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Mutations in NALP12 cause hereditary periodic fever syndromes

DC Field Value Language
dc.contributor.author유제욱-
dc.date.accessioned2015-05-19T17:42:07Z-
dc.date.available2015-05-19T17:42:07Z-
dc.date.issued2008-
dc.identifier.issn0027-8424-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/108651-
dc.description.abstractNALP proteins, also known as NLRPs, belong to the CATERPILLER protein family involved, like Toll-like receptors, in the recognition of microbial molecules and the subsequent activation of inflammatory and immune responses. Current advances in the function of NALPs support the recently proposed model of a disease continuum bridging autoimmune and autoinflammatory disorders. Among these diseases, hereditary periodic fevers (HPFs) are Mendelian disorders associated with sequence variations in very few genes; these variations are mostly missense mutations whose deleterious effect, which is particularly difficult to assess, is often questionable. The growing number of identified sporadic cases of periodic fever syndrome, together with the lack of discriminatory clinical criteria, has greatly hampered the identification of new disease-causing genes, a step that is, however, essential for appropriate management of these disorders. Using a candidate gene approach, we identified nonambiguous mutations in NALP12 (i.e., nonsense and splice site) in two families with periodic fever syndromes. As shown by means of functional studies, these two NALP12 mutations have a deleterious effect on NF-kappaB signaling. Overall, these data identify a group of HPFs defined by molecular defects in NALP12, opening up new ways to manage these disorders. The identification of these first NALP12 mutations in patients with autoinflammatory disorder also clearly demonstrates the crucial role of NALP12 in inflammatory signaling pathways, thereby assigning a precise function to this particular member of an emerging family of proteins whose putative biological properties are currently inferred essentially through in vitro means.-
dc.description.statementOfResponsibilityopen-
dc.format.extent1614~1619-
dc.relation.isPartOfPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAmino Acid Sequence-
dc.subject.MESHBase Sequence-
dc.subject.MESHChild-
dc.subject.MESHCodon, Nonsense/genetics-
dc.subject.MESHFamilial Mediterranean Fever/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHHumans-
dc.subject.MESHIntracellular Signaling Peptides and Proteins/genetics*-
dc.subject.MESHIntracellular Signaling Peptides and Proteins/physiology-
dc.subject.MESHMale-
dc.subject.MESHMolecular Sequence Data-
dc.subject.MESHMutation-
dc.subject.MESHNF-kappa B/metabolism-
dc.subject.MESHPedigree-
dc.subject.MESHRNA Splice Sites-
dc.subject.MESHRNA Splicing/genetics-
dc.subject.MESHSequence Analysis, DNA-
dc.titleMutations in NALP12 cause hereditary periodic fever syndromes-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Microbiology (미생물학)-
dc.contributor.googleauthorI. Jéru-
dc.contributor.googleauthorP. Duquesnoy-
dc.contributor.googleauthorT. Fernandes-Alnemri-
dc.contributor.googleauthorE. Cochet-
dc.contributor.googleauthorJ. W. Yu-
dc.contributor.googleauthorM. Lackmy-Port-Lis-
dc.contributor.googleauthorE. Grimprel-
dc.contributor.googleauthorJ. Landman-Parker-
dc.contributor.googleauthorV. Hentgen-
dc.contributor.googleauthorS. Marlin-
dc.contributor.googleauthorK. McElreavey-
dc.contributor.googleauthorT. Sarkisian-
dc.contributor.googleauthorG. Grateau-
dc.contributor.googleauthorE. S. Alnemri-
dc.contributor.googleauthorS. Amselem-
dc.identifier.doi10.1073/pnas.0708616105-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA02508-
dc.relation.journalcodeJ02550-
dc.identifier.eissn1091-6490-
dc.identifier.pmid18230725-
dc.subject.keywordgenetics-
dc.subject.keywordMendelian disorder-
dc.subject.keywordNLRP-
dc.subject.keywordautoinflammatory disorder-
dc.subject.keywordCATERPILLER-
dc.contributor.alternativeNameYu, Je Wook-
dc.contributor.affiliatedAuthorYu, Je Wook-
dc.rights.accessRightsfree-
dc.citation.volume105-
dc.citation.number5-
dc.citation.startPage1614-
dc.citation.endPage1619-
dc.identifier.bibliographicCitationPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, Vol.105(5) : 1614-1619, 2008-
dc.identifier.rimsid37156-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Microbiology (미생물학교실) > 1. Journal Papers

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