Calcium channelopathies

Kidney International

Volumn 57, Issue 3, 2000, Pages 794-802

  Lorenzon, Nancy M ^a   Beam, Kurt G ^a  

^a Department of Ecosystem Science and Sustainability   (United States)

Author keywords

Calcium channel; Cellular function; Gene mutation; Muscle; Neuron; Voltage gated Ca channels

Indexed keywords

CALCIUM CHANNEL; VOLTAGE GATED CHANNEL FORMING PROTEIN;

CALCIUM CURRENT; CONFERENCE PAPER; GENE MUTATION; HUMAN; NEUROLOGIC DISEASE; NIGHT BLINDNESS; NONHUMAN; PRIORITY JOURNAL; PROTEIN STRUCTURE; SYNAPTIC TRANSMISSION;

EID: 0033933227     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2000.00917.x     Document Type: Conference Paper

References (64)

1. SMUTCH TP, LEONARD JP, GILBERT MM, LESTER HA, DAVIDSON N: Rat brain expresses a heterogeneous family of calcium channels. Proc Natl Acad Sei USA 87:3391-3395, 1990
2. SOONG TW, STEA A, HUDSON CD, DUBEL SJ, VINCENT SR, SNUTCII TP: Structure and functional expression of a member of the low voltage-activated calcium channel family. Science 260:1133-1136, 1993
3. BECII-HANSEN NT, NAYLOR MJ, MAYBAUM TA, PEARCE WG, KOOP B, FISIIMAN GA, METS M, MUSARELLA MA, BOYCOTT KM: Loss-of-function mutations in a calcium-channel α1-subunit gene in Xpl 1.23 cause incomplete X-linked stationary night blindness. Nat Genet 19:264-267, 1998
4. STROM TM, NYAKATURA G, APEFELSTEDT-SYLLA E, HELLEBRAND H, LORENZ B, WEBER BHF, Wurz K, GUTWILLINGER N, RUTHER K, DRESCHER B, SAUER C, ZRENNER E, MEITINGER T, ROSENTIIAL A, MEINDL A: A L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nature Genet 19:260-263, 1998
5. PEREZ-REYES E, CRIBBS LL, DAUD A, LACERDA AE, BARCLAY J, WILLIAMSON MP, Fox M, REEs M, LEE J-H: Molecular characterization of a neuronal low voltage-activated T-type calcium channel. Nature 391:896-900, 1998
6. CRIBBS LL, LEE J-H, YANG J, SATIN J, ZIIANG Y, DAUD A, BARCLAY J, WILLIAMSON MP, Fox M, REHS M, PEREZ-REYES E: Cloning and characterization of am from human heart, a member of the T-type calcium channel gene family. Circ Res 83:103-109, 1998
7. LEE J-H, DAUD AN, CRIBBS LL, LACERDA AE, PEREVERZEV A, KLOCKNER U, SCHNEIDER T, PEREZ-REYES E: Cloning and expression of a novel member of the low voltage-activated T-type calcium channel family. J Ncnrosci 19:1912-1921, 1999
8. TANABE T, TAKESIIIMA H, MIKAMI A, FLOCKERZI V, TAKAIIASHI H, KANGAWA K, KOJIMA M, MATSUO H, HIROSE T, NUMA S: Primary structure of the receptor for calcium channel blockers from skeletal muscle. Nature 328:313-318, 1987
9. 1A subunits of brain calcium channels. J Neurosci 15:6403-6418, 1995
10. MORI Y, FRIEDRICH T, KIM M-S, MIKAMI A, NAKAI J, RUTH P, BOSSE E, HOFMANN F, FLOCKERZI V, FURUICHI T, MIKOSHIBA K, IMOTO K, TANABE T, NUMA S: Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 350:398-402, 1991
11. SATHER WA, TANABE T, ZIIANG J-F, MORI Y, ADAMS ME, TSIEN RW: Distinctive biophysical and pharmacological properties of Class A (Bl) calcium channel al subunits. Neuron 11:291-303, 1993
12. STARR TVB, PRYSTAY W, SNUTCII TP: Primary structure of a calcium channel that is highly expressed in the rat cerebellum. Proc Natl Acad Sei USA 88:5621-5625, 1991
13. 1A calcium channel reflect similarities to neuronal Q-and P-type channels. Proc Natl Acad Sei USA 91:10576-10580, 1994
14. BOURINET E, SOONG TW, SUTTON K, SLAYMAKER S, MATIIEWS E, MONTEIL A, ZAMPONI GW, NARGEOT J, SNUTCII TP: Splicing of the a,A subunit gene generates phenotypic variants of P- and Q-type calcium channels. Nature Neurosci 2:407-415, 1999
15. WESTENBROEK RE, HELL JW, WARNER C, DUBEL SJ, SNUTCII TP, CATTERALL WA: Biochemical properties and subcellular distribution of an N-type calcium channel ctl subunit. Neuron 9:1099-1115, 1992
