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

Top Publications

  1. ncbi Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    J C Leung
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
    Neurogenetics 3:133-43. 2001
  2. ncbi Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation
    R Foisner
    Department of Cell Biology, Scripps Research Institute, La Jolla, California 92037
    Cell 73:1267-79. 1993
  3. ncbi The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    L J Ozelius
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA
    Nat Genet 17:40-8. 1997
  4. ncbi GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany
    C Kamm
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munchen, Germany
    Mov Disord 14:681-3. 1999
  5. pmc A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study
    N Sharma
    Department of Neurology, Alzheimer s Disease Research Unit, and the Department of Neurology, Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown, Massachusetts Albert Einstein College of Medicine, Bronx, New York
    Am J Pathol 159:339-44. 2001
  6. ncbi DYT1 mutation in primary torsion dystonia in a Serbian population
    T Major
    PCR Center, Faculty of Biology, University of Belgrade, Yugoslavia
    J Neurol 248:940-3. 2001
  7. ncbi Inherited and de novo mutations in sporadic cases of DYT1-dystonia
    Lena Elisabeth Hjermind
    Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Eur J Hum Genet 10:213-6. 2002
  8. ncbi TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress
    Jeffrey Hewett
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, Massachusetts, USA
    J Neurosci Res 72:158-68. 2003
  9. ncbi Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia
    Kathrin Grundmann
    Department of Neurology, University of Tubingen, Germany
    Arch Neurol 60:1266-70. 2003
  10. pmc Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation
    Rose E Goodchild
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 101:847-52. 2004

Detail Information

Publications214 found, 100 shown here

  1. ncbi Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    J C Leung
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
    Neurogenetics 3:133-43. 2001
    ..In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which ..
  2. ncbi Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation
    R Foisner
    Department of Cell Biology, Scripps Research Institute, La Jolla, California 92037
    Cell 73:1267-79. 1993
    ..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...
  3. ncbi The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    L J Ozelius
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA
    Nat Genet 17:40-8. 1997
    ..This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease...
  4. ncbi GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany
    C Kamm
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, Munchen, Germany
    Mov Disord 14:681-3. 1999
    We examined 57 patients with idiopathic torsion dystonia (ITD) for the 3-bp GAG deletion in the DYT1 gene on human chromosome 9q34...
  5. pmc A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study
    N Sharma
    Department of Neurology, Alzheimer s Disease Research Unit, and the Department of Neurology, Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown, Massachusetts Albert Einstein College of Medicine, Bronx, New York
    Am J Pathol 159:339-44. 2001
    ..Using sensitive fluorescent resonance energy transfer (FRET) techniques, we find evidence of a close association between torsinA and alpha-synuclein in Lewy bodies...
  6. ncbi DYT1 mutation in primary torsion dystonia in a Serbian population
    T Major
    PCR Center, Faculty of Biology, University of Belgrade, Yugoslavia
    J Neurol 248:940-3. 2001
    ..A GAG deletion at position 946 in the DYT1 gene is responsible for most cases of autosomal dominant early-onset PTD...
  7. ncbi Inherited and de novo mutations in sporadic cases of DYT1-dystonia
    Lena Elisabeth Hjermind
    Department of Medical Genetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Eur J Hum Genet 10:213-6. 2002
    ..Mutation analyses for the GAG-deletion in the DYT1 gene were performed on 107 probands; and the mutation was detected in three...
  8. ncbi TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress
    Jeffrey Hewett
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, Massachusetts, USA
    J Neurosci Res 72:158-68. 2003
    Most cases of early-onset torsion dystonia are caused by deletion of GAG in the coding region of the DYT1 gene encoding torsinA...
  9. ncbi Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia
    Kathrin Grundmann
    Department of Neurology, University of Tubingen, Germany
    Arch Neurol 60:1266-70. 2003
    ..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 ..
  10. pmc Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation
    Rose E Goodchild
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 101:847-52. 2004
    ..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...
  11. ncbi Mutations in DYT1: extension of the phenotypic and mutational spectrum
    K Kabakci
    Department of Neurology, University of Lubeck, Germany
    Neurology 62:395-400. 2004
    ..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...
  12. ncbi Regional metabolism in primary torsion dystonia: effects of penetrance and genotype
    M Carbon
    Center for Neurosciences, North Shore Long Island Jewish Research Institute, Manhasset, NY 11030, USA
    Neurology 62:1384-90. 2004
    The authors have previously used [18F]fluorodeoxyglucose (FDG) PET to identify a reproducible pattern of regional glucose metabolism that was expressed in both manifesting and nonmanifesting carriers of the DYT1 primary dystonia mutation.
  13. ncbi Brainstem pathology in DYT1 primary torsion dystonia
    Kevin St P McNaught
    Department of Neurology, Neuropathology Division, Mount Sinai School of Medicine, New York, NY 10029, USA
    Ann Neurol 56:540-7. 2004
    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...
  14. ncbi DYT1 mutation in Korean primary dystonia patients
    Joo Hyuk Im
    Department of Neurology, Asan Medical Center, University of Ulsan, Seoul, South Korea
    Parkinsonism Relat Disord 10:421-3. 2004
    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)...
  15. pmc Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant
    Gonzalo E Torres
    Department of Neurobiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA
    Proc Natl Acad Sci U S A 101:15650-5. 2004
    ..These properties may contribute to the autosomal dominant nature of the condition...
  16. pmc The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein
    Rose E Goodchild
    Department of Neurology, Columbia University, New York, NY 10032, USA
    J Cell Biol 168:855-62. 2005
    A glutamic acid deletion (DeltaE) in the AAA+ protein torsinA causes DYT1 dystonia...
  17. ncbi DYT1 mutation in a cohort of Taiwanese primary dystonias
    Yen Wen Lin
    Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital, Kweishan, Taoyuan, Taiwan
    Parkinsonism Relat Disord 12:15-9. 2006
    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,..
  18. ncbi Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
    Jeffrey W Hewett
    Molecular Neurogenetics Unit, Departments of Neurology and Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA 02114, USA
    Neurobiol Dis 22:98-111. 2006
    ..Most cases are caused by loss of a glutamic acid residue in the AAA+ chaperone protein, torsinA, encoded in the DYT1 gene...
  19. ncbi Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier
    Norman Kock
    Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
    Hum Mol Genet 15:1355-64. 2006
    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...
  20. ncbi DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West
    Roland Dominic G Jamora
    Department of Neurology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore 308433, Singapore
    J Neurol Sci 247:35-7. 2006
    ..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-..
  21. ncbi Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients
    T Naiya
    S N Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India
    Acta Neurol Scand 114:210-5. 2006
    Dystonia is a common movement disorder. The purpose of this study is to examine the relative distribution of the primary dystonia subtypes and identify mutation (s) in the DYT1 gene in Indian patients.
  22. pmc Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum
    Anna C Callan
    Faculty of Life Sciences, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK
    Biochem J 401:607-12. 2007
    ..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...
