Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes

Diabetes

Volumn 60, Issue 6, 2011, Pages 1813-1822

  Männikkö, Roope ^a   Flanagan, Sarah E ^b   Sim, Xiuli ^a   Segal, David ^c   Hussain, Khalid ^d   Ellard, Sian ^b   Hattersley, Andrew T ^b   Ashcroft, Frances M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

^c Centre for Diabetes and Endocrinology   (South Africa)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE MAGNESIUM; ADENOSINE TRIPHOSPHATE MAGNESIUM; GLUTAMIC ACID; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; MAGNESIUM; NUCLEOTIDE; SULFONYLUREA RECEPTOR 1;

ARTICLE; CHILD; CONTROLLED STUDY; DIABETES MELLITUS; ELECTROPHYSIOLOGY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HYPERINSULINISM; MALE; MEMBRANE STEADY POTENTIAL; METABOLIC INHIBITION; MUTANT; MUTATIONAL ANALYSIS; NEWBORN DIABETES MELLITUS; NEWBORN DISEASE; NONHUMAN; NUCLEOTIDE BINDING SITE; NUCLEOTIDE SEQUENCE; OOCYTE; POTASSIUM CURRENT; PRESCHOOL CHILD; PRIORITY JOURNAL; WILD TYPE; XENOPUS;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; DIABETES MELLITUS; ELECTROPHYSIOLOGY; GLUTAMIC ACID; HUMANS; HYPERINSULINISM; INFANT, NEWBORN; KATP CHANNELS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN STRUCTURE, TERTIARY; RATS; RECEPTORS, DRUG; XENOPUS LAEVIS;

EID: 79959484832     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db10-1583     Document Type: Article

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