Neonatal diabetes -: The role of KCNJ11 (Kir6.2)

被引:0
|
作者
Tammaro, Paolo [1 ]
机构
[1] Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3PT, England
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
ATP-sensitive potassium (K-ATP) channels are inhibited by intracellular ATP and activated by MgADP. As a consequence, they couple the metabolic state of the cell to its electrical activity. In pancreatic P-cells KATp channels regulate glucose-dependent insulin secretion and are the target for sulphonylurea drugs clinically employed in the treatment of type 2 diabetes. This review discusses recent advances in our understanding of the role of KATp channels in permanent neonatal diabetes mellitus. Copyright (C) 2007 S. Karger AG, Basel.
引用
收藏
页码:70 / 82
页数:13
相关论文
共 50 条
  • [41] Precision medicine in KCNJ11 permanent neonatal diabetes
    Greeley, Siri Atma W.
    Letourneau, Lisa R.
    Philipson, Louis H.
    LANCET DIABETES & ENDOCRINOLOGY, 2018, 6 (08): : 594 - 595
  • [42] The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP-binding residue
    Shimomura, K.
    de Nanclares, G. P.
    Foutinou, C.
    Caimari, M.
    Castano, L.
    Ashcroft, F. M.
    DIABETIC MEDICINE, 2010, 27 (02) : 225 - 229
  • [43] Neuropsychological impairments in children with KCNJ11 neonatal diabetes
    Bowman, P.
    Hattersley, A. T.
    Knight, B. A.
    Broadbridge, E.
    Pettit, L.
    Reville, M.
    Flanagan, S. E.
    Shepherd, M. H.
    Ford, T. J.
    Tonks, J.
    DIABETIC MEDICINE, 2017, 34 (08) : 1171 - 1173
  • [44] Successful therapy with sulfonylurea in a 6 year old boy with permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2 of the KCNJ11 gene - patient characteristics and response to one year treatment
    Wagner, Verena
    Kremke, Britta
    Pearson, Ewan
    Hattersley, Andrew
    Hiort, Olaf
    HORMONE RESEARCH, 2006, 65 : 70 - 70
  • [45] Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
    Proks, P
    Antcliff, JF
    Gloyn, AL
    Hattersley, AT
    Ashcroft, FM
    BIOPHYSICAL JOURNAL, 2005, 88 (01) : 181A - 181A
  • [46] DEND Mutation in Kir6.2 (KCNJ11) Reveals a Flexible N-Terminal Region Critical for ATP-Sensing of the KATP Channel
    Koster, Joseph C.
    Kurata, Harley T.
    Enkvetchakul, Decha
    Nichols, Colin G.
    BIOPHYSICAL JOURNAL, 2008, 95 (10) : 4689 - 4697
  • [47] Permanent neonatal diabetes due to KCNJ11 gene mutation
    S. Letha
    Darly Mammen
    Joseph J. Valamparampil
    The Indian Journal of Pediatrics, 2007, 74 : 947 - 949
  • [48] Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions
    Tammaro, P
    Girard, C
    Molnes, J
    Njolstad, PR
    Ashcroft, FM
    EMBO JOURNAL, 2005, 24 (13): : 2318 - 2330
  • [49] Permanent neonatal diabetes due to KCNJ11 gene mutation
    Letha, S.
    Mammen, Darly
    Valamparampil, Joseph J.
    INDIAN JOURNAL OF PEDIATRICS, 2007, 74 (10): : 947 - 949
  • [50] Novel KCNJ11 mutation resulting in transient neonatal diabetes
    Dabrowski, Susan M.
    Solorzano, Christine M. Burt
    Clarke, William L.
    DeBoer, Mark D.
    HORMONE RESEARCH, 2009, 72 : 184 - 184