Deficiency of UDP-GlcNac:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij

Human Mutation

Volumn 22, Issue 2, 2003, Pages 144-150

  Wu, Xiaohua ^a   Rush, Jeffrey S ^b   Karaoglu, Denise ^c,f   Krasnewich, Donna ^d   Lubinsky, Mark S ^e   Waechter, Charles J ^b   Gilmore, Reid ^c   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b UNIVERSITY OF KENTUCKY   (United States)

^c UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^e CHILDREN S HOSPITAL OF WISCONSIN   (United States)

^f ABBOTT LABORATORIES   (United States)

Author keywords

CDG; Developmental delay; DPAGT1; Glycosylation; GPT1; Hypotonia

Indexed keywords

CYSTEINE; DOLICHOL PHOSPHATE; GLYCOSIDASE; HYDROLASE; N ACETYLGLUCOSAMINE 1 PHOSPHATE TRANSFERASE; OLIGOSACCHARYLTRANSFERASE; TYROSINE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL LABELING; CHO CELL; CLINICAL FEATURE; CONGENITAL DISORDER; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DIVERGENT STRABISMUS; DOLICHOL PHOSPHATE N ACETYLGLUCOSAMINE 1 PHOSPHATE TRANSFERASE GENE; ENZYMATIC ASSAY; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; ESSENTIAL GENE; EXON; FEMALE; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; INFANT; INTRACTABLE EPILEPSY; MENTAL DEFICIENCY; MICROCEPHALY; MUCOLIPIDOSIS TYPE 2; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; CARBOHYDRATE METABOLISM, INBORN ERRORS; CELL LINE; CELLS, CULTURED; CHILD; CHO CELLS; CRICETINAE; FEMALE; FIBROBLASTS; FUNGAL PROTEINS; GLYCOSYLATION; HELMINTH PROTEINS; HEXOSYLTRANSFERASES; HUMANS; LIPOPOLYSACCHARIDES; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 0041591139     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10239     Document Type: Article

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