16. DuBEL SJ, STARR TNB, HELL J, AHLIJANIAN MK, ENYEART JJ, CATTERALL WA, SNUTCII TP: Molecular cloning of the α-1 subunit of an ω-conotoxin-sensitive calcium channel. Proc Natl Acad Sei USA 89:5058-5062, 1989
17. WILLIAMS ME, BRUST PF, FELDMAN DH, PATTHI S, SIMERSON S, MAROUFI A, McCuE AF, VELICELEBI G, ELLIS SB, HARPOLD MM: Structure and functional expression of an io-conotoxin-sensitive human N-type calcium channel. Science 257:389-395, 1992
18. 2+ channels: Role in channel function. Trends Neurosci 21:148-154, 1993
19. CHOI DW: Calcium-mediated neurotoxicity: Relationship to specific channel types and role in ischemie damage. Trends Neurosci 11:465-469, 1988
20. KOH JY, COTMAN CW: Programmed cell death: Its possible contribution to neurotoxicity mediated by calcium channel antagonists. Brain Res 587:233-240, 1992
21. 2+ determine nerve growth factor dependence of sympathetic ganglion cells. Proc Natl Acad Sei USA 86:6421-6425, 1989
22. MCCASLIN PP, SMITH TG: Low calcium-induced release of glutamate results in autotoxicity of cerebellar granule cells. Brain Res 53:280-285, 1990
23. SCHMITZ Y, WITZOVSKY P: Dependence of photoreceptor glutamate release on a dihydropyridine-sensitive calcium channel. Neuroscience 78:1209-1216, 1997
24. MINTZ IM, ADAMS ME, BEAN BP: P-type calcium channels in rat central and peripheral neurons. Neuron 9:85-95, 1992
25. 2+ channel gene CACNL1A4. Cell 87:543-552, 1996
26. FujiTA Y, MvNLiEFF M, DiRKSEN RT, KIM M-S, NIIDOMET, NAKAI J, FRIEDRICH T, IWABE N, MIYATA T, FURUICIII T, FURUTAMA D, MiKOSHIBA K, MORI Y, BEAM KG: Primary structure and functional expression of the ω-conotoxin-sensitive N-typc calcium channel from rabbit brain. Neuron 10:585-598, 1993
27. 2+ channel kinetics. J Biol Chem 273:5586-5590, 1998
28. 1A calcium channel subunit linked to familial hemiplegie migraine. J Ncurosci 19:1610-1619, 1999
29. YUE Q, JEN JC, THWE MM, NELSON SF, BALOII RW: De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. Am J Med Genet 77:298-301, 1998
30. 1A-voltage-dependent calcium channel. Nat Genet 15:62-69, 1997
31. GESCHWIND DH, PERLMAN S, FIGUEROA KP, KARRIM J, BALOII RW, PULST SM: Spinocerebellar ataxia type 6: Frequency of the mutation and genotype-phenotype correlations. Neurology 49:1247-1251, 1997
32. JODICE C, MANTUANO E, VENEZIANO L, TRETTEL F, SABBADINI G, CALANDRIELLO L, FRANCIA A, SPADARO M, PIERELLI F, SALVI F, OPHOFF RA, FRANTS RR, FRONTALI M: Episodic ataxia type 2 (EA2) and Spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Molec Genet 6:1973-1978, 1997
33. YUE Q, JEN JC, NELSON SF, BALOII RW: Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet 61:1078-1087, 1997
34. NOEBELS JL: A single gene error of noradrenergic axon growth synchronizes central neurones. Nature 310:409-411, 1984
35. HESS EJ, WILSON MC: Tottering and leaner mutations perturb transient developmental expression of tyrosine hydroxylase in embryologically distinct Purkinje cells. Neuron 6:123-132, 1991
36. FLETCIIER CF, LUTZ CM, O'SULLIVAN TN, SHAUGHNESSY JD JR, HAWKES R, FRANKEL WN, COPELAND NO, JENKINS N: Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 87:607-617, 1996
37. DOYLE J, REN X, LENNON G, STUBBS L: Mutations in the Cacnlla4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Mninin Genome 8:113-120, 1997
38. WAKAMORI M, YAMAZAKI K, MATSUNODAIRA H, TERAMOTO T, TANAKA I, NlIDOME T, SAWADA K, NlSIIIZAWA Y, SEKIGUCHI N, MoRI E, MORI Y, IMOTO K: Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J Biol Cliem 273:34857-34867, 1998
39. HERRUP K, WILCZYNSKI SL: Cerebellar cell degeneration in the leaner mutant mouse. Neuroscience 7:2185-2196, 1982
40. HECKROTII JA, ABBOTT LC: Purkinje cell loss from alternating sagittal zones in the cerebellum of leaner mutant mice. Brain Res 658:93-104, 1994