  23. ncbi First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population
    Mélissa Frédéric
    INSERM, U827, Montpellier, F 34000, France
    Mov Disord 22:884-8. 2007
    The c.907delGAG mutation in the TOR1A gene (also named DYT1) is the most common cause of early-onset primary dystonia...
  24. ncbi Dopamine release is impaired in a mouse model of DYT1 dystonia
    Aygul Balcioglu
    MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA
    J Neurochem 102:783-8. 2007
    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...
  25. doi The dystonia-associated protein torsinA modulates synaptic vesicle recycling
    Alessandra Granata
    Cancer Research UK London Research Institute, Lincoln s Inn Fields Laboratories, 44 Lincoln s Inn Fields, London WC2A 3PX, United Kingdom
    J Biol Chem 283:7568-79. 2008
    ..This may affect neuronal uptake of neurotransmitters, such as dopamine, playing a role in the development of dystonic movements...
  26. doi Impact of salusin-alpha and -beta on human macrophage foam cell formation and coronary atherosclerosis
    Takuya Watanabe
    Department of Biochemistry, Showa University School of Medicine, 1 5 8 Hatanodai, Shinagawa ku, Tokyo 142 8555, Japan
    Circulation 117:638-48. 2008
    ....
  27. ncbi Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report
    Agata Gajos
    Oddział Kliniczny Chorób Układu Pozapiramidowego Uniwersytetu Medycznego w Łodzi
    Neurol Neurochir Pol 41:487-94. 2007
    b>DYT1 dystonia is the most common form of inherited primary dystonia...
  28. pmc siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells
    Jeffrey W Hewett
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Hum Mol Genet 17:1436-45. 2008
    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)...
  29. ncbi DYT1 mutations amongst early onset primary dystonia patients in China
    Jing Fang Yang
    Department of Neurobiology, Key Laboratory for Neurodegenerative Disease of Ministry of Education, Xuanwu Hospital of Capital Medical University, Beijing 100053
    Chin Med Sci J 23:38-43. 2008
    To investigate the frequency of GAG deletion in the DYT1 gene among early onset primary dystonia patients in China.
  30. doi Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
    B Zirn
    Institute of Human Genetics, Schlangenzahl 14, D 35392 Giessen, Germany
    J Neurol Neurosurg Psychiatry 79:1327-30. 2008
    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.
  31. pmc The torsin-family AAA+ protein OOC-5 contains a critical disulfide adjacent to Sensor-II that couples redox state to nucleotide binding
    Li Zhu
    Department of Physiology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Mol Biol Cell 19:3599-612. 2008
    ..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...
  32. pmc LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation
    Abigail B Vander Heyden
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Biol Cell 20:2661-72. 2009
    TorsinA (TorA) is an AAA+ ATPase in the endoplasmic reticulum (ER) lumen that is mutated in early onset DYT1 dystonia...
  33. pmc Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion
    Teresa V Naismith
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 284:27866-74. 2009
    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. pmc The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response
    Pan Chen
    Department of Biological Sciences, The University of Alabama, Tuscaloosa, AL 35487, USA
    Hum Mol Genet 19:3502-15. 2010
    ..Deletion in the DYT1 gene, encoding the torsinA protein, is responsible for this dominantly inherited disorder, which is non-..
  35. doi The role of torsinA in dystonia
    A Granata
    Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, London, UK
    Eur J Neurol 17:81-7. 2010
    b>DYT1 dystonia is an autosomal-dominant movement disorder, characterised by early onset of involuntary sustained muscle contractions...
  36. pmc A unique redox-sensing sensor II motif in TorsinA plays a critical role in nucleotide and partner binding
    Li Zhu
    Department of Physiology, University of Texas Southwestern Medical Center at Dallas, Texas 75390, USA
    J Biol Chem 285:37271-80. 2010
    ..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.
  37. pmc Static retention of the lumenal monotopic membrane protein torsinA in the endoplasmic reticulum
    Abigail B Vander Heyden
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO, USA
    EMBO J 30:3217-31. 2011
    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...
  38. ncbi Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations
    Christine Klein
    Department of Neurology, Medical University of Lubeck, Lubeck, Germany
    Ann Neurol 52:675-9. 2002
    ..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...
  39. ncbi Microstructural white matter changes in carriers of the DYT1 gene mutation
    Maren Carbon
    Center for Neurosciences, North Shore Long Island Jewish Research Institute, Manhasset, NY 11030, USA
    Ann Neurol 56:283-6. 2004
    We tested the hypothesis that the DYT1 genotype is associated with a disorder of anatomical connectivity involving primarily the sensorimotor cortex...
  40. ncbi Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
    C Kamm
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tuebingen, Hoppe Seyler Str 3, 72086 Tuebingen, Germany
    Neurology 67:1857-9. 2006
    Recently, association of a TOR1A(DYT1)/TOR1B risk haplotype with common forms of idiopathic dystonia has been reported in the Icelandic population...
  41. ncbi Perinuclear biogenesis of mutant torsin-A inclusions in cultured cells infected with tetracycline-regulated herpes simplex virus type 1 amplicon vectors
    D C Bragg
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO 63110, USA
    Neuroscience 125:651-61. 2004
    ..These nuclear-associated membrane structures enriched in mutant torsinA may therefore be of greater relevance to understanding how the dystonia-related mutation compromises cellular physiology...
  42. ncbi Deep brain stimulation for dystonia in adults. Overview and developments
    Joachim K Krauss
    Department of Neurosurgery, University Hospital, Klinikum Mannheim, Mannheim, Germany
    Stereotact Funct Neurosurg 78:168-82. 2002
    ..5 years of follow-up. Dramatic improvement has been obtained in children and in adults with DYT1 positive dystonia...
  43. ncbi The syndrome of fixed dystonia: an evaluation of 103 patients
    Anette Schrag
    University Department of Clinical Neurosciences, Royal Free and University College Medical School, London NW3 2PF, UK
    Brain 127:2360-72. 2004
    ..No consistent investigational abnormalities were found and no patient tested (n = 25) had a mutation in the DYT1 gene...
  44. pmc Impaired sequence learning in dystonia mutation carriers: a genotypic effect
    Maren Carbon
    Centre for Neurosciences, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, New York 11030, USA
    Brain 134:1416-27. 2011
    Abnormalities in motor sequence learning have been observed in non-manifesting carriers of the DYT1 dystonia mutation...
  45. pmc Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
    Susan B Bressman
    Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA
    Lancet Neurol 8:441-6. 2009
    ..To assess more broadly the role of this gene, we screened for mutations in families that included one family member who had early-onset, non-focal primary dystonia...
  46. ncbi [The study and treatment of dystonias in childhood]
    S I Pascual-Pascual
    Hospital Universitario La Paz, 28046 Madrid, Espana
    Rev Neurol 43:S161-8. 2006
    ..Dystonia is after spasticity and tics the most common movement disorder in childhood. The etiology, diagnostic methods and treatment of childhood dystonia is reviewed...
