Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy

Glycobiology

Volumn 15, Issue 11, 2005, Pages 1102-1110

  Sparks, Susan E ^a   Ciccone, Carla ^a   Lalor, Molly ^a   Orvisky, Eduard ^b   Klootwijk, Riko ^a   Savelkoul, Paul J ^a   Dalakas, Marinos C ^c   Krasnewich, Donna M ^a   Gahl, William A ^a,d   Huizing, Marjan ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b GEORGETOWN UNIVERSITY   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Cell free transcription translation; GNE; HIBM; MNK enzymes; Sialic acid

Indexed keywords

EPIMERASE; N ACETYLMANNOSAMINE KINASE; PHOSPHOTRANSFERASE; SIALIC ACID; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; ARTICLE; CARBOHYDRATE SYNTHESIS; CELL FREE SYSTEM; CONTROLLED STUDY; ENZYMATIC ASSAY; ENZYME ACTIVITY; ENZYME GLYCOSYLATION; ENZYME SPECIFICITY; ENZYME SYNTHESIS; FEMALE; FIBROBLAST CULTURE; HEREDITARY INCLUSION BODY MYOPATHY; HUMAN; HUMAN CELL; IN VITRO STUDY; MALE; MISSENSE MUTATION; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; VALIDATION PROCESS;

ADULT; CARBOHYDRATE EPIMERASES; CELL-FREE SYSTEM; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; MALE; MUTATION; MYOSITIS, INCLUSION BODY; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 27944459314     PISSN: 09596658     EISSN: 14602423     Source Type: Journal    
DOI: 10.1093/glycob/cwi100     Document Type: Article

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