41. DOVE LS, ABBOTT LC, GRIFFITH WH: Whole-cell and single-channel analysis of P-type calcium currents in cerebellar Purkinje cells of leaner mutant mice. J Ncurosci 18:7687-7699, 1998
42. LORENZON NM, LUTZ CM, FRANKEL MN, BEAM KG: Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner. J Neurosci 18:4482-4489, 1998
43. SIDMAN RL, GREEN MC, APPEL SH: Catalog of Neurological Mutants of the Mouse. Cambridge, The Harvard University Press, 1965
44. DUNG HC, SWIGART RH: Histo-pathologic observations of the nervous and lymphoid tissues of the 'lethargic' mutant mouse. Tex Rep Biol Med 30:23-39, 1972
45. 2+ channel β subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell 88:385-392, 1997
46. McENERY MW, COPELAND TD, VANCE CL: Altered expression and assembly of N-type calcium channel a,B and ßsubunits in epileptic lethargic (lh/lh) mouse. J Biol Client 273:21435-21438, 1998
47. NOEBELS JL, QIAO X, BRONSON RT, SPENCER C, DAVISSON MT: Stargazer: A new neurological mutant on Chromosome 15 in the mouse with prolonged cortical seizures. Epilepsy Res 7:129-135, 1990
48. 2+ channel 7 subunit. Nat Genet 19:340-347, 1998
49. Rios E, DRUM G: Involvement of dihydropyridine receptors in excitation-contraction coupling in skeletal muscle. Nature 325:717720, 1987
50. JURKAT-ROTT K, LEHMANN-HORN F, ELBAZ A, HEINE R, GREGG RG, HOGAN K, POWERS P, LAPIE P, VALE-SANTOS JE: A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 56:374-380, 1994
51. PFACEK LJ, TAWIL R, GRIGGS RC, ENGEL AG, LAYZER RB, KWIECINSKI H, McMANis PG, SANTIAGO L, MOORE M, FOUAD G, BRADLEY P, LEPPERT MF: Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 77:863-868, 1994
52. FOUAD G, DALAKAS M, SERVIDEI S, MENDELL JR, VAN DEN BERGH P, ANGELINI C, ALDERSON K, GRIGGS RC, TAWIL R, GREGG R, HOGAN K, POWERS PA, WEINBERG N, MALONEE W, PFACEK LJ: Genotype-phenotype correlations of DHP receptor otl-subunit gene mutations causing hypokalemic periodic paralysis. Neuroimisatl Disord 7:33-38, 1997
53. JURKAT-ROTT K, OETZ U, PlKA-HARTLAUB U, POWELL J, FONTAINE B, MELZER W, LEHMANN-HORN F: Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor al subunits (R528H). FEBS Lett 423:198-204,1998
54. MORRILL JA, BROWN RH JR, CANNON SC: Gating of the L-type Ca channel in human skeletal myotubes: An activation defect caused by the hypokalemic periodic paralysis mutation R528H.J Netirosci 18:10320-10334, 1998
55. 1s subunit as expressed in mouse L cells. FEBS Lett 382:244-248, 1996
56. LERCHE H, KLUGBAUER N, LEHMANN-HORN F, HOFMANN F, MELZER W: Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalemic periodic paralysis. Pfliigcrs Arch 431:461-463, 1996
57. GONZALEZ A, NAKAI J, BEAM K: IVS4 mutations which alter inactivation of the skeletal L-type calcium channel without affecting activation. Biophys J 70:A128, 1996
58. RUDEL R, LEHMANN-HORN F, RICKER K, KUTIIER G: Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters. Muscle Nerve 7:110-120, 1984
59. 2+ regulation defects. Physiol Rev 76:537-592, 1996
60. 2+ release channels. Am J Ated 104:470-486, 1998
61. MONNIER N, PROCACCIO V, STIEGLITZ P, LUNARDI J: Malignanthyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridinc-scnsitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 60:1316-1325, 1997
62. CENSIER K, URWYLER A, ZORZATO F, TREVES S: Intraccllular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. J Clin Invest 101:1233-1242, 1998
63. RICHTER M, SCHLEITHOFF L, DEUFEL T, LEHMANN-HORN F, HERRMANN-FRANK A: Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J Biol Cliem 272:5256-5260, 1997
64. 2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/ or central core disease. J Biol Cliem 272:26332-26339, 1997