Matches in SemOpenAlex for { <https://semopenalex.org/work/W95598518> ?p ?o ?g. }
- W95598518 endingPage "67" @default.
- W95598518 startingPage "55" @default.
- W95598518 abstract "Based on our preliminary observation of abnormal glycosylation in a cutis laxa patient, nine cutis laxa patients were analyzed for congenital defects of glycosylation (CDG). Isoelectric focusing of plasma transferrin and apolipoproteinC-III showed that three out of nine patients had a defect in the biosynthesis of N-glycans and core 1 mucin type O-glycans, respectively. Mass spectrometric N-glycan analyses revealed a relative increase of glycans lacking sialic acid and glycans lacking sialic acid and galactose residues. Mutation analysis of the fibulin-5 gene (FBLN5), which has been reported in cases of autosomal recessive cutis laxa, revealed no mutations in the patients' DNA. Evidence is presented that extracellular matrix (ECM) proteins of skin are likely to be highly glycosylated with N- and/or mucin type O-glycans by using algorithms for predicting glycosylation. The conclusions in this study were that the clinical phenotype of autosomal recessive cutis laxa seen in three patients is not caused by mutations in the FBLN5 gene. Our findings define a novel form of CDG with cutis laxa and neurological involvement due to a defect in the sialylation and/or galactosylation of N- and O-glycans. Improper glycosylation of ECM proteins of skin may form the pathophysiological basis for the cutis laxa phenotype." @default.
- W95598518 created "2016-06-24" @default.
- W95598518 creator A5012883316 @default.
- W95598518 date "1997-01-01" @default.
- W95598518 modified "2023-10-16" @default.
- W95598518 title "Carbohydrate units of nervous tissue glycoproteins" @default.
- W95598518 cites W1163651440 @default.
- W95598518 cites W1198076339 @default.
- W95598518 cites W1487427036 @default.
- W95598518 cites W1502661652 @default.
- W95598518 cites W1506640894 @default.
- W95598518 cites W1507147440 @default.
- W95598518 cites W1516087394 @default.
- W95598518 cites W1516232599 @default.
- W95598518 cites W1532606334 @default.
- W95598518 cites W1545524676 @default.
- W95598518 cites W1546678946 @default.
- W95598518 cites W1604424618 @default.
- W95598518 cites W1604742230 @default.
- W95598518 cites W1632209234 @default.
- W95598518 cites W1655054723 @default.
- W95598518 cites W1659505154 @default.
- W95598518 cites W1823281620 @default.
- W95598518 cites W1840072061 @default.
- W95598518 cites W1842089729 @default.
- W95598518 cites W1868713012 @default.
- W95598518 cites W1915391240 @default.
- W95598518 cites W1951551989 @default.
- W95598518 cites W1966538134 @default.
- W95598518 cites W1967327869 @default.
- W95598518 cites W1967465380 @default.
- W95598518 cites W1970181764 @default.
- W95598518 cites W1975149550 @default.
- W95598518 cites W1976166908 @default.
- W95598518 cites W1991844560 @default.
- W95598518 cites W1994267721 @default.
- W95598518 cites W1997153506 @default.
- W95598518 cites W2000648016 @default.
- W95598518 cites W2001782983 @default.
- W95598518 cites W2006147388 @default.
- W95598518 cites W2006355606 @default.
- W95598518 cites W2007610153 @default.
- W95598518 cites W2008344367 @default.
- W95598518 cites W2011586401 @default.
- W95598518 cites W2013166956 @default.
- W95598518 cites W2023467928 @default.
- W95598518 cites W2029988915 @default.
- W95598518 cites W2035034482 @default.
- W95598518 cites W2046378363 @default.
- W95598518 cites W2052382514 @default.
- W95598518 cites W2055845969 @default.
- W95598518 cites W2066175542 @default.
- W95598518 cites W2068690566 @default.
- W95598518 cites W2069767991 @default.
- W95598518 cites W2070100963 @default.
- W95598518 cites W2071870745 @default.
- W95598518 cites W2072919023 @default.
- W95598518 cites W2084054979 @default.
- W95598518 cites W2090399154 @default.
- W95598518 cites W2141638142 @default.
- W95598518 cites W2166086027 @default.
- W95598518 cites W2179103187 @default.
- W95598518 cites W2179543029 @default.
- W95598518 cites W2324611980 @default.
- W95598518 cites W4229593362 @default.
- W95598518 cites W934245563 @default.
- W95598518 cites W1986061992 @default.
- W95598518 doi "https://doi.org/10.1016/s0167-7306(08)60616-x" @default.
- W95598518 hasPublicationYear "1997" @default.
- W95598518 type Work @default.
- W95598518 sameAs 95598518 @default.
- W95598518 citedByCount "3" @default.
- W95598518 crossrefType "book-chapter" @default.
- W95598518 hasAuthorship W95598518A5012883316 @default.
- W95598518 hasConcept C108625454 @default.
- W95598518 hasConcept C153911025 @default.
- W95598518 hasConcept C179264091 @default.
- W95598518 hasConcept C206212055 @default.
- W95598518 hasConcept C2777313579 @default.
- W95598518 hasConcept C2778745941 @default.
- W95598518 hasConcept C2780115458 @default.
- W95598518 hasConcept C54355233 @default.
- W95598518 hasConcept C55493867 @default.
- W95598518 hasConcept C86803240 @default.
- W95598518 hasConceptScore W95598518C108625454 @default.
- W95598518 hasConceptScore W95598518C153911025 @default.
- W95598518 hasConceptScore W95598518C179264091 @default.
- W95598518 hasConceptScore W95598518C206212055 @default.
- W95598518 hasConceptScore W95598518C2777313579 @default.
- W95598518 hasConceptScore W95598518C2778745941 @default.
- W95598518 hasConceptScore W95598518C2780115458 @default.
- W95598518 hasConceptScore W95598518C54355233 @default.
- W95598518 hasConceptScore W95598518C55493867 @default.
- W95598518 hasConceptScore W95598518C86803240 @default.
- W95598518 hasLocation W955985181 @default.
- W95598518 hasOpenAccess W95598518 @default.
- W95598518 hasPrimaryLocation W955985181 @default.
- W95598518 hasRelatedWork W1555877029 @default.