  47. doi Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China
    F B Cheng
    Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, PR China
    Eur J Neurol 18:497-503. 2011
    ..DYT1 is caused by a mutation in the TOR1A gene, whilst mutations in THAP1 gene have been identified as responsible for DYT6...
  48. ncbi [Genetic dystonia]
    A Destee
    Service de Neurologie A, Hopital Roger Salengro, CHRU, Lille
    Presse Med 28:298-305. 1999
    ..LOCUS DYT-1 PRIMARY DYSTONIA: Locus DYT1, situated on chromosome 9, is responsible for the most common phenotypic expression of generalized primary dystonia,..
  49. ncbi Celiac disease: risk assessment, diagnosis, and monitoring
    Mala Setty
    Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Chicago, Chicago, Illinois, USA
    Mol Diagn Ther 12:289-98. 2008
    ..Well identified haplotypes in the human leukocyte antigen (HLA) class II region (either DQ2 [DQA*0501-DQB*0201] or DQ8 [DQA*0301-DQB1*0302]) confer a large part of the genetic susceptibility to celiac ..
  50. ncbi Silencing primary dystonia: lentiviral-mediated RNA interference therapy for DYT1 dystonia
    Pedro Gonzalez-Alegre
    Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
    J Neurosci 25:10502-9. 2005
    ..DYT1 dystonia is caused by a common three-nucleotide deletion in the TOR1A gene that eliminates a glutamic acid residue from the protein torsinA...
  51. doi [Genetics of dystonia]
    C Kamm
    Universitat Rostock, Klinik und Poliklinik fur Neurologie, Gehlsheimer Strasse 20, Rostock
    Fortschr Neurol Psychiatr 77:S32-6. 2009
    ..knowledge, is early-onset generalized DYT1 dystonia, caused by a deletion of three basepairs, GAG, in the DYT1 (TOR1A) gene...
  52. ncbi Genetic and immunological findings in patients with newly diagnosed insulin-dependent diabetes mellitus. The Swedish Childhood Diabetes Study Group and The Diabetes Incidence in Sweden Study (DISS) Group
    I Kockum
    Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    Horm Metab Res 28:344-7. 1996
    ..The frequency of the DR3-DQA1*0501-DQB1*0201 haplotype and the DR3-DQA1*0501-DQB1*0201 (DQ2)/DR4-DQA1*0301-DQB1*0302 (DQ8) genotype were higher among patients diagnosed before the age of 10 compared with ..
  53. ncbi Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
    A Zimprich
    Department of Neurology, Klinikum Grobhadern, Ludwig Maximilians University, Munich, Germany
    Nat Genet 29:66-9. 2001
    ..These are DYT1, encoding torsin A and mutant in the early-onset generalized form, GCH1 (formerly known as DYT5), encoding GTP-cyclohydrolase I and ..
  54. ncbi HLA class I (A, B) and II (DR, DQ) gene and haplotype frequencies in blood donors from Wales
    C Darke
    Regional Tissue Typing Laboratory, Welsh Blood Service, Cardiff, UK
    Exp Clin Immunogenet 15:69-83. 1998
    ..HLA-A2, B44, DR4 and DQ2 were the highest frequency phenotypes and HLA-A2403, A34, A74, B42, B75, B2708, B48, B67 and B703 occurred once ..
  55. pmc Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia
    Francesco Napolitano
    CEINGE Biotecnologie Avanzate, Naples, Italy
    Neurobiol Dis 38:434-45. 2010
    DYT1 dystonia is an inherited disease linked to mutation in the TOR1A gene encoding for the protein torsinA...
  56. pmc Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
    S Tezenas du Montcel
    Service de Biostatistique et Information Medicale, Hopital Pitie Salpetriere, AP HP, Paris, France
    J Med Genet 43:394-400. 2006
    ..Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21...
  57. ncbi Chronic stimulation of the globus pallidus internus for treatment of non-dYT1 generalized dystonia and choreoathetosis: 2-year follow up
    Joachim K Krauss
    Department of Neurology, Inselspital, University of Berne, Switzerland
    J Neurosurg 98:785-92. 2003
    ..of the posteroventral lateral globus pallidus internus up to 2 years postoperatively in patients with primary non-DYT1 generalized dystonia or choreoathetosis...
  58. ncbi Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
    Mirta Fiorio
    Department of Neurological and Vision Sciences, Section of Rehabilitative Neurology, University of Verona, Verona, Italy
    Brain 130:134-42. 2007
    DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest in only 30-40% of mutation carriers...
  59. ncbi Patterns of EMG-EMG coherence in limb dystonia
    Pascal Grosse
    Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, London, United Kingdom
    Mov Disord 19:758-69. 2004
    ..To this end, we studied 12 symptomatic and 4 asymptomatic carriers of the DYT1 gene, 6 patients with symptomatic dystonia due to focal basal ganglia lesions, and 11 patients with fixed dystonia, ..
  60. ncbi [Neurosurgical treatment in childhood dystonias and dyskinesias]
    S Gil-Robles
    Centre Hospitalo Universitaire de Montpellier, Montpellier, Francia
    Rev Neurol 43:S169-72. 2006
    ..To present the post-surgery clinical results of deep brain stimulation of the internal globus pallidus (GPi) in a group of paediatric patients with primary and secondary dystonic-dyskinetic syndrome...
  61. ncbi A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia
    P A Slominsky
    Department of Molecular Basis of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia
    Hum Mutat 14:269. 1999
    ..The DYT1 gene (Ozelius et al., 1997) encodes an ATP-binding protein torsin A. A unique 3-bp deletion (GAG) was found in the heterozygous state in almost all patients with early-onset ..
  62. doi Bilateral pallidal stimulation in children and adolescents with primary generalized dystonia--report of six patients and literature-based analysis of predictive outcomes variables
    Ingo Borggraefe
    Department of Pediatric Neurology and Developmental Medicine, Dr von Hauner s Children s Hospital, Ludwig Maximilians University, Lindwurm Street 4, 80337 Munich, Germany
    Brain Dev 32:223-8. 2010
    ..In addition, we strived to find predictors for treatment outcome by review and analysis of previously published studies...
  63. doi Behavioural and pharmacological examinations in a transgenic mouse model of early-onset torsion dystonia
    Nikola Lange
    Institute of Pharmacology and Toxicology, Department of Veterinary Medicine, Freie Universitat Berlin, Koserstr 20, 14195 Berlin, Germany
    Pharmacol Biochem Behav 97:647-55. 2011
    Early-onset torsion dystonia is an autosomal dominant movement disorder associated with the DYT1 gene (TOR1A) defect which results in a deletion of a glutamic acid residue in the protein torsinA...
