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Volumn 27, Issue 2, 2010, Pages 225-229

The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): A major ATP-binding residue

Author keywords

Neonatal diabetes; Sulphonylurea

Indexed keywords

ADENOSINE TRIPHOSPHATE MAGNESIUM; GLIBENCLAMIDE; GLUCOSE; HEMOGLOBIN A1C; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; TOLBUTAMIDE; ABC TRANSPORTER; ADENOSINE TRIPHOSPHATE; INWARDLY RECTIFYING POTASSIUM CHANNEL;

EID: 76249101558     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/j.1464-5491.2009.02901.x     Document Type: Article
Times cited : (13)

References (28)
  • 1
    • 2342633204 scopus 로고    scopus 로고
    • Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
    • Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Eng J Med 2004 350 : 1838 1849.
    • (2004) N Eng J Med , vol.350 , pp. 1838-1849
    • Gloyn, A.L.1    Pearson, E.R.2    Antcliff, J.F.3    Proks, P.4    Bruining, G.J.5    Slingerland, A.S.6
  • 2
    • 33646513278 scopus 로고    scopus 로고
    • Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype
    • Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia 2006 49 : 1190 1197.
    • (2006) Diabetologia , vol.49 , pp. 1190-1197
    • Flanagan, S.E.1    Edghill, E.L.2    Gloyn, A.L.3    Ellard, S.4    Hattersley, A.T.5
  • 3
    • 24144467758 scopus 로고    scopus 로고
    • Activating mutations in Kir6.2 and neonatal diabetes: New clinical syndromes, new scientific insights and new therapy
    • Hattersley AT, Ashcroft FM. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights and new therapy. Diabetes 2005 54 : 2503 2513.
    • (2005) Diabetes , vol.54 , pp. 2503-2513
    • Hattersley, A.T.1    Ashcroft, F.M.2
  • 4
    • 33748288147 scopus 로고    scopus 로고
    • Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects
    • Shimomura K, Girard CA, Proks P, Nazam J, Lippiat JD, Cerutti F et al. Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Diabetes 2006 55 : 1705 1712.
    • (2006) Diabetes , vol.55 , pp. 1705-1712
    • Shimomura, K.1    Girard, C.A.2    Proks, P.3    Nazam, J.4    Lippiat, J.D.5    Cerutti, F.6
  • 5
    • 33847025257 scopus 로고    scopus 로고
    • An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes
    • Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG et al. An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. Diabetes 2007 56 : 328 336.
    • (2007) Diabetes , vol.56 , pp. 328-336
    • Masia, R.1    Koster, J.C.2    Tumini, S.3    Chiarelli, F.4    Colombo, C.5    Nichols, C.G.6
  • 6
    • 20044389281 scopus 로고    scopus 로고
    • A novel gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome
    • Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom MSP et al. A novel gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep 2005 6 : 470 475.
    • (2005) EMBO Rep , vol.6 , pp. 470-475
    • Proks, P.1    Girard, C.2    Haider, S.3    Gloyn, A.L.4    Hattersley, A.T.5    Sansom, M.S.P.6
  • 7
    • 10644233000 scopus 로고    scopus 로고
    • Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features
    • Proks P, Antcliff JF, Lippiat J, Gloyn A, Hattersely A, Ashcroft FM. Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci USA 2004 101 : 17539 17544.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 17539-17544
    • Proks, P.1    Antcliff, J.F.2    Lippiat, J.3    Gloyn, A.4    Hattersely, A.5    Ashcroft, F.M.6
  • 8
    • 40849139200 scopus 로고    scopus 로고
    • The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor disfunction in adulthood that is improved with sulfonylurea therapy
    • Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F. The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor disfunction in adulthood that is improved with sulfonylurea therapy. J Clin Endocrinol Metab 2007 93 : 1054 1061.
    • (2007) J Clin Endocrinol Metab , vol.93 , pp. 1054-1061
    • Koster, J.C.1    Cadario, F.2    Peruzzi, C.3    Colombo, C.4    Nichols, C.G.5    Barbetti, F.6
