A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes

EMBO Reports

Volumn 9, Issue 7, 2008, Pages 648-654

  de Wet, Heidi ^a   Proks, Peter ^a   Lafond, Mathilde ^a   Aittoniemi, Jussi ^a,b   Sansom, Mark S P ^b   Flanagan, Sarah E ^c   Pearson, Ewan R ^d   Hattersley, Andrew T ^c   Ashcroft, Frances M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c PENINSULA MEDICAL SCHOOL   (United Kingdom)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE MAGNESIUM; ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE (POTASSIUM); ADENOSINE TRIPHOSPHATE MAGNESIUM; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; MALTOSE BINDING PROTEIN; NUCLEOTIDE BINDING PROTEIN; NUCLEOTIDE BINDING PROTEIN 1; SULFONYLUREA RECEPTOR 1;

ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CONTROLLED STUDY; DIABETES MELLITUS; DYSLEXIA; ENZYME ACTIVATION; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME INACTIVATION; ENZYME INHIBITION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; INSULIN RELEASE; LEARNING DISORDER; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; PANCREAS ISLET BETA CELL; PREMATURITY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN HYDROLYSIS; SCHOOL CHILD;

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATASES; ADENOSINE TRIPHOSPHATE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARGININE; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; DIABETES MELLITUS; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; ION CHANNEL GATING; KINETICS; MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, DRUG; TRYPTOPHAN;

EID: 46449133351     PISSN: 1469221X     EISSN: 14693178     Source Type: Journal    
DOI: 10.1038/embor.2008.71     Document Type: Article

References (19)

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