  64. ncbi Reaching movements in childhood dystonia contain signal-dependent noise
    Terence D Sanger
    Department of Neurology, Division of Child Neurology and Movement Disorders, Stanford University, Stanford, CA, USA
    J Child Neurol 20:489-96. 2005
    ..the ages of 4 and 16 years with dystonia owing to either cerebral palsy, idiopathic dystonia not due to the DYT1 (torsin A) mutation, or other identified causes...
  65. ncbi Pallidal surgery for the treatment of primary generalized dystonia: long-term follow-up
    Maria G Cersosimo
    Parkinson s Disease and Movement Disorder Unit, Hospital de Clinicas, University of Buenos Aires, Argentina
    Clin Neurol Neurosurg 110:145-50. 2008
    ..To describe the results and long-term follow-up after functional surgery of the internal segment of the globus pallidus (GPi) in 10 patients with primary generalized dystonia...
  66. doi Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
    Simone Zittel
    Department of Neurology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Mov Disord 25:2405-12. 2010
    ..In contrast to DYT1 mutations, THAP1 mutations are associated with primary early-onset segmental or generalised dystonia frequently ..
  67. ncbi Human genome search in celiac disease: mutated gliadin T-cell-like epitope in two human proteins promotes T-cell activation
    Rajesh Kumar
    Department of Cell Biology, University of Virginia, Charlottesville, VA 22908 0732, USA
    J Mol Biol 319:593-602. 2002
    ..human genome identified only 11 gut-expressed proteins with high T-cell epitope homology, particularly to the DQ2-gamma-I-gliadin epitope (i.e. TFIIA, FOXJ2 and IgD; mean BestFit quality score=40 versus random value of 24)...
  68. doi Autoimmune-associated HLA-B8-DR3 haplotypes in Asian Indians are unique in C4 complement gene copy numbers and HSP-2 1267A/G
    Gurvinder Kaur
    Department of Transplant Immunology and Immunogenetics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
    Hum Immunol 69:580-7. 2008
    The classical AH8.1 (HLA-A1-B8-DR3-DQ2) is the most common Caucasian haplotype, associated with several autoimmune diseases, immunologic hyperreactivity and rapid progression to the acquired immunodeficiency syndrome...
  69. doi Human leucocyte antigen and TNFalpha polymorphism association in microscopic colitis
    Ritva M Koskela
    Department of Internal Medicine, Kanta Hame Central Hospital, University of Oulu, Oulu, Finland
    Eur J Gastroenterol Hepatol 20:276-82. 2008
    Coeliac disease (CD) is common in patients with microscopic colitis (MC). The human leucocyte antigen (HLA)-DR3-DQ2 haplotype is strongly associated with CD, and there is evidence for an association with MC...
  70. ncbi Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
    Jordi Clarimon
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    Mov Disord 22:162-6. 2007
    Primary blepharospasm is a common adult-onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia...
  71. doi Design, synthesis and evaluation of high-affinity binders for the celiac disease associated HLA-DQ2 molecule
    Varsha V Kapoerchan
    Leiden Institute of Chemistry, Gorlaeus Laboratories, Leiden, The Netherlands
    Mol Immunol 47:1091-7. 2010
    ..the present study we have analyzed the binding properties of a set of previously identified natural ligands for HLA-DQ2, the primary disease predisposing allele...
  72. ncbi Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia?
    Anna Rita Bentivoglio
    Istituto di Neurologia, Universita Cattolica, Rome, Italy
    Mov Disord 17:1058-63. 2002
    ..The DYT1 gene on chromosome 9q34 is responsible for most cases of early limb-onset PTD...
  73. pmc Spectrum of gluten-sensitive enteropathy in first-degree relatives of patients with coeliac disease: clinical relevance of lymphocytic enteritis
    M Esteve
    Department of Gastroenterology, Hospital Mutua de Terrassa, Universitat de Barcelona, Plaça Dr Robert no 5, 08221 Terrassa, Barcelona, Catalonia, Spain
    Gut 55:1739-45. 2006
    ..Serological markers of coeliac disease are of little diagnostic value in identifying these patients...
  74. ncbi TorsinB expression in the developing human brain
    E Bahn
    Department of Neuropathology, University of Goettingen, Robert Koch Strasse 40, 37073 Goettingen, Germany
    Brain Res 1116:112-9. 2006
    ..The majority of cases are caused by a 3-bp deletion (GAG) in the coding region of the DYT1 (TOR1A) gene...
  75. pmc Direct interaction between causative genes of DYT1 and DYT6 primary dystonia
    Sophie Gavarini
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA
    Ann Neurol 68:549-53. 2010
    ..b>TOR1A(DYT1) and the transcription factor THAP1(DYT6) are the only genes identified thus far for primary dystonia...
  76. ncbi [DYT1 positive generalised dystonia: a case study of two siblings]
    Benjamin Bereznai
    Orszagos Pszichiatriai es Neurologiai Intezet, Budapest
    Ideggyogy Sz 60:342-7. 2007
    ..A mutation on the DYT1 gene is responsible for the disease in more than 50% of cases with typical early-onset dystonia beginning in a limb...
  77. doi A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation
    Patric Blomstedt
    Department of Neurosurgery, University Hospital of Northern Sweden, Umea, Sweden
    Mov Disord 24:2415-9. 2009
    To evaluate pallidal DBS in a non-DYT1 form of hereditary dystonia. We present the results of pallidal DBS in a family with non-DYT1 dystonia where DYT5 to 17 was excluded. The dystonia is following an autosomal dominant pattern...
  78. doi Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion
    Patricia de Carvalho Aguiar
    Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
    Mov Disord 25:2854-7. 2010
    The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD)...
  79. ncbi Relationship of anticardiolipin antibodies and antiphospholipid syndrome to HLA-DR7 in Mexican patients with systemic lupus erythematosus (SLE)
    J Granados
    Department of Immunology and Rheumatology, , Mexico City, Mexico
    Lupus 6:57-62. 1997
    ..04, RR = 2.78); DR7 (pC = 0.005), RR = 3.42) and DQ2 (pC = 0.003, RR = 2.58) antigens...
  80. ncbi [Grading the severity of disease in patients with Puumala or Dobrava virus infections from 1995 to 2000 in Croatia]
    Ljiljana Cebalo
    Odsjek za celularnu imunologiju Odjel za istrazivanje i razvoj Imunoloski zavod Rockefellerova 10 10000 Zagreb, Hrvatska
    Acta Med Croatica 57:355-9. 2003
    ..The aim was also to determine whether the infection with Dobrava virus (DOBV) in Croatia was associated with a more severe illness than the infection with Puumala virus (PUUV)...
  81. doi Gluten intake interferes with the humoral immune response to recombinant hepatitis B vaccine in patients with celiac disease
    Eva Nemes
    Department of Pediatrics, Medical and Health Science Center, University of Debrecen, Nagyerdei krt 98, H 4032 Debrecen, Hungary
    Pediatrics 121:e1570-6. 2008
    Patients with celiac disease, who often carry human leukocyte antigen-DR3;DQ2, are prone to inadequate response to hepatitis B immunization...
