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This study identifies four ABCC8 tag SNPs associated with cerebral oedema and/or outcome in traumatic brain injury, tagging a region including 33 polymorphisms. In polymorphisms predictive of oedema, variant alleles/genotypes confer increased risk.
Novel and rare missense variants in ABCC8 are associated with pulmonary arterial hypertension. Identified ABCC8 mutations decreased ATP-sensitive potassium channel function, which was pharmacologically recovered.
allelic polymorphisms Ile337Val and Glu23Lys of the KCNJ11 gene and Ser1369Ala of the ABCC8 gene may act as a risk factor in Ukranian patients with heart failure
A novel heterozygous missense variant in ABCC8 was associated with maturity onset diabetes of the young.
ATP binding to SUR1 biases KATP channels toward open states
This can be seen with dramatic impact on clinical care, in patients with genetic forms of diabetes such as Maturity Onset Diabetes of the Young caused by HNF1A mutations, and Neonatal diabetes due to activating mutations in ABCC8 or KCNJ11
Study revealed possible association of ABCC8 C49620T polymorphism with type 2 diabetes (T2D) marked by predominance of the mutant T allele and TT genotype in T2D patients.
SUR1 is a putative therapeutic target to reduce neuroinflammation in adult and pediatric brain
Pancreatic differentiation of ABCC8-deficient cells recapitulated the congenital hyperinsulinism disease phenotype.
HNF1A and ABCC8 are among the most frequently mutated maturity-onset diabetes of the young genes in south India.
A lasso extension forms an interface between SUR1 and Kir6.2 adjacent to the ATP site in the propeller form and is disrupted in the quatrefoil form. These structures support the role of SUR1 as an ADP sensor and highlight the lasso extension as a key regulatory element in ADP's ability to override ATP inhibition.
Combination of heterozygous mutations in the ABCC8 and KCNJ11 genes could also lead to beta cells dysfunction presenting as congenital hyperinsulinism.
genetic association studies in pediatric population in Japan: Data confirm that mutations in KCNJ11 or ABCC8 are associated with neonatal diabetes mellitus. Novel mutations were identified; 2 in KCNJ11 (V64M, R201G) and 6 in ABCC8 (R216C, G832C, F1176L, A1263V, I196N, T229N). (KCNJ11 = ATP-sensitive inward rectifier potassium channel-11; ABCC8 = ATP-binding cassette subfamily C member-8)
report two patients with neonatal diabetes in whom we unexpectedly identified recessively inherited ABCC8 p.Glu747 loss-of-function mutations
In India, ABCC8 mutations were most common, with varied age of onset of diabetes, in our case series.
The patient carries a heterozygous mutation c.2690A>T(p.D897V) of ABCC8 gene.
Minor allele ABCC8 SNP genotypes have increased risk of cerebral edema, while major SNP alleles are protective in severe TBI.
The p.A1369S variant is associated with a significantly lower risk of type 2 diabetes (odds ratio [OR] 0.93; 95% CI 0.91, 0.95; P = 1.2 x 10(-11)). The variant is associated with increased BMI (+0.062 kg/m(2); 95% CI 0.037, 0.086; P = 8.1 x 10(-7)
Mutation in ABCC8 gene is associated with congenital hyperinsulinism.
ABCC8 mutation causing loss of function of beta-cell KATP channels lead to congenital hyperinsulinism, higher basal [Ca(2+)] i and insulin secretion, increased insulin secretion in response to amino acids but not to glucose, increased basal rate of oxygen consumption and mitochondrial mass, increased rates of glycolysis, increased serine/glycine and glutamine biosynthesis, and low gamma-aminobutyric acid (GABA) levels.
The findings of this study demonstrated a novel molecular mechanism involving the SUR1-TRPM4-AQP4 complex to account for bulk water influx during astrocyte swelling
Despite its importance in central nervous system (CNS) injuries, sulfonylurea receptor 1 (SUR1) upregulation appears to play no part in rodent anterior ischemic optic neuropathy (rAION) injury.
study provides evidence for a role of Abcc8(ATP-binding cassette sub-family C) in early-phase glucose-mediated insulin secretion and validates this gene as a contributor to beta-cell dysfunction in type 2 diabetes
We conclude that the gradual development of glucose intolerance in patients with the SUR1-E1506K mutation might, as in the mouse model, result from impaired insulin secretion due a failure of insulin content to increase with age.
The results confirm that Kir6.2 contributes to APD shortening in both atria and ventricle during metabolic stress, and that SUR1 is required for atrial APD shortening while SUR2A is required for ventricular APD shortening.
EPAC interaction with SUR1 controls seizure susceptibility and possibly acts via regulation of glutamate release.
the role of CpG methylation in regulating SUR1 and SUR2 expression
SUR1 controls K(ATP) channel activity but not TRPM4 channels.
Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8.
ATP regulates pancreatic beta-cell K(ATP) channel activity, not only by its direct actions on Kir6.2 pore subunit, but also via ATP modulation of Syn-1A binding to SUR1.
Diazoxide does not open the ventricular sarcolemmal adenosine triphosphate-sensitive potassium channel but provides volume homeostasis via an SUR1-dependent pathway in mouse ventricular myocytes.
The role of Abcc8, which encodes sulfonylurea receptor 1 (SUR1), was assessed in progressive hemorrhagic necrosis.
Sequestration of Kir6.2 in rough endoplasmic reticulum (RER) of Sur1 ( -/- ) islet cells is associated with an increase in rough endoplasmic reticulum length and mild oxidative stress without activation of the classical ER stress response.
Results indicate that in heart, significant differential KATP pharmacology in atria and ventricles, resulting from SUR1 predominance in forming the atrial channel, leads to differential effects of potassium channel openers on APD in the two chambers.
the SUR1 TMD0-Kir6.2 interface is mobile and that the gating modes of Kir6.2 correlate with distinct positions of TMD0
BETA2/NeuroD induces tissue-specific expression of the SUR1 gene through the E3 element
findings suggest that cholinergic stimulation is one of the mechanisms that compensate for the severely impaired response to glucose and GLP-1 brought on by the absence of Sur1, thereby allowing euglycemia to be maintained
SUR1 sulfonylurea receptor is a component of potassium ATP channels and its sequence determines isoforms with functional diversity
The role of SUR1 in the mechanism of neuronal ischemic preconditioning was evaluated in SUR1 knockout mice.
Role of SUR1 in the B cell extends beyond being a subunit of the plasma membrane K(ATP)-channel and that it also plays an unexpected but important role in the cAMP-dependent regulation of Ca(2+)-induced exocytosis.
islets express mRNA transcripts for sulfonylurea receptor 1 (Sur1), inward rectifying potassium channel (Kir6.2, associated with Sur1), glucagon-like peptide 1 receptor (GLP1R), and adrenergic receptor alpha 2A (ADRalpha2A)
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed\; however, the transcript variants have not been fully described.
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
, ATP-binding cassette, sub-family C, member 8
, ATP-binding cassette sub-family C member 8
, ATP-binding cassette transporter sub-family C member 8
, sulfonylurea receptor (hyperinsulinemia)
, sulfonylurea receptor 1
, sulfonylurea receptor
, sulphonylurea receptor 1