  • 9
    • 34748869665 scopus 로고    scopus 로고
    • A novel mutation causing DEND syndrome - A treatable channelopathy of pancreas and brain
    • Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT et al. A novel mutation causing DEND syndrome - a treatable channelopathy of pancreas and brain. Neurology 2007 6 : 1342 1349.
    • (2007) Neurology , vol.6 , pp. 1342-1349
    • Shimomura, K.1    Hörster, F.2    De Wet, H.3    Flanagan, S.E.4    Ellard, S.5    Hattersley, A.T.6
  • 10
    • 24944501418 scopus 로고    scopus 로고
    • Enhanced activation by MgATP contributes significantly to the functional effects of KCNJ11 mutations causing neonatal diabetes
    • Proks P, Girard C, Ashcroft FM. Enhanced activation by MgATP contributes significantly to the functional effects of KCNJ11 mutations causing neonatal diabetes. Hum Mol Genet 2005 14 : 2717 2726.
    • (2005) Hum Mol Genet , vol.14 , pp. 2717-2726
    • Proks, P.1    Girard, C.2    Ashcroft, F.M.3
  • 11
    • 33746686369 scopus 로고    scopus 로고
    • The successful transfer of insulin treated patient with diabetes due to kir6.2 (KCNJ11) mutations to sulphonylurea tablets
    • Neonatal Diabetes International Collaborative Group
    • Pearson ER, Flechtner I, Njolstad PR, Neonatal Diabetes International Collaborative Group, Malecki MT, Flanagan S et al. The successful transfer of insulin treated patient with diabetes due to kir6.2 (KCNJ11) mutations to sulphonylurea tablets. N Engl J Med 2006 355 : 467 477.
    • (2006) N Engl J Med , vol.355 , pp. 467-477
    • Pearson, E.R.1    Flechtner, I.2    Njolstad, P.R.3    Malecki, M.T.4    Flanagan, S.5
  • 12
    • 33645322386 scopus 로고    scopus 로고
    • KATP channels as molecular sensors of cellular mechanism
    • Nichols CG. KATP channels as molecular sensors of cellular mechanism. Nature 2006 440 : 470 476.
    • (2006) Nature , vol.440 , pp. 470-476
    • Nichols, C.G.1
  • 13
    • 35148826457 scopus 로고    scopus 로고
    • ATP-sensitive K+ channel and disease: From molecule to malady
    • Ashcroft FM. ATP-sensitive K+ channel and disease: from molecule to malady. Am J Physiol Endocrinol Metab 2007 293 : E880 E889.
    • (2007) Am J Physiol Endocrinol Metab , vol.293
    • Ashcroft, F.M.1
  • 14
    • 0021741559 scopus 로고
    • Glucose induces closure of single potassium channels in isolated rat pancreatic β-cells
    • Ashcroft FM, Harrison DE, Ashcroft SJH. Glucose induces closure of single potassium channels in isolated rat pancreatic β-cells. Nature 1984 312 : 446 448.
    • (1984) Nature , vol.312 , pp. 446-448
    • Ashcroft, F.M.1    Harrison, D.E.2    Ashcroft, S.J.H.3
  • 15
    • 0033760442 scopus 로고    scopus 로고
    • Triggering and amplifying pathways of regulation of insulin secretion by glucose
    • Henquin JC. Triggering and amplifying pathways of regulation of insulin secretion by glucose. Diabetes 2000 49 : 1751 1760.
    • (2000) Diabetes , vol.49 , pp. 1751-1760
    • Henquin, J.C.1
  • 16
    • 0034677634 scopus 로고    scopus 로고
    • Targeted overactivity of beta cell KATP channels induces profound neonatal diabetes
    • Koster JC, Marshall BA, Ensor N, Corbett JA, Nichols CG. Targeted overactivity of beta cell KATP channels induces profound neonatal diabetes. Cell 2000 100 : 645 654.
    • (2000) Cell , vol.100 , pp. 645-654
    • Koster, J.C.1    Marshall, B.A.2    Ensor, N.3    Corbett, J.A.4    Nichols, C.G.5
  • 17
    • 58749114004 scopus 로고    scopus 로고
    • Secondary consequences of beta cell inexcitability: Identification and prevention in a murine model of K(ATP)-induced neonatal diabetes mellitus
    • Remedi MS, Kurata HT, Scott A, Wunderlich FT, Rother E, Kleinridders A et al. Secondary consequences of beta cell inexcitability: identification and prevention in a murine model of K(ATP)-induced neonatal diabetes mellitus. Cell Metab 2009 9 : 140 151.
    • (2009) Cell Metab , vol.9 , pp. 140-151
