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    دورية أكاديمية
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    دورية أكاديمية

    المؤلفون: 孫閔貞, Sun, Min-Chen

    المساهمون: 湯志永, 臺灣大學:生理學研究所

    وصف الملف: 1648242 bytes; application/pdf

    العلاقة: Abbott GW, Sesti F, Splaewki I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA. MiRP1 forms IKr potassium channels with HERG and in voltage dependence of HERG is associated with cardiac arrhythmia. Cell 1999, 97:175–187 American Society of Human Genetics Ad Hoc Committeee on Cystic Fibrosis Carrier Screening Statement of The American Society of Human Genetics on Cystic Fibrosis Carrier Screening. Am. J. Hum. Genet. 1992, 51:1443-1444 Arikkath J, Chen CC, Ahern C, Allamand V, Flanagan JD, Coronado R, Gregg RG, Campbell KP. Gamma 1 subunit interactions within the skeletal muscle L-type voltage-gated calcium channels. J Biol Chem. 2003, 278:1212 -1219 Arikkath J, Campbell KP. Auxiliary subunits: essential components of the voltage-gated calcium channel complex. Curr Opin Neurobiol. 2003, 13: 298-307 Bertrand CA, and Frizzell RA. The role of regulated CFTR trafficking in epithelial secretion. Am J Physiol Cell Physiol. 2003, 285:C1-C18 Boat TF, Welsh MJ, Beaudet AL. The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 1989, p2649-2680 Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. Episodic ataxia with myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat. Genet. 1994, 8:136–140 Burgess DL, Gefrides LA, Foreman PJ, Noebels JL. A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family. Genomics 2001, 71:339-350 Campbell KP. Primary structure of the gamma subunit of the DHP- sensitive calcium channel from skeletal muscle. Science 1990, 248:490-492 Catterall WA. Interactions of presynaptic Ca2+ channels and snare proteins in neurotransmitter release. Ann N Y Acad Sci. 1999, 868:144- 159 Chang XB, Cui L, Hou YX, Jensen TJ, Aleksandrov AA, Mengos A, Riordan JR. Removal of multiple arginine-framed trafficking signals overcomes misprocessing of Δ508 CFTR present in most patients with cystic fibrosis. Mol Cell. 1999, 4:137-142 Charvin N, L'eveque C, Walker D, Berton F, Raymond C, Kataoka M, Shoji-Kasai Y, Takahashi M, De Waard M, Seagar MJ. Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P/Q-type calcium channel. EMBO J. 1997, 16:4591-4596 Chen YT and Tang CY. Dominant-negative effect of mutant P/Q type calcium channel associated with EA2. Thesis of Department of Physiology, College of Medicine, National Taiwan University. 2004 Chen YH, Li MH, Zhang Y, He LL, Yamada Y, Fitzmaurice A, Shen Y, Zhang H, Tong L, Yang J. Structural basis of the alpha1-beta subunit interaction of voltage-gated Ca2+ channels. Nature 2004, 429:675-680 Chien AJ, Gao T, Perez-Reyes E, Hosey MM. Membrane targeting of L-type calcium channels. Role of palmitoylation in the subcellular localization of the beta2a subunit. J Biol Chem. 1998, 273:23590-23597 Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmuller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004, 364:592-596 Chu PJ, Robertson HM, Best PM. Calcium channel gamma subunits provide insights into the evolution of this gene family. Gene 2001, 280:37-48 Collins FS. Cystic fibrosis: Molecular biology and therapeutic implications. Science 1992, 256:774-779 Cornet V, Bichet D, Sandoz G, Marty I, Brocard J, Bourinet E, Mori Y, Villaz M, De Waard M. Multiple determinants in voltage-dependent P/Q calcium channels control their retention in the endoplasmic reticulum. Eur J Neurosci. 2002, 16:883-95 Curtis BM, Catterall WA. Purification of the calcium antagonist receptor of the voltage-sensitive calcium channel from skeletal muscle transverse tubules. Biochemistry 1984, 23:2113-2118 De Waard M, Scott VE, Pragnell M, Campbell KP. Identification of critical amino acids involved in alpha1-beta interaction in voltage- dependent Ca2+ channels. FEBS Lett. 1996, 380:272-276 Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, Castelnovo G, Deonna T, Gerard P, Devoize JL, Gayou A, Perrouty B, Soisson T, Autret A, Warter JM, Vighetto A, Van Bogaert P, Alamowitch S, Roullet E, Tournier-Lasserve E. