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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 |
2007-1-18
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pubmed:abstractText |
Two hyperphosphatemic patients with mutations in GALNT3 showed low intact FGF23 levels with marked increase of processed C-terminal fragments. FGF23 protein has three O-linked glycans and FGF23 with incomplete glycosylation is susceptible to processing. Silencing GALNT3 resulted in enhanced processing of FGF23. Decreased function of FGF23 by enhanced processing is the cause of hyperphosphatemia in patients with GALNT3 mutation.
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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 |
0884-0431
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pubmed:author |
pubmed-author:ArayaKaoriK,
pubmed-author:Becker-CohenRachelR,
pubmed-author:FeinsteinSofiaS,
pubmed-author:FrishbergYaacovY,
pubmed-author:FujitaToshiroT,
pubmed-author:FukumotoSeijiS,
pubmed-author:IgarashiTakashiT,
pubmed-author:ItoNobuakiN,
pubmed-author:Navon-ElkanPaulinaP,
pubmed-author:RinatChoniC,
pubmed-author:UrakawaItaruI,
pubmed-author:YamashitaTakeyoshiT,
pubmed-author:YamazakiYujiY
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pubmed:issnType |
Print
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
235-42
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pubmed:dateRevised |
2007-10-27
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pubmed:meshHeading |
pubmed-meshheading:17129170-Amino Acid Sequence,
pubmed-meshheading:17129170-Blotting, Western,
pubmed-meshheading:17129170-Enzyme-Linked Immunosorbent Assay,
pubmed-meshheading:17129170-Fibroblast Growth Factors,
pubmed-meshheading:17129170-Glycosylation,
pubmed-meshheading:17129170-Humans,
pubmed-meshheading:17129170-Hyperostosis,
pubmed-meshheading:17129170-Molecular Sequence Data,
pubmed-meshheading:17129170-N-Acetylgalactosaminyltransferases,
pubmed-meshheading:17129170-Neoplasm Proteins,
pubmed-meshheading:17129170-Peptide Mapping,
pubmed-meshheading:17129170-Phosphates,
pubmed-meshheading:17129170-RNA, Small Interfering,
pubmed-meshheading:17129170-Spectrometry, Mass, Matrix-Assisted Laser...,
pubmed-meshheading:17129170-Syndrome
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pubmed:year |
2007
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pubmed:articleTitle |
Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23.
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pubmed:affiliation |
Shaare Zedek Medical Center, Jerusalem, Israel.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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