Peters plus syndrome is a new congenital disorder of glycosylation and involves defective O-glycosylation of thrombospondin type 1 repeats

Journal of Biological Chemistry

Volumn 283, Issue 12, 2008, Pages 7354-7360

  Hess, Daniel ^a   Keusch, Jeremy J ^a   Lesnik Oberstein, Saskia A ^b   Hennekam, Raoul C M ^c,d   Hofsteenge, Jan ^a  

^a FRIEDRICH MIESCHER INSTITUTE FOR BIOMEDICAL RESEARCH   (Switzerland)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ESTERIFICATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; IONIC LIQUIDS; MASS SPECTROMETRY; POLYSACCHARIDES; SUGAR (SUCROSE);

CLEFT LIPS; CONGENITAL DISORDERS; DEVELOPMENTAL DELAYS; FUCOSYLATION; FUNCTIONAL TESTS; GALACTOSYLTRANSFERASE; GLUCOSYLTRANSFERASE; GLYCANS; IMMUNOPURIFICATION; REACTION MONITORING; RECESSIVE DISORDERS; REPORTER PROTEINS; SPLICE SITES; SYNTHESIS OF; THROMBOSPONDIN;

GLYCOSYLATION;

GALACTOSYLTRANSFERASE; GLUCOSYLTRANSFERASE; GLYCAN DERIVATIVE; PROPERDIN; THROMBOSPONDIN 1; THROMBOSPONDIN TYPE 1 REPEAT; UNCLASSIFIED DRUG; B3GALTL PROTEIN, HUMAN; DISACCHARIDE; POLYSACCHARIDE;

AMINO ACID SEQUENCE; ARTICLE; CARBOHYDRATE ANALYSIS; CARBOHYDRATE SYNTHESIS; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FUCOSYLATION; GENE; GENETIC CODE; GLYCOSYLATION; HETEROZYGOTE; HUMAN; MALE; MASS SPECTROMETRY; MONITORING; PETER PLUS SYNDROME; PETERS ANOMALY; PRIORITY JOURNAL; PURIFICATION; BIOSYNTHESIS; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYMOLOGY; GENETICS; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUTATION; PROTEIN MOTIF; PROTEIN PROCESSING; RNA SPLICING; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID MOTIFS; CARBOHYDRATE METABOLISM, INBORN ERRORS; DISACCHARIDES; FEMALE; GALACTOSYLTRANSFERASES; GLYCOSYLATION; HUMANS; MALE; MUTATION; POLYSACCHARIDES; PROPERDIN; PROTEIN MODIFICATION, TRANSLATIONAL; RNA SPLICE SITES; SYNDROME;

EID: 43149117914     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M710251200     Document Type: Article

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