    • Remedi, M.S.1    Kurata, H.T.2    Scott, A.3    Wunderlich, F.T.4    Rother, E.5    Kleinridders, A.6
  • 19
    • 0042071600 scopus 로고    scopus 로고
    • Sulphonylurea action revisited: The post-cloning era
    • Gribble FM, Reinmann F. Sulphonylurea action revisited: the post-cloning era. Diabetologia 2003 46 : 875 891.
    • (2003) Diabetologia , vol.46 , pp. 875-891
    • Gribble, F.M.1    Reinmann, F.2
  • 20
    • 0031005755 scopus 로고    scopus 로고
    • Truncation of Kir6.2 produces ATP sensitive K+ channels in absence of the sulphonylurea receptor
    • Tucker SJ, Gribble FM, Zhao C, Trapp S, Ashcroft FM. Truncation of Kir6.2 produces ATP sensitive K+ channels in absence of the sulphonylurea receptor. Nature 1997 387 : 179 181.
    • (1997) Nature , vol.387 , pp. 179-181
    • Tucker, S.J.1    Gribble, F.M.2    Zhao, C.3    Trapp, S.4    Ashcroft, F.M.5
  • 22
    • 0030907755 scopus 로고    scopus 로고
    • The essential role of the Walker A motifs of SUR1 in KATP channel activation by MgADP and diazoxide
    • Gribble FM, Tucker SJ, Ashcroft FM. The essential role of the Walker A motifs of SUR1 in KATP channel activation by MgADP and diazoxide. EMBO J 1997 16 : 1145 1152.
    • (1997) EMBO J , vol.16 , pp. 1145-1152
    • Gribble, F.M.1    Tucker, S.J.2    Ashcroft, F.M.3
  • 23
    • 13444274375 scopus 로고    scopus 로고
    • Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit
    • Antcliff JF, Haider S, Proks P, Sansom MSP, Ashcroft FM. Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit. EMBO J 2005 24 : 229 239.
    • (2005) EMBO J , vol.24 , pp. 229-239
    • Antcliff, J.F.1    Haider, S.2    Proks, P.3    Sansom, M.S.P.4    Ashcroft, F.M.5
  • 24
    • 0038714391 scopus 로고    scopus 로고
    • Identification of residues contributing to ATP binding site of Kir6.2
    • Trapp S, Haider S, Jones P, Sansom MS, Ashcroft FM. Identification of residues contributing to ATP binding site of Kir6.2. EMBO J 2003 22 : 2903 2912.
    • (2003) EMBO J , vol.22 , pp. 2903-2912
    • Trapp, S.1    Haider, S.2    Jones, P.3    Sansom, M.S.4    Ashcroft, F.M.5
  • 25
    • 33947709389 scopus 로고    scopus 로고
    • Molecular dynamics simulations of inwardly rectifying (Kir) potassium channels: A comparative study
    • Haider S, Khalid S, Tucker SJ, Ashcroft FM, Sansom MS. Molecular dynamics simulations of inwardly rectifying (Kir) potassium channels: a comparative study. Biochemistry 2007 46 : 3643 3652.
    • (2007) Biochemistry , vol.46 , pp. 3643-3652
    • Haider, S.1    Khalid, S.2    Tucker, S.J.3    Ashcroft, F.M.4    Sansom, M.S.5
  • 26
    • 0033548244 scopus 로고    scopus 로고
    • Direct photoaffinity labeling of the Kir6.2 subunit of the ATP-sensitive K+ channel by 8-azide-ATP
    • Tanabe K, Tucker SJ, Matsuo M, Proks P, Ashcroft FM, Seino S et al. Direct photoaffinity labeling of the Kir6.2 subunit of the ATP-sensitive K + channel by 8-azide-ATP. J Biol Chem 1999 274 : 3931 3933.
    • (1999) J Biol Chem , vol.274 , pp. 3931-3933
    • Tanabe, K.1    Tucker, S.J.2    Matsuo, M.3    Proks, P.4    Ashcroft, F.M.5    Seino, S.6
  • 27
    • 0037216826 scopus 로고    scopus 로고
    • Molecular basis for Kir6.2 channel inhibition by adenosine nucleotides
    • Ribalet B, John SA, Weiss JN. Molecular basis for Kir6.2 channel inhibition by adenosine nucleotides. Biophys J 2003 84 : 266 276.
    • (2003) Biophys J , vol.84 , pp. 266-276
    • Ribalet, B.1    John, S.A.2    Weiss, J.N.3
  • 28
    • 0033558098 scopus 로고    scopus 로고
    • ATP inhibition of KATP channels: Control of nucleotide sensitivity by the N-terminal domain of the Kir6.2 subunit
    • Koster JC, Sha Q, Shyng SL, Nichols CG. ATP inhibition of KATP channels: control of nucleotide sensitivity by the N-terminal domain of the Kir6.2 subunit. J Physiol 1999 515 : 19 30.
    • (1999) J Physiol , vol.515 , pp. 19-30
    • Koster, J.C.1    Sha, Q.2    Shyng, S.L.3    Nichols, C.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.