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dc.contributor.authorWang, Donghai
dc.contributor.authorHoing, Susanne
dc.contributor.authorPatterson, Heide Christine
dc.contributor.authorAhmad, Umtul M.
dc.contributor.authorRathinam, Vijay A. K.
dc.contributor.authorRajewsky, Klaus
dc.contributor.authorFitzgerald, Katherine A.
dc.contributor.authorGolenbock, Douglas T.
dc.date2022-08-11T08:08:25.000
dc.date.accessioned2022-08-23T15:54:47Z
dc.date.available2022-08-23T15:54:47Z
dc.date.issued2013-02-15
dc.date.submitted2013-07-09
dc.identifier.citationJ Biol Chem. 2013 Feb 15;288(7):4594-601. doi: 10.1074/jbc.M112.443077. <a href="http://dx.doi.org/10.1074/jbc.M112.443077" target="_blank">Link to article on publisher's site</a>
dc.identifier.issn0021-9258 (Linking)
dc.identifier.doi10.1074/jbc.M112.443077
dc.identifier.pmid23293022
dc.identifier.urihttp://hdl.handle.net/20.500.14038/29622
dc.description.abstractPyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome (PAPA syndrome) is an autoinflammatory disease caused by aberrant production of the proinflammatory cytokine interleukin-1. Mutations in the gene encoding proline serine threonine phosphatase-interacting protein-1 (PSTPIP1) have been linked to PAPA syndrome. PSTPIP1 is an adaptor protein that interacts with PYRIN, the protein encoded by the Mediterranean Fever (MEFV) gene whose mutations cause Familial Mediterranean Fever (FMF). However, the pathophysiological function of PSTPIP1 remains to be elucidated. We have generated mouse strains that either are PSTPIP1 deficient or ectopically express mutant PSTPIP1. Results from analyzing these mice suggested that PSTPIP1 is not an essential regulator of the Nlrp3, Aim2, or Nlrc4 inflammasomes. Although common features of human PAPA syndrome such as pyogenic arthritis and skin inflammation were not recapitulated in the mouse model, ectopic expression of the mutant but not the wild type PSTPIP1 in mice lead to partial embryonic lethality, growth retardation, and elevated level of circulating proinflammatory cytokines.
dc.language.isoen_US
dc.relation<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=23293022&dopt=Abstract">Link to Article in PubMed</a>
dc.relation.urlhttp://dx.doi.org/10.1074/jbc.M112.443077
dc.subjectAcne Vulgaris
dc.subjectAdaptor Proteins, Signal Transducing
dc.subjectAlleles
dc.subjectAnimals
dc.subjectArthritis, Infectious
dc.subjectAutoimmune Diseases
dc.subjectCaspase 1
dc.subjectCytokines
dc.subjectCytoskeletal Proteins
dc.subjectGene Expression Regulation
dc.subjectHumans
dc.subjectImmunity, Innate
dc.subjectInflammation
dc.subjectInterleukin-1beta
dc.subjectMice
dc.subjectMice, Inbred C57BL
dc.subjectMice, Knockout
dc.subject*Mutation
dc.subjectPhenotype
dc.subjectPyoderma Gangrenosum
dc.subjectSignal Transduction
dc.subjectSyndrome
dc.subjectTurpentine
dc.subjectBiochemistry
dc.subjectImmunology and Infectious Disease
dc.titleInflammation in mice ectopically expressing human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T mutant proteins
dc.typeJournal Article
dc.source.journaltitleThe Journal of biological chemistry
dc.source.volume288
dc.source.issue7
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/faculty_pubs/184
dc.identifier.contextkey4297394
html.description.abstract<p>Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome (PAPA syndrome) is an autoinflammatory disease caused by aberrant production of the proinflammatory cytokine interleukin-1. Mutations in the gene encoding proline serine threonine phosphatase-interacting protein-1 (PSTPIP1) have been linked to PAPA syndrome. PSTPIP1 is an adaptor protein that interacts with PYRIN, the protein encoded by the Mediterranean Fever (MEFV) gene whose mutations cause Familial Mediterranean Fever (FMF). However, the pathophysiological function of PSTPIP1 remains to be elucidated. We have generated mouse strains that either are PSTPIP1 deficient or ectopically express mutant PSTPIP1. Results from analyzing these mice suggested that PSTPIP1 is not an essential regulator of the Nlrp3, Aim2, or Nlrc4 inflammasomes. Although common features of human PAPA syndrome such as pyogenic arthritis and skin inflammation were not recapitulated in the mouse model, ectopic expression of the mutant but not the wild type PSTPIP1 in mice lead to partial embryonic lethality, growth retardation, and elevated level of circulating proinflammatory cytokines.</p>
dc.identifier.submissionpathfaculty_pubs/184
dc.contributor.departmentDepartment of Medicine, Division of Infectious Diseases and Immunology
dc.source.pages4594-601


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