  82. pmc Novel immune response to gluten in individuals with schizophrenia
    Diana Samaroo
    Department of Neurology and Neuroscience, Weill Medical College of Cornell University, New York, NY, United States
    Schizophr Res 118:248-55. 2010
    ..including antibodies to transglutaminase 2 (TG2) enzyme and deamidated gliadin peptides, as well as the HLA-DQ2 and -DQ8 MHC genes...
  83. ncbi Molecular, serological and population studies of the alleles and products of HLA-B*41
    C Darke
    Regional Tissue Typing Laboratory, Welsh Blood Service, Cardiff, UK
    Exp Clin Immunogenet 16:139-49. 1999
    ..LD analysis of three loci showed significant associations between B*4101, DR7, DQ2 and B*4101, DR11, DQ7 (DQB1*0301/0304) and between HLA-A3, B*4102, DR13; A66, B*4102, DR7; A66, B*4102, DR13; B*..
  84. ncbi Evidence of a genetic basis for the different geographic occurrences of liver/kidney microsomal antibody type 1 in hepatitis C
    Paolo Muratori
    Department of Internal Medicine, Cardioangiology, Hepatology, Policlinico Sant Orsola Malpighi, Bologna, Italy
    Dig Dis Sci 52:179-84. 2007
    ..HLA B8, DR3, DR4, DR7, DR11, DR13, DQ2, and the B8-DR3-DQ2 haplotype were determined by microlymphocytotoxicity and polymerase chain reaction in 105 ..
  85. ncbi Idiopathic nephrotic syndrome in Polish children - its variants and associations with HLA
    Aleksandra Krasowska-Kwiecień
    Department of Transplantation, Polish American Institute of Pediatrics, Jagiellonian University, 265 Wielicka St, 30 663 Cracow, Poland
    Pediatr Nephrol 21:1837-46. 2006
    ..In INS children, we observed an increased frequency of HLA-DR7, DR3/7, DQ2 and DQ8, whereas HLA-DR13, DR15, DQ5 and DQ6 were decreased...
  86. ncbi Gliadin-dependent neuromuscular and epithelial secretory responses in gluten-sensitive HLA-DQ8 transgenic mice
    E F Verdu
    Intestinal Disease Research Program, McMaster University, HSC 3N5C, Hamilton, Ontario, Canada
    Am J Physiol Gastrointest Liver Physiol 294:G217-25. 2008
    Celiac disease is a gluten intolerance caused by a T-cell response against human leukocyte antigen (HLA)-DQ2 and DQ8-bound gluten peptides. Some subjects experience gastrointestinal symptoms in the absence of villous atrophy...
  87. doi Genetic risk markers related to diabetes-associated autoantibodies in young patients with type 1 diabetes in berlin, Germany
    O Kordonouri
    Diabetes Centre for Children and Adolescents, Children s Hospital Auf der Bult, Hannover, Germany
    Exp Clin Endocrinol Diabetes 118:245-9. 2010
    ..To determine the prevalence of genetic risk markers of type 1 diabetes (T1D) in children diagnosed at a single centre in Germany and to assess their relation to diabetes-associated autoantibodies...
  88. pmc Intestinal T cell responses to gluten peptides are largely heterogeneous: implications for a peptide-based therapy in celiac disease
    Alessandra Camarca
    Institute of Food Sciences National Research Council, Avellino, Italy
    J Immunol 182:4158-66. 2009
    ..In the present study, we investigated the recognition profile of gluten immunogenic peptides in adult HLA-DQ2(+) celiac patients...
  89. ncbi Immunogenetic studies on malnutrition-modulated diabetes mellitus
    C B Sanjeevi
    Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
    Ann N Y Acad Sci 958:144-7. 2002
    ..Both IDDM and MMDM in eastern Indians are associated with DR3-DQ2 but not DR4-DQ8...
  90. ncbi Transamidation of wheat flour inhibits the response to gliadin of intestinal T cells in celiac disease
    Carmen Gianfrani
    Institute of Food Sciences, CNR, Avellino, Italy
    Gastroenterology 133:780-9. 2007
    Celiac disease is characterized by activation of HLA-DQ2/DQ8-restricted intestinal gluten-specific CD4(+) T cells. In particular, gluten becomes a better T-cell antigen following deamidation catalyzed by tissue transglutaminase...
  91. ncbi Refining the rules of gliadin T cell epitope binding to the disease-associated DQ2 molecule in celiac disease: importance of proline spacing and glutamine deamidation
    Shuo Wang Qiao
    Institute of Immunology, University of Oslo, Rikshospitalet University Hospital, Oslo, Norway
    J Immunol 175:254-61. 2005
    ..The disease is strongly associated with the HLA variant DQ2.5 (DQA1*05, DQB1*02), and intestinal gluten-reactive T cells from DQ2...
  92. pmc T cells in peripheral blood after gluten challenge in coeliac disease
    R P Anderson
    Autoimmunity and Transplantation Division, Walter and Eliza Hall Institute, c o Post Office RMH, Victoria, Australia 3050
    Gut 54:1217-23. 2005
    ..T cell clones allow identification of gluten peptides that stimulate T cells but do not quantify their contribution to the overall gluten specific T cell response in individuals with CD when exposed to gluten in vivo...
  93. pmc Lymphocytic duodenosis and the spectrum of celiac disease
    Jennifer L Vande Voort
    Department of Internal Medicine, The Mayo Medical School, 200 First Street SW, Rochester, MN 55905, USA
    Am J Gastroenterol 104:142-8. 2009
    ..We compared Class 2 HLA type, presenting symptoms, and serology in patients with LD and CD...
  94. ncbi Deep brain stimulation for dystonia: patient selection and evaluation
    Jens Volkmann
    Department of Neurology, Christian Albrechts University, Kiel, Germany
    Mov Disord 17:S112-5. 2002
    ..cohort studies have reported impressive efficacy of pallidal DBS in patients with primary dystonia, especially DYT1 mutation carriers, but results in secondary dystonia are less conclusive...
  95. ncbi [Co-existence of the congenital esophageal atresia and the potential coeliac disease in a child]
    Barbara Iwanczak
    Medical University of Wrocław, Poland 2nd Department and Clinic of Pediatrics, Gastroenterology and Nutrition
    Pol Merkur Lekarski 39:109-10. 2015
    ..presence of antibodies against tissue transglutaminase and against endomysial antibodies of smooth muscles in serum and the presence of HLA DQ2.5. In the treatment of the potential coeliac disease the girl followed a gluten-free diet.
  96. ncbi HLA-DQ6-mediated protection in IDDM
    C B Sanjeevi
    Karolinska Institute, Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Hum Immunol 61:148-53. 2000
    Insulin-dependent diabetes mellitus is positively associated with DQ8, DQ2, and DQ6 (DQB1*0604), and negatively associated with DQ6 (DQB1*0602), DQ6 (DQB1*0603), and DQ7 in Swedish caucasians...
