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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Torsin family 1, member A

DQ2, DYT1
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008] (from NCBI)
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Top mentioned proteins: HAD, AGE, Transglutaminase, CAN, DR3
Papers using DQ2 antibodies
A mitochondrial protein compendium elucidates complex I disease biology
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Ptáček Louis J. et al., In Human Molecular Genetics, 2007
... Abnormal motor function and dopamine neurotransmission in DYT1 DeltaGAG transgenic mice ...
Papers on DQ2
Efficacy of a Gluten-free Diet in Subjects With Irritable Bowel Syndrome-Diarrhea Unaware of Their HLA-DQ2/8 Genotype.
New
Sanders et al., Sheffield, United Kingdom. In Clin Gastroenterol Hepatol, Jan 2016
BACKGROUND & AIMS: A gluten-containing diet alters bowel barrier function in patients with irritable bowel syndrome-diarrhea (IBS-D), particularly those who are positive for human leukocyte antigen (HLA) allele DQ2/8.
Prevalence of Adult Celiac Disease in India: Regional Variations and Associations.
New
Verma et al., Vellore, India. In Am J Gastroenterol, Jan 2016
A subsample of participants was tested for HLA-DQ2/-DQ8 and underwent detailed dietary evaluation.
Coeliac screening in a Scottish cohort of children with type 1 diabetes mellitus: is DQ typing the way forward?
New
Gillett et al., Edinburgh, United Kingdom. In Arch Dis Child, Jan 2016
Recent guidelines indicate coeliac screening should include HLA typing for CD predisposing (DQ2/DQ8) alleles and those negative for these alleles require no further coeliac screening.
Discovery of a Selective Islet Peptidome Presented by the Highest-Risk HLA-DQ8trans Molecule.
New
Roep et al., Leiden, Netherlands. In Diabetes, Jan 2016
UNASSIGNED: HLA-DQ2/8 heterozygous individuals are at far greater risk for type 1 diabetes (T1D) development by expressing HLA-DQ8trans on antigen-presenting cells compared to HLA-DQ2 or DQ8 homozygous individuals.
The likelihood ratio and frequency of DQ2/DQ8 haplotypes in Iranian patients with celiac disease.
New
Kalantari et al., Tehrān, Iran. In Gastroenterol Hepatol Bed Bench, Dec 2015
AIM: The aim of this study was to evaluate the likelihood ratio and frequency of DQ2 and DQ8 in Iranian patients with celiac disease (CD).
Prediction and prevention of type 1 diabetes: update on success of prediction and struggles at prevention.
Review
New
Pietropaolo et al., Aurora, United States. In Pediatr Diabetes, Nov 2015
Risk of T1DM progression is conferred by specific HLA DR/DQ alleles [e.g., DRB1*03-DQB1*0201 (DR3/DQ2) or DRB1*04-DQB1*0302 (DR4/DQ8)].
Genetic mutations strengthen functional association of LAP1 with DYT1 dystonia and muscular dystrophy.
Review
New
da Cruz E Silva et al., Aveiro, Portugal. In Mutat Res Rev Mutat Res, Oct 2015
It interacts physically with lamins, torsinA, emerin and protein phosphatase 1; potentially providing a pivotal mechanism for transducing signals across the inner nuclear membrane.
Non-motor symptoms in genetically defined dystonia: Homogenous groups require systematic assessment.
Review
New
Tijssen et al., Groningen, Netherlands. In Parkinsonism Relat Disord, Sep 2015
Sensory testing in DYT1 cases identified an intermediate subclinical phenotype.
Recent insight in the pathophysiology of coeliac disease: relevance to rheumatoid arthritis.
Review
New
Koning, Leiden, Netherlands. In Clin Exp Rheumatol, Jul 2015
CD4(+) T cells specific for post-translationally modified gluten peptides bound to the disease-predisposing HLA-DQ2 or HLADQ8 molecules are typically found in patients with CD, explaining the strong association between these HLA-alleles and the occurrence of CD (1, 2).
[Nozological Heterogeneity, Molecular Genetics and Immunology of Autoimmune Diabetes Mellitus].
Review
Nikonova et al., In Vestn Ross Akad Med Nauk, 2014
In case of T1DM more than 80% of patients are carriers of one or two strongest predisposing haplotypes: DRB1*04-DQA1*0301-DQB1*0302 and DRB1*03-DQA1*0501-DQB1*0201 designated as DQ2 and DQ8.
Randomized feeding intervention in infants at high risk for celiac disease.
Impact
Mearin et al., Aş Şanamayn, Syria. In N Engl J Med, 2014
METHODS: We performed a multicenter, randomized, double-blind, placebo-controlled dietary-intervention study involving 944 children who were positive for HLA-DQ2 or HLA-DQ8 and had at least one first-degree relative with celiac disease.
Risk of pediatric celiac disease according to HLA haplotype and country.
Impact
TEDDY Study Group et al., Sierra Leone. In N Engl J Med, 2014
BACKGROUND: The presence of HLA haplotype DR3-DQ2 or DR4-DQ8 is associated with an increased risk of celiac disease.
Mutations in GNAL cause primary torsion dystonia.
Impact
Ozelius et al., New York City, United States. In Nat Genet, 2013
Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and CIZ1 (ref.
Biased T cell receptor usage directed against human leukocyte antigen DQ8-restricted gliadin peptides is associated with celiac disease.
Impact
Rossjohn et al., Australia. In Immunity, 2012
Celiac disease is a human leukocyte antigen (HLA)-DQ2- and/or DQ8-associated T cell-mediated disorder that is induced by dietary gluten.
Cholinergic dysfunction alters synaptic integration between thalamostriatal and corticostriatal inputs in DYT1 dystonia.
GeneRIF
Pisani et al., Roma, Italy. In J Neurosci, 2012
In transgenic mice with DYT1 dystonia mutation stimulation of thalamostriatal axons triggered abnormal spiking activity in interneurons.
Phenotypic differences in Dyt1 between ethnic groups.
GeneRIF
Jeon et al., Seoul, South Korea. In Curr Neurol Neurosci Rep, 2012
variable clinical manifestation in different ethnic groups may suggest that ethnicity is a significant modifier of DYT1 dystonia
Celiac disease: an immunological jigsaw.
Review
Impact
Cerf-Bensussan et al., Paris, France. In Immunity, 2012
The keystone of CD pathogenesis is an adaptive immune response orchestrated by the interplay between gluten and MHC class II HLA-DQ2 and DQ8 molecules.
Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort.
GeneRIF
Shang et al., Chengdu, China. In Eur J Neurol, 2012
This study do not confirm that the allele contributes to the risk of D216H SNP primary dystonia.
The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystonia.
GeneRIF
Lohmann et al., In Parkinsonism Relat Disord, 2012
The data of this study showed that the The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystonia.
Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias.
GeneRIF
Mellick et al., Brisbane, Australia. In Parkinsonism Relat Disord, 2012
The results of this study did not support the hypothesis that common TOR1A variants affect susceptibility for sporadic primary dystonia.
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