From molecule to malady

被引:311
作者
Ashcroft, FM [1 ]
机构
[1] Univ Oxford, Physiol Lab, Oxford OX1 3PT, England
基金
英国惠康基金;
关键词
D O I
10.1038/nature04707
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Ion channels are membrane proteins, found in virtually all cells, that are of crucial physiological importance. In the past decade, an explosion in the number of crystal structures of ion channels has led to a marked increase in our understanding of how ion channels open and close, and select between permeant ions. There has been a parallel advance in research on channelopathies (diseases resulting from impaired channel function), and mutations in over 60 ion-channel genes are now known to cause human disease. Characterization of their functional consequences has afforded unprecedented and unexpected insights into ion-channel mechanisms and physiological roles.
引用
收藏
页码:440 / 447
页数:8
相关论文
共 51 条
  • [1] Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension
    Ambrosius, WT
    Bloem, LJ
    Zhou, LF
    Rebhun, JF
    Snyder, PM
    Wagner, MA
    Guo, CL
    Pratt, JH
    [J]. HYPERTENSION, 1999, 34 (04) : 631 - 637
  • [2] The α7 nicotinic acetylcholine receptor:: Molecular modelling, electrostatics, and energetics
    Amiri, S
    Tai, K
    Beckstein, O
    Biggin, PC
    Sansom, MSP
    [J]. MOLECULAR MEMBRANE BIOLOGY, 2005, 22 (03) : 151 - 162
  • [3] 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
    [J]. EMBO JOURNAL, 2005, 24 (02) : 229 - 239
  • [4] Type 2 diabetes mellitus: not quite exciting enough?
    Ashcroft, F
    Rorsman, P
    [J]. HUMAN MOLECULAR GENETICS, 2004, 13 : R21 - R31
  • [5] Ashcroft F.M., 2000, Ion Channels and Disease
  • [6] GLUCOSE INDUCES CLOSURE OF SINGLE POTASSIUM CHANNELS IN ISOLATED RAT PANCREATIC BETA-CELLS
    ASHCROFT, FM
    HARRISON, DE
    ASHCROFT, SJH
    [J]. NATURE, 1984, 312 (5993) : 446 - 448
  • [7] ATP-sensitive potassium channelopathies: focus on insulin secretion
    Ashcroft, FM
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (08) : 2047 - 2058
  • [8] Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors
    Brejc, K
    van Dijk, WJ
    Klaassen, RV
    Schuurmans, M
    van der Oost, J
    Smit, AB
    Sixma, TK
    [J]. NATURE, 2001, 411 (6835) : 269 - 276
  • [9] MPS-1 is a K+ channel β-subunit and a serine/threonine kinase
    Cai, SQ
    Hernandez, L
    Wang, Y
    Park, KH
    Sesti, F
    [J]. NATURE NEUROSCIENCE, 2005, 8 (11) : 1503 - 1509
  • [10] Structure of the MscL homolog from Mycobacterium tuberculosis:: A gated mechanosensitive ion channel
    Chang, G
    Spencer, RH
    Lee, AT
    Barclay, MT
    Rees, DC
    [J]. SCIENCE, 1998, 282 (5397) : 2220 - 2226