  97. ncbi Increased frequency of HLA class II alleles DRB1*0301 and DQB1*0201 in Lambert-Eaton myasthenic syndrome without associated cancer
    K T Parsons
    Virginia Mason Research Center, Seattle, Washington, USA
    Hum Immunol 61:828-33. 2000
    ..NCA-LEMS was strongly associated with DRB1*0301 (p<0.0001) and DQB1*0201 (p<0.0001), suggesting that NCA-LEMS is an autoimmune disorder associated with the DR3-DQ2 extended haplotype.
  98. ncbi HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease
    Susan L Neuhausen
    Department of Medical Informatics, University of Utah, Salt Lake City 84108, USA
    Hum Immunol 63:502-7. 2002
    ..The primary susceptibility for CD is HLA-DQA1*05 DQB1*02 (also known as DQ2), with the remainder of cases primarily HLA-DQA1*03 DQB1*03 (also known as DQ8)...
  99. ncbi Unusual phenotypic expression of the DYT1 mutation
    Emilia Mabel Gatto
    Parkinson s Disease and Abnormal Movements Program, Institute of Neurosciences, University Hospital, University of Buenos Aires, Juramento 1155, 3 degrees A, C1428DMK, Buenos Aires, Argentina
    Parkinsonism Relat Disord 9:277-9. 2003
    Highly variable phenotype expression has long been recognized in DYT1 carrier patients...
  100. ncbi Coeliac disease: is it time for mass screening?
    M Luisa Mearin
    Pediatric Gastroenterology, Department of Pediatrics, Leiden University Medical Centre, P O Box 9600, 2300 RC Leiden, The Netherlands
    Best Pract Res Clin Gastroenterol 19:441-52. 2005
    ..HLA typing beforehand to identify the 30% of the population with DQ2 or DQ8, who are at potential risk of CD, will allow one-off exclusion of a large percentage of the population but ..
  101. ncbi Homozygosity for premature stop codon of the MHC class I chain-related gene A (MIC-A) is associated with early activation of islet autoimmunity of DR3/4-DQ2/8 high risk DAISY relatives
    Akane Ide
    Barbara Davis Center for Childhood Diabetes, University of Colorado Health Sciences Center, 1775 N Ursula Street, Aurora, Colorado, 80010, USA
    J Clin Immunol 25:303-8. 2005
    ..02) were MIC-A5.1 homozygous. By life table analysis of expression of autoantibodies, DR3-DQ2/ DR4-DQ8 more than 50% of MIC-A5...

Research Grants62

  1. Irritable bowel syndrome-diarrhea: the role of gluten intolerance and HLA-DQ2
    MICHAEL L CAMILLERI; Fiscal Year: 2010
    ..We propose to test the following: Specific hypotheses: 1. IBS-D or FD patients who are HLA-DQ2 positive have higher small intestinal and colonic permeability than HLA-DQ2 negative patients. 2...
  2. Luc Teyton; Fiscal Year: 2015
    ..These molecules share with HLA-DQ2, HLA-DR0405 and I-Ag7 a mutation at position 57 of their chain that eliminates a conserved aspartic acid and ..
  3. HLA-DQ-derived RTLs for Treatment of Celiac Disease
    GREGORY BURROWS; Fiscal Year: 2007
    ..These molecules also underwent rigorous biochemical and biophysical characterization. Recently, huCD4/DQ2 and huCD4/DQ8 transgenic mouse models of gluten sensitivity have been developed...
  4. Non-Human Primate Model of Gluten-Sensitive Enteropathy
    Karol Sestak; Fiscal Year: 2013
    ..Although several useful models have been established to study CD, including transgenic mice expressing HLA-DQ2 allele, there is no satisfactory animal model that would fulfill both genetic and pathologic criteria of this ..
  5. Analysis of TLR4-dependent Innate Immune Responses induced by Dietary Glutens
    KRISTINA MICHELLE HARRIS; Fiscal Year: 2012
    ..The major genetic risk factor in CD is inheritance of HLA class II alleles, with 95% of patients expressing HLA- DQ2 and the others HLA-DQ8...
  6. Characterization of Innate immune receptors
    Detlef Schuppan; Fiscal Year: 2009
    ..Gluten peptides that have been deamidated by the Cd autoantigen tissue transglutaminase bind strongly to HLA-DQ2 or -DQ8, the essential genetic predisposition for Cd...
  7. STRUCTURAL STUDY OF HLA-DQ2 AND AN ASSOCIATED COMPLEX
    Irimpan I Mathews; Fiscal Year: 2011
    ..This study is aimed at understanding the mechanism of HLA-DQ2 interaction with other molecules...
  8. Timing of Gluten Intake In Infant Nutrition and Risk of Celiac Disease Autoimmuni
    Alessio Fasano; Fiscal Year: 2009
    ..autoimmune diseases, the triggering environmental factor (gliadin), a close genetic association with HLA genes (DQ2 or DQ8), and a highly specific humoral autoimmune response (auto-antibodies to tissue transglutaminase) are known...
  9. A HLA Mouse Model for Gluten Sensitivity and Enteropathy
    Joseph Murray; Fiscal Year: 2009
    ..Individuals susceptible to celiac disease express either DQ2 or the DQ8 HLA class II antigen...
  10. Design and Assay of DQ2 Inhibitors for Celiac Disease
    Gary Olson; Fiscal Year: 2005
    ..In celiac disease, over 90% of patients express the DQ2 allele (DQA1*0501/DQB1*0201)...
  11. Aaron W Michels; Fiscal Year: 2016
    ..The human MHC class II molecules DQ8 and DQ2 are the major determinants of both type 1 diabetes and celiac disease with more than 99% of patients with celiac ..
  12. Bana Jabri; Fiscal Year: 2016
    ..Celiac disease is a complex intestinal inflammatory disorder with villous atrophy induced by dietary gluten in HLA-DQ2 or HLA-DQ8 individuals...
  13. Gluten Sensitivity in the Old Order Amish
    Daniel McBride; Fiscal Year: 2005
    ..The HLA-DQ2 allelic combination is found in >90% of celiac patients from northern Europe...
  14. Govindarajan Rajagopalan; Fiscal Year: 2016
    ..This will be investigated by a series of in vivo studies using transgenic mice expressing HLA-DR2, HLA-DR3, HLA-DR4, HLA-DQ2, HLA-DQ6 or HLA-DQ8 molecules.
  15. Chella S David; Fiscal Year: 2014
    ..Among all the genetic factors associated with MS susceptibility, HLA-class II haplotypes such as DR2/DQ6, DR3/DQ2, DR4/DQ8, show the strongest association...
  16. Laurie J Ozelius; Fiscal Year: 2016
    ..in GNAL, encoding G?olf, in patients with early onset torsion dystonia (EOTD) who do not harbor mutations in TOR1A or THAP1...
