Fasano M, Dametto E, D Alfonso S. HLA Genotyping: Methods for the Identification of the HLA-DQ2,-DQ8 Heterodimers Implicated in Celiac Disease (CD) Susceptibility. Methods Mol Biol. 2015;1326:79-92 pubmed publisher
    ..HLA-DQA1* and -DQB1* alleles associated with celiac disease (CD), corresponding to the serological heterodimers HLA-DQ2 and -DQ8...
  46. Grillet M, Dominguez Gonzalez B, Sicart A, Pöttler M, Cascalho A, Billion K, et al. Torsins Are Essential Regulators of Cellular Lipid Metabolism. Dev Cell. 2016;38:235-47 pubmed publisher
    Torsins are developmentally essential AAA+ proteins, and mutation of human torsinA causes the neurological disease DYT1 dystonia. They localize in the ER membranes, but their cellular function remains unclear...
  47. Bragg D, Kaufman C, Kock N, Breakefield X. Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA. Mol Cell Neurosci. 2004;27:417-26 pubmed
    Most cases of early-onset torsion dystonia are associated with a mutation in the DYT1 gene that results in the loss of a glutamic acid residue in the carboxy terminus of the encoded protein, torsinA...
  48. Bhagat S, Qiu S, Caffall Z, Wan Y, Pan Y, Rodriguiz R, et al. Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models. Neurobiol Dis. 2016;93:137-45 pubmed publisher
    ..delGAG, p. ΔE 302/303) in the Tor1a gene. Here we examine the significance of a rare missense variant in the Tor1a gene (c. 613T>A, p...
  49. O Brien C. Bioinformatic Analysis of Antigenic Proteins in Celiac Disease. Methods Mol Biol. 2015;1326:193-201 pubmed publisher
    ..have implicated gut enzymes, tissue transglutaminase-mediated deamidation, and peptide binding affinity for the HLA-DQ2 and DQ8 molecules in disease pathogenesis...
  50. Tewari A, Fremont R, Khodakhah K. It's not just the basal ganglia: Cerebellum as a target for dystonia therapeutics. Mov Disord. 2017;32:1537-1545 pubmed publisher
    ..to suggest that the cerebellum plays a role in some dystonias, including the early-onset primary torsion dystonia DYT1 and that further studies examining the role of this brain region and its interaction with the basal ganglia in ..
  51. Wang L, Duan C, Gao Y, Xu W, Ding J, Liu V, et al. Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population. Clin Neurol Neurosurg. 2016;142:26-30 pubmed publisher
    b>TOR1A (torsin family 1, member A) and THAP1 (THAP domain containing, apoptosis associated protein 1) are two candidate genes that have been reported to be linked to adult-onset primary dystonia...
  52. Sharma N, Franco R. Consideration of genetic contributions to the risk for spasmodic dysphonia. Otolaryngol Head Neck Surg. 2011;145:369-70 pubmed publisher
    ..Thus, research in the growing field of dystonia genetics may help to inform our understanding of the pathogenesis of spasmodic dysphonia. ..
  53. Wong V, Lam C, Fung C. Stiff child syndrome with mutation of DYT1 gene. Neurology. 2005;65:1465-6 pubmed
    The authors report a Chinese boy with a DYT1 gene mutation having muscle stiffness, severe painful muscle spasm, myoclonus, and dystonia compatible with stiff child syndrome...
  54. Zhao C, Brown R, Chase A, Eisele M, Schlieker C. Regulation of Torsin ATPases by LAP1 and LULL1. Proc Natl Acad Sci U S A. 2013;110:E1545-54 pubmed publisher
    ..The dystonia-causing mutant of TorsinA is defective in this activation mechanism, suggesting a loss-of-function mechanism for this congenital disorder...
  55. Groen J, Ritz K, Tanck M, van de Warrenburg B, Van Hilten J, Aramideh M, et al. Is TOR1A a risk factor in adult-onset primary torsion dystonia?. Mov Disord. 2013;28:827-31 pubmed publisher
    Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results...
  56. Padaliya B, Davis T, Newman W, Konrad P, Covington C, Gill C, et al. Bilateral globus pallidus internus deep brain stimulation therapy for primary generalized dystonia. Tenn Med. 2004;97:317-8 pubmed
    Primary generalized dystonia (PGD) associated with the early-onset generalized dystonia gene (DYT1) can cause severe disability, compromising an individual's ability to perform activities of daily living...