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology 1999, 52:1816-1821 Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 1992, 358:761-764 Deutsch C. The birth of a channel. Neuron 2003, 40:265-276 Ellgaard L, Molinari M, Helenius A. Setting the standards: quality control in the secretory pathway. Science 1999, 286:1882-1888 Ficker E, Dennis AT, Obejero-Paz CA, Castaldo P, Taglialatela M, Brown AM. Retention in the endoplasmic reticulum as a mechanism of dominant- negative current suppression in human long QT syndrome. J Mol Cell Cardiol. 2000, 32:2327-2337 Fishburn CS, Elazar Z, Fuchs S. Differential glycosylation and intracellular trafficking for the long and short isoforms of the D2 dopamine receptor. J Biol Chem. 1995,270:29819-29824 Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet. 1999, 8:1893-1900 Gottesman S1, Maurizi MR, Wickner S. Regulatory subunits of energy-dependent proteases. Cell 1997, 91:435-438 Gottesman S2, Wickner S, Maurizi MR. Protein quality control: triage by chaperones and proteases. Genes Dev. 1997, 11:815-823 Griggs RC, Moxley RT 3rd, Lafrance RA, McQuillen J. Hereditary paroxysmal ataxia: response to acetazolamide. Neurology 1978, 28:1259-1264 Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman K, Williams M, Volsen S, Ophoff R, Frants R, Jodice C, Frontali M, Pietrobon D. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet. 2001, 68:759-764 Gurnett CA, Felix R, Campbell KP. Extracellular interaction of the voltage-dependent Ca2+ channel alpha2delta and alpha1 subunits. J Biol Chem. 1997, 272:18508-18512 Harding HP, Zhang Y, Ron D. Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase. Nature 1999, 397:271-274 Heinemann SH, Terlau H, Stuhmer W, Imoto K, Numa S. Calcium channel characteristics conferred on the sodium channel by single mutations. Nature 1992, 356:441-443 Hu Q, Saegusa H, Hayashi Y, Tanabe T. The carboxy-terminal tail region of human Cav2.1 (P/Q-type) channel is not an essential determinant for its subcellular localization in cultured neurones. Genes Cells 2005, 10:87-96 Huang FD, Chen J, Lin M, Keating MT, Sanguinetti MC. Long-QT syndrome-associated missense mutations in the pore helix of the HERG potassium channel. Circulation 2001, 104:1071-1075 Jaskolski F, Coussen F, Nagarajan N, Normand E, Rosenmund C, Mulle C. Subunit composition and alternative splicing regulate membrane delivery of kainate receptors. J Neurosci. 2004, 24:2506-2515 Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM, Hanna MG. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet. 2001, 358:801-807 Jay SD, Ellis SB, McCue AF, Williams ME, Vedvick TS, Harpold MM, Campbell KP. Primary structure of the gamma subunit of the DHP- sensitive calcium channel from skeletal muscle. Science 1990, 248:490-492 Jen J, Wan J, Graves M, Yu H, Mock AF, Coulin CJ, Kim G, Yue Q, Papazian DM, Baloh RW. Loss of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology 2001, 57:1843-1848 Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology 2004, 62:17-22 Jensen T, Loo M, Pind S, Williams D, Goldberg A, Riordan J. Multiple proteolytic systems, including the proteosome, contribute to CFTR processing. Cell 1995, 83:129-136 Jimenez-Sanchez G, Childs B, Valle D. Human disease genes. Nature 2001, 409:853-855 Kagan A, Yu Z, Fishman GI, McDonald TV. The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. J Biol Chem. 2000, 275:11241-11248 Kim MS, Morii T, Sun LX, Imoto K, Mori Y. Structural determinants of ion selectivity in brain calcium channel. FEBS. Lett. 1993, 318:145-148 Klugbauer N, Dai S, Specht V, Lacinova L, Marais E, Bohn G, Hofmann F. A family of gamma-like calcium channel subunits. FEBS Lett. 2000, 470:189-197 Kosolapov A, Deutsch C. Folding of the voltage-gated K+ channel T1 recognition domain. J Biol Chem. 2003, 278:4305-4813 Kramer PL, Yue Q, Gancher ST, Nutt JG, Baloh R, Smith E, Browne D, Bussey K, Lovrien E, Nelson S, et al. A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p. Am J Hum Genet. 