  17. The Role of THAP1 in Dystonia
    Mark S Ledoux; Fiscal Year: 2013
    ..Recent studies in humans and animal models strongly suggest that DYT1, DYT6 and other forms of dystonia may be neurodevelopmental disorders...
  18. Mechanisms for HLA-DQ mediated disease protection and susceptibility
    William W Kwok; Fiscal Year: 2012
    ..In particular, subjects who are heterozygous for HLA- DQA1*0301/DQB1*0302 (DQ8) and HLA-DQA1*0501/DQB1*0201 (DQ2) have the highest risk. In contrast, HLA- DQA1*0102/DQB1*0602 (DQ6) is associated with disease protection...
  19. GAD65 PEPTIDES BOUND TO IDDM-ASSOCIATED MHC PROTEINS
    JACK STROMINGER; Fiscal Year: 2003
    ..glutamic acid decarboxylase (GAD65), that are bound to the diabetes-related MHC proteins HLA-DR3, HLA-DR4, HLA-DQ2, and HLA-DQ8 and presented to T cells...
  20. Gene discovery in primary dystonia using whole exome sequencing
    Laurie J Ozelius; Fiscal Year: 2013
    ..There are eight PTD loci assigned (DYT1, 2, 4, 6, 7, 13, 17 and 21), but only two of the genes (TOR1A-DYT1 and THAP1-DYT6) have been isolated...
  21. David Eidelberg; Fiscal Year: 2014
    ..primary dystonia by examining structure-function relationships in manifesting and non-manifesting carriers of the DYT1 and DYT6 mutations...
  22. Nicole Calakos; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): The TOR1A gene encodingTorsinA protein is mutated in the most common form of inherited primary dystonia, DYT1...
  23. Pathophysiology of Dystonia
    Mahlon Delong; Fiscal Year: 2004
    ..limb-onset dystonia has been named DYT1, is due to the deletion of one of a pair of GAG triplets in the gene for torsin A located on the long arm of chromosome 9. Little is known about the function of torsin A...
  24. Molecular and Cellular Mechanisms of Primary Dystonia
    William Dauer; Fiscal Year: 2007
    ..b>DYT1 dystonia is a dominantly inherited childhood-onset form of primary dystonia caused by a single glutamic acid ..
  25. Dystonia Workshops
    Mahlon Delong; Fiscal Year: 2006
    ..mutation of this gone (DYT1) with the deletion of a single pair of GAG triplets leads to an altered gene product, torsin A. At present, the function of torsin A remains obscure but it is clearly a major basis of the pathophysiology of ..
  26. MOLECULAR ETIOLOGY OF EARLY ONSET TORSION DYSTONIA
    XANDRA OWENS BREAKEFIELD; Fiscal Year: 2013
    ..Early onset generalized dystonia (DYT1), the most severe of the hereditary dystonias, is caused by a dominant mutation in the T0R1A gene encoding torsinA...
  27. TorsinA influences GABA neuron migration and dopamine neuron development: Implic
    Pradeep G Bhide; Fiscal Year: 2010
    The long term goals of this project are to understand how torsinA, the product of the DYT1 gene, regulates neurogenesis and neuronal migration in the developing brain...
  28. TorsinA and Nuclear Envelope Function in HSV Infection
    Richard J Roller; Fiscal Year: 2013
    ..hypothesis that normal Torsin expression is required for efficient HSV infection and to test the hypothesis that Torsin A is specifically required for efficient nuclear egress of HSV. Aim 2...
  29. The Frizzled Nuclear Import Pathway in Synapse Development
    VIVIAN G BUDNIK; Fiscal Year: 2013
    ..g., laminopathies and envelopathies), HSV-type infections and dystonia, we expect our studies to open new windows for the design of therapies to treat or cure these conditions. ..
  30. Phyllis I Hanson; Fiscal Year: 2015
    ..movement disorder caused by autosomal dominant inheritance of a glutamic acid deletion in the protein torsinA (TOR1A), frequently referred to as the ?GAG or ?E mutation because of the deleted codon or amino acid...
  31. Brain TorsinA and childhood-onset Dystonia
    Pullanipally Shashidharan; Fiscal Year: 2012
    b>DYT1 dystonia is a potentially disabling hyperkinetic movement disorder characterized by sustained or repetitive involuntary muscle contractions and/or abnormal postures...
  32. DOUGLASS JANE FORBES; Fiscal Year: 2015
    ..membrane, how this then initiates an outer membrane counterpart, and potential fusases and/or mediators, such as Torsin A, mutated in human Torsin Dystonia, for creating the membrane channel...
  33. FUNCTIONAL ANALYSIS OF TORSIN A
    Phyllis I Hanson; Fiscal Year: 2011
    ..movement disorder caused by autosomal dominant inheritance of a glutamic acid deletion in the protein torsinA (TOR1A), frequently referred to as the &#61508;GAG or &#61508;E mutation because of the deleted codon or amino ..
  34. Pathophysiology of DYT1 Dystonia: Targeted Mouse Models
    Yuqing Li; Fiscal Year: 2010
    ..with reduced penetrance due to a 3-bp deletion (AGAG) that deletes a glutamic acid residue in the coding region of DYT1, which codes for torsinA protein...
  35. Generation of DYT1 dystonia-specific iPS cells with isogenic controls
    DAVID CRISTOPHER BRAGG; Fiscal Year: 2013
    ..Here we propose a strategy to develop a new human neuronal culture model of DYT1 dystonia that combines iPSCs reprogramming with gene targeting using transcription activator-like effector ..
  36. MICHAEL JAMES WHITE VANGOMPEL; Fiscal Year: 2014
    ..Mutation in the human gene that encodes TorsinA, DYT1, leads to the neuromuscular disease early onset dystonia...
  37. William T Dauer; Fiscal Year: 2016
    ..DYT1 dystonia is a neurodevelopmental disease caused by a deletion ([unreadable]gag;[unreadable]E) in the Tor1a gene encoding torsinA...
  38. Novel Genetic Mouse Model to Study the Consequences of TorsinA Dysfunction
    Nicole Calakos; Fiscal Year: 2012
    ..In a patient with sporadic, late-onset, focal dystonia, we recently identified a novel rare sequence variant of TOR1A (p.F205I). TOR1A mutation is a known cause of familial early-onset, generalized dystonia (DYT1, c.GAG)...
  39. Molecular Foundations of the Myoclonus-Dystonia Syndrome
    Mark leDoux; Fiscal Year: 2006
    ..The similarities between DYT1 and DYT11 (e.g...
  40. Structure-Based Design of HLA-DQ2 Ligands
    Chaitan Khosla; Fiscal Year: 2005
    ..Several studies have implicated a causative role for HLA-DQ2, the class II MHC allele present in >90% of Celiac Sprue patients...
