-
1
-
-
33748372269
-
Pathomechanisms in channelopathies of skeletal muscle and brain
-
Cannon SC. Pathomechanisms in channelopathies of skeletal muscle and brain. Annu Rev Neurosci 2006; 29:387-415.
-
(2006)
Annu Rev Neurosci
, vol.29
, pp. 387-415
-
-
Cannon, S.C.1
-
2
-
-
4444226392
-
2+ channelopathies
-
2+ channelopathies. Biochem Biophys Res Comm 2004; 322:1341-1346
-
(2004)
Biochem Biophys Res Comm
, vol.322
, pp. 1341-1346
-
-
Striessnig, J.1
Hoda, J.C.2
Koschak, A.3
Zaghetto, F.4
Müllner, C.5
Sinnegger Brauns, M.J.6
Wild, C.7
Watschinger, K.8
Trockenbacher, A.9
Pelster, G.10
-
3
-
-
0036175714
-
Calcium channels and channelopathies of the central nervous system
-
Pietrobon D. Calcium channels and channelopathies of the central nervous system. Mol Neurobiol 2002; 25:31-50. (Pubitemid 34165503)
-
(2002)
Molecular Neurobiology
, vol.25
, Issue.1
, pp. 31-50
-
-
Pietrobon, D.1
-
4
-
-
0033103648
-
Functional consequences of mutations in the human α(1A) calcium channel subunit linked to familial hemiplegic migraine
-
Hans M, Luvisetto S, Williams ME, Spagnolo M, Urrutia A, Tottene A, Brust PF, Johnson EC, Harpold MM, Stauderman KA, Pietrobon D. Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. J Neurosci 1999; 19:1610-1619 (Pubitemid 29094180)
-
(1999)
Journal of Neuroscience
, vol.19
, Issue.5
, pp. 1610-1619
-
-
Hans, M.1
Luvisetto, S.2
Williams, M.E.3
Spagnolo, M.4
Urrutia, A.5
Tottene, A.6
Brust, P.F.7
Johnson, E.C.8
Harpold, M.M.9
Stauderman, K.A.10
Pietrobon, D.11
-
5
-
-
21144457360
-
v1.4 channel activation
-
DOI 10.1073/pnas.0501907102
-
Hemara Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson Wheeler J, Sharp DM, Lundon Treweek P, Clover GM, Hoda JC, Striessnig J, Marksteiner R, Hering S, Maw MA. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc Natl Acad Sci USA 2005; 102:7553-7558 (Pubitemid 40741009)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.21
, pp. 7553-7558
-
-
Hemara-Wahanui, A.1
Berjukow, S.2
Hope, C.I.3
Dearden, P.K.4
Wu, S.-B.5
Wilson-Wheeler, J.6
Sharp, D.M.7
Lundon-Treweek, P.8
Clover, G.M.9
Hoda, J.-C.10
Striessnig, J.11
Marksteiner, R.12
Hering, S.13
Maw, M.A.14
-
6
-
-
0032489525
-
2+ channel kinetics
-
DOI 10.1074/jbc.273.10.5586
-
Kraus RL, Sinnegger MJ, Glossmann H, Hering S, Striessnig J. Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics. J Biol Chem 1998; 273:5586-5590 (Pubitemid 28124027)
-
(1998)
Journal of Biological Chemistry
, vol.273
, Issue.10
, pp. 5586-5590
-
-
Kraus, R.L.1
Sinnegger, M.J.2
Glossmann, H.3
Hering, S.4
Striessnig, J.5
-
7
-
-
5344223383
-
V1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
-
DOI 10.1016/j.cell.2004.09.011, PII S0092867404008426
-
Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager Flusberg H, Priori SG, Sanguinetti MC, Keating MT. CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004; 119:19-31. (Pubitemid 39349317)
-
(2004)
Cell
, vol.119
, Issue.1
, pp. 19-31
-
-
Splawski, I.1
Timothy, K.W.2
Sharpe, L.M.3
Decher, N.4
Kumar, P.5
Bloise, R.6
Napolitano, C.7
Schwartz, P.J.8
Joseph, R.M.9
Condouris, K.10
Tager-Flusberg, H.11
Priori, S.G.12
Sanguinetti, M.C.13
Keating, M.T.14
-
8
-
-
18644364692
-
Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNAIF, the gene responsible for CSNB2
-
DOI 10.1111/j.1442-9071.2005.00987.x
-
Hope CI, Sharp DM, Hemara Wahanui A, Sissingh JI, Lundon P, Mitchell EA, Maw MA, Clover GM. Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. Clin Exp Ophthalmol 2005; 33:129-136 (Pubitemid 40662775)
-
(2005)
Clinical and Experimental Ophthalmology
, vol.33
, Issue.2
, pp. 129-136
-
-
Hope, C.I.1
Sharp, D.M.2
Hemara-Wahanui, A.3
Sissingh, J.I.4
Lundon, P.5
Mitchell, E.A.6
Maw, M.A.7
Clover, G.M.8
-
9
-
-
33644684859
-
Structural determinants of L-type channel activation in segment IIS6 revealed by a retinal disorder
-
DOI 10.1074/jbc.M507013200
-
