Matches in UGent Biblio for { <https://biblio.ugent.be/publication/3169892#aggregation> ?p ?o. }
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- aggregation classification "A1".
- aggregation creator B676668.
- aggregation creator B676669.
- aggregation creator B676670.
- aggregation creator B676671.
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- aggregation creator B676680.
- aggregation creator person.
- aggregation creator person.
- aggregation date "2012".
- aggregation format "application/pdf".
- aggregation hasFormat 3169892.bibtex.
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- aggregation hasFormat 3169892.doc.
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- aggregation isPartOf urn:issn:0002-9297.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Medicine and Health Sciences".
- aggregation title "Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation".
- aggregation abstract "Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway. However, not all individuals with HPMRS harbor mutations in this gene. By exome sequencing, we detected compound-heterozygous mutations in PIGO, a gene coding for a membrane protein of the same molecular pathway, in two siblings with HPMRS, and we then found by Sanger sequencing further mutations in another affected individual; these mutations cosegregated in the investigated families. The mutant transcripts are aberrantly spliced, decrease the membrane stability of the protein, or impair enzyme function such that GPI-anchor synthesis is affected and the level of GPI-anchored substrates localized at the cell surface is reduced. Our data identify PIGO as the second gene associated with HPMRS and suggest that a deficiency in GPI-anchor synthesis is the underlying molecular pathomechanism of HPMRS.".
- aggregation authorList BK1039587.
- aggregation endPage "151".
- aggregation issue "1".
- aggregation startPage "146".
- aggregation volume "91".
- aggregation aggregates 3170193.
- aggregation isDescribedBy 3169892.
- aggregation similarTo j.ajhg.2012.05.004.
- aggregation similarTo LU-3169892.