专题报道 |
|
|
|
|
I1363T突变致人骨骼肌电压门控钠通道快失活受损的机制 |
唐思阳1( ),叶佳1,李月舟1,2( ) |
1. 浙江大学医学院生物物理学系, 浙江 杭州310058 2. 浙江大学医学院附属儿童医院实验检验中心, 浙江 杭州310052 |
|
I1363T mutation induces the defects in fast inactivation of human skeletal muscle voltage-gated sodium channel |
TANG Siyang1( ),YE Jia1,LI Yuezhou1,2( ) |
1.Department of Biophysics, Zhejiang University School of Medicine, Hangzhou 310058, China 2.Department of Laboratory, the Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China |
1 |
PTACEK L J , GOUW L , KWIECI?SKI H , et al . Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis[J]. Ann Neurol,1993,33(3):300-307.
|
2 |
LEHMANN-HORN F , RüDEL R , RICKER K . Membrane defects in paramyotonia congenita (Eulenburg)[J]. Muscle Nerve,1987,10(7):633-641.
|
3 |
CHAHINE M , GEORGE A L , ZHOU M , et al . Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation[J]. Neuron,1994,12(2):281-294.
|
4 |
PTáCEK L J , GEORGE A L , BARCHI R L , et al . Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita[J]. Neuron,1992,8(5):891-897.
|
5 |
HOFFMAN E P , LEHMANN-HORN F , RüDEL R . Overexcited or inactive: ion channels in muscle disease[J]. Cell,1995,80(5):681-686.
|
6 |
WOOD J N , BAKER M . Voltage-gated sodium channels[J]. Curr Opin Pharmacol,2001,1(1):17-21.
|
7 |
CATTERALL W A . Cellular and molecular biology of voltage-gated sodium channels[J]. Physiol Rev,1992,72(4 Suppl):S15-S48.
|
8 |
CATTERALL W A . From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels[J]. Neuron,2000,26(1):13-25.
|
9 |
MARBAN E , YAMAGISHI T , TOMASELLI G F . Structure and function of voltage-gated sodium channels[J]. J Physiol,1998,508( Pt 3):647-657.
|
10 |
MILLER T M , DIAS D S M R , MILLER H A , et al . Correlating phenotype and genotype in the periodic paralyses[J]. Neurology,2004,63(9):1647-1655.
|
11 |
EGRI C , RUBEN P C . A hot topic: temperature sensitive sodium channelopathies[J]. Channels(Austin),2012,6(2):75-85.
|
12 |
SUGIURA Y , AOKI T , SUGIYAMA Y , et al . Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis[J]. Neurology,2000,54(11):2179-2181.
|
13 |
WAGNER S , LERCHE H , MITROVIC N , et al . A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity[J]. Neurology,1997,49(4):1018-1025.
|
14 |
CUMMINS T R , ZHOU J , SIGWORTH F J , et al . Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis[J]. Neuron,1993,10(4):667-678.
|
15 |
O’LEARY M E , CHEN L Q , KALLEN R G , et al . A molecular link between activation and inactivation of sodium channels[J]. J Gen Physiol,1995,106(4):641-658.
|
16 |
BENDAHHOU S , CUMMINS T R , KULA R W , et al . Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5[J]. Neurology,2002,58(8):1266-1272.
|
17 |
WEBB J , CANNON S C . Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia[J]. Neurology,2008,70(10):755-761.
|
18 |
BOUHOURS M , STERNBERG D , DAVOINE C S , et al . Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans[J]. J Physiol,2004,554(Pt 3):635-647.
|
19 |
DICE M S , ABBRUZZESE J L , WHEELER J T , et al . Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M[J]. Muscle Nerve,2004,30(3):277-288.
|
20 |
SIMKIN D , BENDAHHOU S . Skeletal muscle na channel disorders[J]. Front Pharmacol,2011,2:63.
|
21 |
MOHAMMADI B , MITROVIC N , LEHMANN-HORN F , et al . Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V[J]. J Physiol,2003,547(Pt 3):691-698.
|
22 |
JURKAT-ROTT K , HOLZHERR B , FAULER M , et al . Sodium channelopathies of skeletal muscle result from gain or loss of function[J]. Pflugers Arch,2010,460(2):239-248.
|
23 |
KE Q , YE J , TANG S , et al . N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita[J]. J Physiol,2017,595(22):6837-6850.
|
24 |
OKUDA S , KANDA F , NISHIMOTO K , et al . Hyperkalemic periodic paralysis and paramyotonia congenita—a novel sodium channel mutation[J]. J Neurol,2001,248(11):1003-1004.
|
25 |
PAYANDEH J , SCHEUER T , ZHENG N , et al . The crystal structure of a voltage-gated sodium channel[J]. Nature,2011,475(7356):353-358.
|
26 |
ZHANG X , REN W , DECAEN P , et al . Crystal structure of an orthologue of the NaChBac voltage-gated sodium channel[J]. Nature,2012,486(7401):130-134.
|
27 |
SHEN H , ZHOU Q , PAN X , et al . Structure of a eukaryotic voltage-gated sodium channel at near-atomic resolution[J]. Science,2017,355(6328):eaal4326.
|
28 |
SHEN H , LI Z , JIANG Y , et al . Structural basis for the modulation of voltage-gated sodium channels by animal toxins[J]. Science,2018,362(6412):eaau2596.
|
29 |
MOMANY F A , MCGUIRE R F , BURGESS A W , et al . Energy parameters in polypeptides. Ⅶ. Geometric parameters, partial atomic charges, nonbonded interactions, hydrogen bond interactions, and intrinsic torsional potentials for the naturally occurring amino acids[J]. J Phys Chem,1975,79(22):2361-2381.
|
30 |
NEMETHY G , POTTLE M S , SCHERAGA H A . Energy parameters in polypeptides. 9. Updating of geometrical parameters, nonbonded interactions, and hydrogen bond interactions for the naturally occurring amino acids[J]. J Phys Chem,1983,87(11):1883-1887.
|
31 |
LEHMANN-HORN F , ENGEL A G , RICKER K , et al . The periodic paralyses and paramyotonia congenita[J]. Myology,1994,2:1303-1334.
|
|
Viewed |
|
|
|
Full text
|
|
|
|
|
Abstract
|
|
|
|
|
Cited |
|
|
|
|
|
Shared |
|
|
|
|
|
Discussed |
|
|
|
|