grant
Functional Significance of Mutations in Helicase Genes in Patients with Juvenile Dermatomyositis and anti-MDA5 Autoantibodies
Organization NATIONAL INSTITUTE ON AGINGLocation UNITED STATES
NIHUS FederalResearch GrantFY20250-11 years oldATP phosphohydrolaseATPaseAdenosine TriphosphataseAgingArginineAutoantibodiesAutoimmune DiseasesCausalityCellular translocationChildChild YouthChildren (0-21)CollaborationsCutaneous DisorderCytoplasmDNA Damage RepairDNA HelicasesDNA RepairDNA Unwinding ProteinsDNA mutationDNA unwinding enzymeDermatosesDevelopmentDiseaseDisorderDouble-Stranded RNAEtiologyGenesGenetic ChangeGenetic defectGenetic mutationHelicase GeneIFN activationImpairmentIn VitroInflammationInflammatory Muscle DiseasesInflammatory MyopathyInterferon ActivationJuvenile DermatomyositisL-ArginineLung DiseasesMutateMutationMyositisNIAIDNIEHSNational Institute of Allergy and Infectious DiseaseNational Institute of Environmental Health SciencesNucleic AcidsOxidative Stress InductionPathogenicityPathway interactionsPatientsProteinsPulmonary DiseasesPulmonary DisorderResearchRoleSkin DiseasesSkin Diseases and ManifestationsSystemic diseaseUnscheduled DNA SynthesisViralWorkautoimmune antibodyautoimmune conditionautoimmune disorderautoimmunity diseaseautoreactive antibodycausationcell typecutaneous diseasedermal diseasedermal disorderdevelopmentaldisease causationdisease of the lungdisorder of the lungdsRNAgenome mutationhelicasekidslung disordermutantpathwayprotein functionresponseself reactive antibodyskin disordersocial rolesystemic autoimmune diseasesystemic autoimmune disorderyoungster
Description preview
Recent research conducted at NIEHS, in collaboration with NIAID, indicates mutations in three genes, two encoding helicase-like proteins (CHD3, DHX37) and one encoding a helicase-interacting ATPase protein (WRNIP1 or WHIP), with anti-MDA5 autoantibody (Ab)-positive Juvenile Dermatomyositis (JDM). Abs to MDA5, a cytoplasmic dsRNA helicase, define…
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