Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.
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A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetesCoexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel.The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetesCantú syndrome is caused by mutations in ABCC9.Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channelKATP Channels in the Cardiovascular System.Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.Review. SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator.The molecular genetics of sulfonylurea receptors in the pathogenesis and treatment of insulin secretory disorders and type 2 diabetes.Management of diabetes mellitus in infants.Neonatal diabetes caused by activating mutations in the sulphonylurea receptorInteraction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increases MgATPase activity.Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening.Carbamazepine inhibits ATP-sensitive potassium channel activity by disrupting channel response to MgADP.Molecular determinants of ATP-sensitive potassium channel MgATPase activity: diabetes risk variants and diazoxide sensitivity.KATP Channel Mutations and Neonatal Diabetes.Functional clustering of mutations in the dimer interface of the nucleotide binding folds of the sulfonylurea receptor.A cytosolic factor that inhibits KATP channels expressed in Xenopus oocytes by impairing Mg-nucleotide activation by SUR1.17beta-Estradiol modulates apoptosis in pancreatic beta-cells by specific involvement of the sulfonylurea receptor (SUR) isoform SUR1.
P2860
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P2860
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.
description
2007 nî lūn-bûn
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2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
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2007年學術文章
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2007年學術文章
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name
Increased ATPase activity prod ...... BCC8 causes neonatal diabetes.
@ast
Increased ATPase activity prod ...... BCC8 causes neonatal diabetes.
@en
type
label
Increased ATPase activity prod ...... BCC8 causes neonatal diabetes.
@ast
Increased ATPase activity prod ...... BCC8 causes neonatal diabetes.
@en
prefLabel
Increased ATPase activity prod ...... BCC8 causes neonatal diabetes.
@ast
Increased ATPase activity prod ...... BCC8 causes neonatal diabetes.
@en
P2093
P2860
P50
P356
P1476
Increased ATPase activity prod ...... BCC8 causes neonatal diabetes.
@en
P2093
Ann-Marie Patch
Frances M Ashcroft
Jussi Aittoniemi
Kenju Shimomura
Mark S P Sansom
Mathew G Rees
P2860
P304
18988-18992
P356
10.1073/PNAS.0707428104
P407
P577
2007-11-19T00:00:00Z