Hohaus A, Beyl S, Kudrnac M, Berjukow S, Timin EN, Marksteiner R, Maw MA, Hering S. Structural determinants of L-type channel activation in segment IIS6 revealed by a retinal disorder. J Biol Chem 2005; 280:38471-38477 (Pubitemid 43853745)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.46
, pp. 38471-38477
-
-
Hohaus, A.1
Beyl, S.2
Kudrnac, M.3
Berjukow, S.4
Timin, E.N.5
Marksteiner, R.6
Maw, M.A.7
Hering, S.8
-
11
-
-
0032539551
-
The II-III loop of the skeletal muscle dihydropyridine receptor is responsible for the Bi-directional coupling with the ryanodine receptor
-
Grabner M, Dirksen RT, Suda N, Beam KG. The II-III loop of the skeletal muscle dihydropyridine receptor is responsible for the Bi-directional coupling with the ryanodine receptor. Proc Natl Acad Sci USA 1998; 95:1903-1908
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 1903-1908
-
-
Grabner, M.1
Dirksen, R.T.2
Suda, N.3
Beam, K.G.4
-
12
-
-
0024556150
-
Engineering hybrid genes without the use of restriction enzymes: Gene splicing by overlap extension
-
Horton RM, Hunt HD, Ho SN, Pullen JK, Pease LR. Engineering hybrid genes without the use of restriction enzymes: gene splicing by overlap extension. Gene 1989; 77:61-68
-
(1989)
Gene
, vol.77
, pp. 61-68
-
-
Horton, R.M.1
Hunt, H.D.2
Ho, S.N.3
Pullen, J.K.4
Pease, L.R.5
-
13
-
-
0019441262
-
Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches
-
DOI 10.1007/BF00656997
-
Hamill OP, Marty A, Neher E, Sakmann B, Sigworth FJ. Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Eur J Physiol 1981; 391:85-100. (Pubitemid 11012976)
-
(1981)
Pflugers Archiv European Journal of Physiology
, vol.391
, Issue.2
, pp. 85-100
-
-
Hamill, O.P.1
Marty, A.2
Neher, E.3
-
14
-
-
0025398721
-
WHAT IF. a molecular modeling and drug design program
-
DOI 10.1016/0263-7855(90)80070-V
-
Vriend G. WHAT IF: A molecular modeling and drug design program. J Mol Graph 1990; 8:52-56 (Pubitemid 20717037)
-
(1990)
Journal of Molecular Graphics
, vol.8
, Issue.1
, pp. 52-56
-
-
Vriend, G.1
-
15
-
-
27344454932
-
GROMACS: Fast, flexible, and free
-
van Der Spoel D, Lindahl E, Hess B, Groenhof G, Mark AE, Berendsen HJ. GROMACS: fast, flexible, and free. J Comput Chem 2005; 26:1701-1718
-
(2005)
J Comput Chem
, vol.26
, pp. 1701-1718
-
-
Van Der Spoel, D.1
Lindahl, E.2
Hess, B.3
Groenhof, G.4
Mark, A.E.5
Berendsen, H.J.6
-
18
-
-
0038487878
-
Voltage-gated K channels
-
Armstrong CM. Voltage-gated K channels. Sci STKE 2003; 10.
-
(2003)
Sci STKE
, vol.10
-
-
Armstrong, C.M.1
-
19
-
-
0347949636
-
Ser and Thr Residues Modulate the Conformation of Pro-Kinked Transmembrane α-Helices
-
Deupi X, Olivella M, Govaerts C, Ballesteros JA, Campillo M, Pardo L. Ser and Thr residues modulate the conformation of pro-kinked transmembrane alpha-helices. Biophys J 2004; 86:105-115 (Pubitemid 38067440)
-
(2004)
Biophysical Journal
, vol.86
, Issue.1 I
, pp. 105-115
-
-
Deupi, X.1
Olivella, M.2
Govaerts, C.3
Ballesteros, J.A.4
Campillo, M.5
Pardo, L.6
-
20
-
-
0025890946
-
Influence of proline residues on protein conformation
-
MacArthur MW, Thornton JM. Influence of proline residues on protein conformation. J Mol Biol 1991; 218:397-412.
-
(1991)
J Mol Biol
, vol.218
, pp. 397-412
-
-
MacArthur, M.W.1
Thornton, J.M.2
-
21
-
-
0036430199
-
Proline-induced distortions of transmembrane helices
-
Cordes FS, Bright JN, Sansom MS. Proline-induced distortions of transmembrane helices. J Mol Biol 2002; 323:951-960
-
(2002)
J Mol Biol
, vol.323
, pp. 951-960
-
-
Cordes, F.S.1
Bright, J.N.2
Sansom, M.S.3
-
22
-
-
0024278714
-
Helix geometry in proteins
-
Barlow DJ, Thornton JM. Helix geometry in proteins. J Mol Biol 1988; 201:601-619
-
(1988)
J Mol Biol
, vol.201
, pp. 601-619
-
-
Barlow, D.J.1
Thornton, J.M.2
-
23
-
-
0027236794
-
Structural basis of amino acid α helix propensity
-
Blaber M, Zhang XJ, Matthews BW. Structural basis of amino acid alpha helix propensity. Science 1993; 260:1637-40.å (Pubitemid 23247144)
-
(1993)
Science
, vol.260
, Issue.5114
, pp. 1637-1640
-
-
Blaber, M.1
Zhang, X.-J.2
Matthews, B.W.3
|