1995, 57:182-185 Kullmann DM. The neuronal channelopathies. Brain 2002, 125:1177-1195 Kuo CC, Hess P. Block of the L-type Ca2+ channel pore by external and internal Mg2+ in rat phaeochromocytoma cells. J. Physiol. 1993, 466:683-706 Lansman JB, Hess P, Tsien RW. Blockade of current through single calcium channels by Cd2+, Mg2+, and Ca2+. Voltage and concentration dependence of calcium entry into the pore. J. Gen. Physiol. 1986, 88:321-347 Lejeune, J. Le mongolism: premier exemple d'aberration autosomique humaine. Ann. Genet. 1959, 1:41-49 (in French) Letts E, Felix R, Biddlecome GH, Arikkath J, Mahaffey CL, Valenzuela A, Bartlett FS II, Mori Y, Campbell KP, Frankel WN. The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit. Nat Genet. 1998, 19: 340-347 Leung AT, Imagawa T, Campbell KP. Structural characterization of the 1,4-dihydropyridine receptor of the voltage-dependent Ca2+ channel from rabbit skeletal muscle. Evidence for two distinct high molecular weight subunits. J Biol Chem. 1987, 262:7943-7946 Luebke JI, Dunlap K, Turner TJ. Multiple calcium channel types control glutamatergic synaptic transmission in the hippocampus. Neuron 1993, 11:895-902 Lux A, Gallione CJ, Marchuk DA. Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms. Hum Mol Genet. 2000, 9:745-755 Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP. Post-translational disruption of dystroglycan -ligand interactions in congenital muscular dystrophies. Nature 2002, 418:417-422 Mochida S, Westenbroek RE, Yokoyama CT, Zhong H, Myers SJ, Scheuer T, Itoh K, Catterall WA. Requirement for the synaptic protein interaction site for reconstitution of synaptic transmission by P/Q-type calcium channels. Proc Natl Acad Sci U S A. 2003, 100:2819-2824 Mori Y, Wakamori M, Oda S, Fletcher CF, Sekiguchi N, Mori E, Copeland NG, Jenkins NA, Matsushita K, Matsuyama Z, Imoto K. Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol)). J Neurosci. 2000, 20:5654-5662 Moss FJ, Viard P, Davies A, Bertaso F, Page KM, Graham A, Canti C, Plumpton M, Plumpton C, Clare JJ, Dolphin AC. The novel product of a five-exon stargazin-related gene abolishes CaV2.2 calcium channel expression. EMBO J. 2002, 21:1514-1523 Maximov A, Bezprozvanny I. Synaptic targeting of N-type calcium channels in hippocampal neurons. J Neurosci. 2002, 22:6939-6952 Naren AP, Cormet-Boyaka E, Fu J, Villain M, Blalock JE, Quick MW, Kirk KL. CFTR chloride channel regulation by an interdomain interaction. Science 1999, 286:544-548 Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996, 87:543-552 Page KM, Heblich F, Davies A, Butcher AJ, Leroy J, Bertaso F, Pratt WS, Dolphin AC. Dominant-negative calcium channel suppression by truncated constructs involves a kinase implicated in the unfolded protein response. J Neurosci. 2004, 24:5400-5409 Pind S, Riordan JR, Williams DB. Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 1994, 269:12784-12788 Pragnell M, De Waard M, Mori Y, Tanabe T, Snutch TP, Campbell KP. Calcium channel beta-subunit binds to a conserved motif in the I-II cytoplasmic linker of the alpha 1-subunit. Nature 1994, 368:67-70 Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, Lannuzzi MC, Collins FS, Tsui LC. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066-1073 Rutkowski DT, Kaufman RJ. A trip to the ER: coping with stress. Trends Cell Biol. 2004, 14:20-28 Ruth P, Rohrkasten A, Biel M, Bosse E, Regulla S, Meyer HE, Flockerzi V, Hofmann F. Primary structure of the beta subunit of the DHP-sensitive calcium channel from skeletal muscle. Science 1989, 245:1115-1118 Sanguinetti MC, Curran ME, Spector PS, Keating MT. Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia. Proc Natl Acad Sci U S A. 1996, 93:2208-2212 Schwiebert E, Egan M, Hwang T, Fulmer S, Allen S, Cutting G, Guggino W. CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell 1995, 81:1063-1073 Scott DB, Blanpied TA, Swanson GT, Zhang C, Ehlers MD. An NMDA receptor ER retention signal regulated by phosphorylation and alternative splicing. J Neurosci. 2001, 21:3063-3072 Sharp AH, Black JL 3rd, Dubel SJ, Sundarraj S, Shen JP, Yunker AM, Copeland TD, McEnery MW. Biochemical and anatomical evidence for specialized voltage-dependent calcium channel gamma isoform expression in the epileptic and ataxic mouse, stargazer. Neuroscience 2001, 105:599-617 Sheng ZH, Yokoyama CT, Catterall WA. Interaction of the synprint site of N-type Ca2+ channels with the C2B domain of synaptotagmin I. Proc Natl Acad Sci U S A. 1997, 94:5405-5410 Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet. 1997, 61:68-79 Standley S, Roche KW, McCallum J, Sans N, Wenthold RJ. PDZ domain suppression of an ER retention signal in NMDA receptor NR1 splice variants. Neuron 2000, 28:887-898 Stutts MJ, Canessa C, Olsen J, Hamrick M, Cohn J, Rossier B, Boucher R. CFTR as a cAMP-dependent regulator of sodium channels. Science 1995, 269:847-850 Takahashi T, Momiyama A. Different types of calcium channels mediate central synaptic transmission. Nature 1993, 366:156-158 Tanabe T, Takeshima H, Mikami A, Flockerzi V, Takahashi H, Kangawa K, Kojima M, Matsuo H, Hirose T, Numa S. Primary structure of the receptor for calcium channel blockers from skeletal muscle. Nature 1987, 328 :313-318 Teh BT, Silburn P, Lindblad K, Betz R, Boyle R, Schalling M, Larsson C. Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. Am J Hum Genet. 1995, 56:1443-1449 Trombetta ES, Parodi AJ. Quality control and protein folding in the secretory pathway. Annu Rev Cell Dev Biol. 2003;19:649-676 Van Petegem F, Clark KA, Chatelain FC, Minor DL Jr. Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain. Nature 2004, 429:671-675 Vance CL, Begg CM, Lee WL, Dubel SJ, Copeland TD, Sonnichsen FD, McEnery MW. N-type calcium channel/syntaxin/SNAP-25 complex probed by antibodies to II-III intracellular loop of the alpha1B subunit. Neuroscience 1999, 90:665-676 Veitia RA. Exploring the etiology of haploinsufficiency. Bioessays 2002, 24175-184 Viard P, Butcher AJ, Halet G, Davies A, Nurnberg B, Heblich F, Dolphin AC. PI3K promotes voltage-dependent calcium channel trafficking to the plasma membrane. Nat Neurosci. 2004, 7:939-946 von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet. 1995, 4:279-284 Walker D, Bichet D, Geib S, Mori E, Cornet V, Snutch TP, Mori Y, De Waard M. A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation. J Biol Chem. 1999, 274:12383-12390 Wappl E, Koschak A, Poteser M, Sinnegger MJ, Walter D, Eberhart A, Groschner K, Glossmann H, Kraus RL, Grabner M, Striessnig J. Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia. J Biol Chem. 2002, 277:6960-6966 Ward C, Kopito R. Intracellular turnover of cystic fibrosis transmembrane conductance regulator. J Biol Chem. 1994, 269:25710-25718 Ward C, Omura C, Kopito R. Degradation of CFTR by the ubiquitin- proteosome pathway. Cell 1995, 83:121-128 Xia H, Hornby ZD, Malenka RC. An ER retention signal explains differences in surface expression of NMDA and AMPA receptor subunits. Neuropharm 2001, 41:714-723 Yang J, Ellinor PT, Sather WA, Zhang JF, Tsien RW. Molecular determinants of Ca2+ selectivity and ion permeation in L-type Ca2+ channels. Nature 1993, 366:158-161 Zhou Z, Gong Q, Epstein ML, January CT. HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. J Biol Chem. 1998, 273:21061-21066 Zhu J, Watanabe I, Gomez B, Thornhill WB. Heteromeric Kv1 potassium channel expression: amino acid determinants involved in processing and trafficking to the cell surface. J Biol Chem. 2003, 278:25558- 25567; zh-TW; http://ntur.lib.ntu.edu.tw/handle/246246/63562Test; http://ntur.lib.ntu.edu.tw/bitstream/246246/63562/1/ntu-94-R92441005-1.pdfTest

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