Genetic defects in the hexosamine and sialic acid biosynthesis pathway

Biochimica et Biophysica Acta - General Subjects

Volumn 1860, Issue 8, 2016, Pages 1640-1654

  Willems, Anke P ^a,b   Van Engelen, Baziel G M ^a   Lefeber, Dirk J ^a,b  

^a RADBOUD UNIVERSITY   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Congenital disorders of glycosylation; GFPT1; GNE; Hexosamine biosynthesis pathway; PGM3; Sialic acid synthesis

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; CYTIDINE PHOSPHATE N ACETYLNEURAMINIC ACID; ENZYME; GLUCOSAMINE(URIDINE DIPHOSPHATE N ACETYL) 2 EPIMERASE N ACETYLMANNOSAMINE KINASE; GLUTAMINE FRUCTOSE 6 PHOSPHATE TRANSAMINASE 1; HEXOSAMINE; MEMBRANE PROTEIN; PHOSPHOGLUCOMUTASE 3; SIALIC ACID; SOLUTE CARRIER FAMILY 35 MEMBER A1; SOLUTE CARRIER FAMILY 35 MEMBER A3; SUGAR; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE; GFPT1 PROTEIN, HUMAN; GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; GLYCOPROTEIN; N ACETYLNEURAMINIC ACID; PGM3 PROTEIN, HUMAN; PHOSPHOGLUCOMUTASE;

ALTERNATIVE RNA SPLICING; ARTICLE; BIOSYNTHESIS; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL MYASTHENIC SYNDROME; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME INHIBITION; ENZYME PHOSPHORYLATION; ENZYME REGULATION; ENZYME SUBSTRATE; FEEDBACK SYSTEM; GENE MUTATION; GLUCOSE METABOLISM; HUMAN; IMMUNE DEFICIENCY; MYOPATHY; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIALYLATION; SIGNAL TRANSDUCTION; ADULT; DISORDERS OF CARBOHYDRATE METABOLISM; GENETICS; GLYCOSYLATION; METABOLISM;

ADULT; CARBOHYDRATE METABOLISM, INBORN ERRORS; GLUTAMINE-FRUCTOSE-6-PHOSPHATE TRANSAMINASE (ISOMERIZING); GLYCOPROTEINS; GLYCOSYLATION; HEXOSAMINES; HUMANS; N-ACETYLNEURAMINIC ACID; PHOSPHOGLUCOMUTASE;

EID: 84958568613     PISSN: 03044165     EISSN: 18728006     Source Type: Journal    
DOI: 10.1016/j.bbagen.2015.12.017     Document Type: Review

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