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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2011-1-28
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pubmed:abstractText |
Vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases are the hallmarks of the genetic disorder spondyloenchondrodysplasia. We mapped a locus in five consanguineous families to chromosome 19p13 and identified mutations in ACP5, which encodes tartrate-resistant phosphatase (TRAP), in 14 affected individuals and showed that these mutations abolish enzyme function in the serum and cells of affected individuals. Phosphorylated osteopontin, a protein involved in bone reabsorption and in immune regulation, accumulates in serum, urine and cells cultured from TRAP-deficient individuals. Case-derived dendritic cells exhibit an altered cytokine profile and are more potent than matched control cells in stimulating allogeneic T cell proliferation in mixed lymphocyte reactions. These findings shed new light on the role of osteopontin and its regulation by TRAP in the pathogenesis of common autoimmune disorders.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1546-1718
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pubmed:author |
pubmed-author:AlanayYaseminY,
pubmed-author:BonaféLuisaL,
pubmed-author:BrosMatthiasM,
pubmed-author:De LaetCorinneC,
pubmed-author:HübnerChristian ACA,
pubmed-author:HiranoYoshikoY,
pubmed-author:JaneckeAndreasA,
pubmed-author:KissAndreaA,
pubmed-author:LauschEkkehartE,
pubmed-author:MatsuoMariM,
pubmed-author:MeineckePeterP,
pubmed-author:NishimuraGenG,
pubmed-author:RenellaRaffaeleR,
pubmed-author:RosaRafael Fabiano MachadoRF,
pubmed-author:SprangerJürgenJ,
pubmed-author:Superti-FurgaAndreaA,
pubmed-author:TenoutasseSylvieS,
pubmed-author:TrojandtStefanieS,
pubmed-author:UngerSharon LSL,
pubmed-author:UngerSheilaS,
pubmed-author:ZabelBernhardB
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pubmed:issnType |
Electronic
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pubmed:volume |
43
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
132-7
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pubmed:dateRevised |
2011-7-27
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pubmed:meshHeading |
pubmed-meshheading:21217752-Acid Phosphatase,
pubmed-meshheading:21217752-Autoimmune Diseases,
pubmed-meshheading:21217752-Autoimmunity,
pubmed-meshheading:21217752-Bone Diseases, Developmental,
pubmed-meshheading:21217752-Bone and Bones,
pubmed-meshheading:21217752-Brain,
pubmed-meshheading:21217752-Calcium,
pubmed-meshheading:21217752-Child,
pubmed-meshheading:21217752-Genetic Predisposition to Disease,
pubmed-meshheading:21217752-Homozygote,
pubmed-meshheading:21217752-Humans,
pubmed-meshheading:21217752-Isoenzymes,
pubmed-meshheading:21217752-Male,
pubmed-meshheading:21217752-Mutation,
pubmed-meshheading:21217752-Osteochondrodysplasias,
pubmed-meshheading:21217752-Osteopontin,
pubmed-meshheading:21217752-Phosphorylation
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pubmed:year |
2011
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pubmed:articleTitle |
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
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pubmed:affiliation |
Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, Freiburg, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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