  41. Identifying novel therapeutics for early onset dystonia
    DAVID BRAGG; Fiscal Year: 2009
    Early onset torsion dystonia (DYT1) is a dominantly inherited disorder causing severe motor impairment thought to be due, at least in part, to abnormal dopaminergic neurotransmission in the basal ganglia without neurodegeneration...
  42. Epidemiology of Dystonia in a Multi-Ethnic Population
    Caroline Tanner; Fiscal Year: 2009
    ..The third aim is to determine the frequency of the DYT1 mutation, associated with PTD, within groups defined by ethnicity and clinical features...
  43. TORSIN GENE FAMILY AND DYSTONIA AND MODIFYING GENES
    Laurie Ozelius; Fiscal Year: 2000
    ..Symptoms are believed to result from abnormality in the basal ganglia. The gene for this disorder, DYT1 has recently been cloned by our group and shown to contain a 3-bp deletion (GAG), removing a glutamic acid in a ..
  44. FOURTH INTERNATIONAL DYSTONIA SYMPOSIUM
    Stanley Fahn; Fiscal Year: 2001
    ..These six topics are: 1) Pathophysiology, 2) Oppenheim's (DYT1), 3) Other Genetic Dystonias (Dopa-responsive Dystonia, Myoclonus-Dystonia, Mennonite Dystonia, and X-linked ..
  45. Biochemical and genetic analysis of dystonia-Torsin
    Brett Lauring; Fiscal Year: 2006
    ..autosomal dominant disorder is caused by a mutation in a novel Endoplasmic Reticulum (ER)-Iocalized protein named Torsin A that is a member of the AAA family of ATPases...
  46. Exploring DYT1 pathogenesis: torsinA and the nuclear envelope
    Pedro Gonzalez Alegre; Fiscal Year: 2009
    ..Several genetic forms of dystonia have been described, being DYT1 the most common. I initially became specially interested and studied DYT1 dystonia during my postdoctoral training...
  47. MOLECULAR ETIOLOGY OF EARLY ONSET TORSION DYSTONIA
    Xandra Breakefield; Fiscal Year: 2007
    ..Most cases of this disease are caused by inframe deletions in the DYT1 (TORIA) gene, which encodes a novel AAA+ chaperone protein, torsinA, with three homologous family members...
  48. Expression and Characterization of Torsin A
    Gordon Rule; Fiscal Year: 2002
    ..In addition, we will also pursue biochemical characterization of TorsinA to determine its role in neurological function. ..
  49. Basal Ganglia Expression of TorsinA in Transgenic Mice
    Michelle Ehrlich; Fiscal Year: 2005
    ..Specific Aim 1 is to create transgenic mice expressing mutated human torsin A in the l) substantia nigra, under the direction of the human tyrosine hydroxylase promoter and 2) in the striatum,..
  50. Whole brain multimodal microscopy of an apoptosis reporter mouse
    PETER JEFF NICHOLLS; Fiscal Year: 2013
    ..be bred with various disease models, including dopamine transporter knockouts, microRNA-9-deficient mice, and torsin A mutants;the brains of offspring will first be submitted to high-resolution magnetic resonance and diffusion ..
  51. T Cell Epitope Mimicry for Autoimmune Responses in SLE
    Shu Man Fu; Fiscal Year: 2013
    ..potential of anti-Ro60 initiated autoimmune responses in lupus-prone NZM2328 mice transgenic for HLA-DR3 and -DQ2. The findings from this proposal will clearly demonstrate that T cell responses to lupus-associated antigens can ..
  52. Impact of MHC Genotype on Ex Vivo T cell Function in Type 1 Diabetes
    Kai W Wucherpfennig; Fiscal Year: 2012
    ..cytokine patterns and CD8 T cell cytotoxicity in response to B cell antigens in patients who carry either DR3-DQ2 (DQ2) or DR4- DQ8 (DQ8) haplotypes or the highest risk DQ2/DQ8 haplotype...
  53. IMMUNOPATHOGENESIS OF ALLERGIC ASPERGILLOSIS
    RAYMOND SLAVIN; Fiscal Year: 2003
    ..first specific aim is to determine if ABPA is associated with a combination of particular HLA-DR2, HLA-DR5 and HLA-DQ2 genotypes...
  54. DIABETES IN THE 15-34 YEAR OLD
    Ake Lernmark; Fiscal Year: 1999
    ..The preliminary results from year One and Two of follow up demonstrate the following: a) decreasing risk of DR3-DQ2 and DR4-DQ8 with increasing age at onset and decreasing protection with age of DQ6; b) increased diagnostic ..
  55. INTERNATIONAL CHROMOSOME 9 WORKSHOP
    Moyra Smith; Fiscal Year: 1992
    ..as the Friedreich's ataxia (FRDA) gene on chromosome 9q13-q21, the gene determining one form of torsion dystonia (DYT1) in the 9q32-q34 region and in the vicinity of one of the genes determining tuberous sclerosis (TSC1) in the 9q34 ..
  56. MHC LINKED SUSCEPTIBILITY TO AUTOIMMUNITY--STRUCTURE
    Don Wiley; Fiscal Year: 1999
    ..Human MHC class II genes encoding the chains of HLA-DQ8 (DQB1*0302) and DQ2 (DQB1*0201) are high risk alleles...
  57. Dominant CD4+ T Cell Regulation Causes Chronic Infection
    Grete Sonderstrup; Fiscal Year: 2004
    ..In contrast, the equally prevalent HLA-DR7, DQ2 haplotype is associated with high risk of developing chronic viral disease after infection with HCV...
  58. Analysis of Fbx2 Family of Ubiquitin Ligases
    Henry Paulson; Fiscal Year: 2007
    ..The results may also have implications for the pathogenesis of two poorly understood neurological diseases, DYT1 dystonia and familial neuroserpin dementia.
  59. RNAi FOR DOMINANT NEUROLOGICAL DISEASE
    Beverly Davidson; Fiscal Year: 2009
    ..caused by dominant mutations, including Huntington's disease (HD), familial Alzheimer's disease (AD) and DYT1 dystonia (DYT1), progress inexorably due to the toxic or dominant-negative actions of the encoded disease proteins...
  60. CLINICAL GENETIC SPECTRUM OF PRIMARY DYSTONIA
    Susan Bressman; Fiscal Year: 2003
    ..identified genes and contribute significantly to their respective phenotypes: a GAG deletion in the DYT1 gene, TOR1A, encodes torsinA, and is a common cause of early-onset Pm; different mutations in DYT 5, which encodes GTP ..
  61. Role of DYT1 Mutation in Dystonia
    Nutan Sharma; Fiscal Year: 2007
    ..The DYT1 mutation is a GAG deletion near the carboxy terminus of the protein, torsin A. At this time, the function of torsin A is unknown...
  62. International Celiac Disease Symposium
    Peter Green; Fiscal Year: 2006
    ..Funding is crucial for the success of this meeting that will reshape the future of celiac disease both in this country and around the world. [unreadable] [unreadable] [unreadable]..