Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic KATP channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits

Channels

Volumn 6, Issue 2, 2012, Pages 133-138

  Lin, Yu Wen ^a   Akrouh, Alejandro ^a   Hsu, YeouChing ^b   Hughes, Nkecha ^b   Nichols, Colin G ^a   De León, Diva D ^b,c  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

ABCC8; ATP; Compound heterozygous mutations; Neonatal diabetes; Sulfonylureas; SUR1

Indexed keywords

ADENOSINE TRIPHOSPHATE; BICARBONATE; C PEPTIDE; DNA; GLIBENCLAMIDE; GLUCOSE; HEMOGLOBIN A1C; INSULIN; INSULIN ASPART; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; ISOPHANE INSULIN; SULFONYLUREA RECEPTOR 1; ABC TRANSPORTER; ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; DRUG RECEPTOR; INWARDLY RECTIFYING POTASSIUM CHANNEL; SULFONYLUREA DERIVATIVE; SULFONYLUREA RECEPTOR;

ARTICLE; BICARBONATE BLOOD LEVEL; BREATHING DISORDER; CASE REPORT; CHILD HOSPITALIZATION; DEHYDRATION; DIABETIC KETOACIDOSIS; DIABETOGENESIS; DNA SEQUENCE; DRUG DOSE INCREASE; DRUG WITHDRAWAL; FAMILY HISTORY; FEVER; FLUID RESUSCITATION; GENE MUTATION; GLUCOSE BLOOD LEVEL; GLYCEMIC CONTROL; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOSITY; HUMAN; INFANT; INSULIN TREATMENT; IRRITABILITY; KUSSMAUL BREATHING; MALE; NEWBORN DIABETES MELLITUS; PAKISTAN; PH; PROTEIN BLOOD LEVEL; ANIMAL; CELL STRAIN COS1; CERCOPITHECUS; GENETICS; HETEROZYGOTE; METABOLISM; MUTATION; PATCH CLAMP; PROTEIN MULTIMERIZATION;

ADENOSINE TRIPHOSPHATE; ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; CERCOPITHECUS AETHIOPS; COS CELLS; DIABETIC KETOACIDOSIS; HETEROZYGOTE; HUMANS; INFANT; KATP CHANNELS; MALE; MUTATION; PATCH-CLAMP TECHNIQUES; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN MULTIMERIZATION; RECEPTORS, DRUG; SULFONYLUREA COMPOUNDS;

EID: 84861651045     PISSN: 19336950     EISSN: 19336969     Source Type: Journal    
DOI: 10.4161/chan.19980     Document Type: Article

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