In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: Towards a predictive framework for type III galactosemia

Gene

Volumn 524, Issue 2, 2013, Pages 95-104

  McCorvie, Thomas J ^a,b   Timson, David J ^a  

^a QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Bioinformatics; Conservation; Disease associated mutation; Pharmacological chaperone; Stability; Tolerance

Indexed keywords

PROTEIN VARIANT; URIDINE DIPHOSPHATE GALACTOSE; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE;

ARTICLE; BINDING AFFINITY; BIOINFORMATICS; COMPUTER MODEL; ENZYME ACTIVITY; ENZYME STABILITY; ENZYME SUBSTRATE COMPLEX; GALACTOSEMIA; GALACTOSEMIA TYPE III; HUMAN; IN VITRO STUDY; IN VIVO STUDY; MISSENSE MUTATION; PREDICTION; PRIORITY JOURNAL; PROTEIN FUNCTION; WILD TYPE;

AMINO ACID SEQUENCE; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; ENZYME ACTIVATION; ENZYME STABILITY; GALACTOSEMIAS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; PROTEIN FOLDING; PROTEIN STRUCTURE, SECONDARY; SEVERITY OF ILLNESS INDEX; SUBSTRATE SPECIFICITY; UDPGLUCOSE 4-EPIMERASE; URIDINE DIPHOSPHATE GALACTOSE; URIDINE DIPHOSPHATE N-ACETYLGLUCOSAMINE;

EID: 84878655944     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.04.061     Document Type: Article

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