  57. Burdette A, Churchill P, Caldwell G, Caldwell K. The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro. Cell Stress Chaperones. 2010;15:605-17 pubmed publisher
  58. Rittiner J, Caffall Z, Hernández Martinez R, Sanderson S, Pearson J, Tsukayama K, et al. Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia. Neuron. 2016;92:1238-1251 pubmed publisher
    ..Here, we discover a role for deficient eIF2α signaling in DYT1 dystonia, a rare inherited generalized form, through a genome-wide RNAi screen...
  59. Rothwell J, Edwards M, Huang Y, Bhatia K. Physiological studies in carriers of the DYT1 gene mutation. Rev Neurol (Paris). 2003;159:880-4 pubmed
    The DYT1 gene mutation is associated with early onset generalised dystonia. However, only 30-40 per cent of gene carriers develop symptoms...
  60. Sarna V, Lundin K, Mørkrid L, Qiao S, Sollid L, Christophersen A. HLA-DQ-Gluten Tetramer Blood Test Accurately Identifies Patients With and Without Celiac Disease in Absence of Gluten Consumption. Gastroenterology. 2018;154:886-896.e6 pubmed publisher
    Celiac disease is characterized by HLA-DQ2/8-restricted responses of CD4+ T cells to cereal gluten proteins. A diagnosis of celiac disease based on serologic and histologic evidence requires patients to be on gluten-containing diets...
  61. Daveson A, Ee H, Andrews J, King T, Goldstein K, Dzuris J, et al. Epitope-Specific Immunotherapy Targeting CD4-Positive T Cells in Celiac Disease: Safety, Pharmacokinetics, and Effects on Intestinal Histology and Plasma Cytokines with Escalating Dose Regimens of Nexvax2 in a Randomized, Double-Blind, Placebo-Contro. EBioMedicine. 2017;26:78-90 pubmed publisher
    ..Celiac disease patients administered fixed intradermal doses of Nexvax2 become unresponsive to the HLA-DQ2·5-restricted gluten epitopes in Nexvax2, but gastrointestinal symptoms and cytokine release mimicking gluten ..
  62. Rostasy K, Augood S, Hewett J, Leung J, Sasaki H, Ozelius L, et al. TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis. 2003;12:11-24 pubmed
    ..Most cases are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A (DYT1) gene, which is widely expressed in human brain and encodes the protein torsinA...
  63. Kim M, Jeon S, Yoo H, Kim G, Lee M, Chung S. Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation. Mov Disord. 2008;23:2251-5 pubmed publisher
    We report the clinical and molecular features of a family with focal hand dystonia caused by DYT1 mutation...
  64. Ikeuchi T, Shimohata T, Nakano R, Koide R, Takano H, Tsuji S. A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. Neurogenetics. 1999;2:189-90 pubmed
  65. Yang J, Wu T, Li J, Li Y, Zhang Y, Chan P. DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations. Neurosci Lett. 2009;450:117-21 pubmed publisher
    ..The most severe early onset form of dystonia has been linked to mutations in the human DYT1 (TOR1A) gene encoding a protein termed torsinA...
  66. Kostic V, Svetel M, Kabakci K, Ristic A, Petrovic I, Schule B, et al. Intrafamilial phenotypic and genetic heterogeneity of dystonia. J Neurol Sci. 2006;250:92-6 pubmed
    Most cases of early-onset primary torsion dystonia are caused by the same 3-bp (GAG) deletion in the DYT1 gene...
  67. Teleman A. Role for Torsin in Lipid Metabolism. Dev Cell. 2016;38:223-4 pubmed publisher
    b>DYT1 dystonia is a neurological disease that causes involuntary twisting movements, often caused by dysfunction of the TorsinA gene. In this issue of Developmental Cell, Grillet et al...
  68. Carbon M, Argyelan M, Ghilardi M, Mattis P, Dhawan V, Bressman S, et al. Impaired sequence learning in dystonia mutation carriers: a genotypic effect. Brain. 2011;134:1416-27 pubmed publisher
    Abnormalities in motor sequence learning have been observed in non-manifesting carriers of the DYT1 dystonia mutation...
  69. O Farrell C, Hernandez D, Evey C, Singleton A, Cookson M. Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells. Neurosci Lett. 2002;327:75-8 pubmed
    ..This data suggests that the formation of intracellular inclusions is specific to deltaE302/303 and not a property shared by deltaF323-Y328. ..
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    ..Previously, the authors reported a patient with myoclonus-dystonia and an 18-bp deletion in the DYT1 gene on 9q34...
  71. Schmidt A, Altenmüller E, Jabusch H, Lee A, Wiegers K, Klein C, et al. The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystonia. Parkinsonism Relat Disord. 2012;18:690-1 pubmed publisher
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    ..CD serology was negative. HLA-DQ typing showed absence of the DQ2/DQ8 haplotypes...