Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression

Journal of Neurochemistry

Volumn 96, Issue 6, 2006, Pages 1648-1658

  Hoda, Jean Charles ^a   Zaghetto, Francesca ^a,b   Singh, Anamika ^a   Koschak, Alexandra ^a   Striessnig, Jörg ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

Channelopathies; Congenital stationary night blindness; Genetic diseases; Missense mutations; Voltage gated Ca2+ channels

Indexed keywords

CALCIUM CHANNEL L TYPE; PROTEIN SUBUNIT;

ANIMAL CELL; ARTICLE; CELL LINE; CHANNEL GATING; CONGENITAL BLINDNESS; CONTROLLED STUDY; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HETEROLOGOUS EXPRESSION; MAMMAL CELL; MISSENSE MUTATION; NIGHT BLINDNESS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; XENOPUS LAEVIS;

ANIMALS; CALCIUM CHANNELS, L-TYPE; CALCIUM SIGNALING; CELL LINE; FEMALE; GENE EXPRESSION REGULATION; HUMANS; ION CHANNEL GATING; MEMBRANE POTENTIALS; MUTATION, MISSENSE; NIGHT BLINDNESS; OOCYTES; PHOTORECEPTORS, VERTEBRATE; PHOTOTRANSDUCTION; TEMPERATURE; VISION; XENOPUS LAEVIS;

ANIMALIA; MAMMALIA; XENOPUS LAEVIS;

EID: 33644791422     PISSN: 00223042     EISSN: 14714159     Source Type: Journal    
DOI: 10.1111/j.1471-4159.2006.03678.x     Document Type: Article

References (33)

1. Barnes S. Kelly ME. 2002 Calcium channels at the photoreceptor synapse AdvExpMedBiol 514 465 476
2. Bech-Hansen NT. Naylor MJ. Maybaum TA. Pearce WG. Koop B. Fishman GA. Mets M. Musarella MA. Boycott KM. 1998 Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness NatGenet 19 264 267
3. Boycott KM. Pearce WG. Bech-Hansen NT. 2000 Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F CanJOphthalmol 35 204 213
4. Boycott KM. Maybaum TA. Naylor MJ. Weleber RG. Robitaille J. Miyake Y. Bergen AA. Pierpont ME. Pearce WG. Bech-Hansen NT. 2001 A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants HumGenet 108 91 97
5. Castellano A. Wei X. Birnbaumer L. Perez-Reyes E. 1993 Cloning and expression of a third calcium channel beta subunit JBiolChem 268 3450 3455
6. Denning GM. Anderson MP. Amara JF. Marshall J. Smith AE. Welsh MJ. 1992 Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive Nature 358 761 764
7. Doering CJ. Hamid J. Simms BA. McRory JE. Zamponi GW. 2005 Cav1.4 encodes a calcium channel with low open probability and unitary conductance BiophysJ 89 3042 3048
8. Ellis SB. Williams ME. Ways NR. et al. 1988 Sequence and expression of mRNAs encoding the alpha1 and alpha2 subunits of a DHP-sensitive calcium channel Science 241 1661 1664
9. Firth SI. Morgan IG. Boelen MK. Morgans CW. 2001 Localization of voltage-sensitive 1-type calcium channels in the chicken retina ClinExpOphthalmol 29 183 187
10. Gong Q. Anderson CL. January CT. Zhou Z. 2004 Pharmacological rescue of trafficking defective HERG channels formed by coassembly of wild-type and long QT mutant N470D subunits AmJPhysiolHeart CircPhysiol 287 H652 H658
11. Hans M. Luvisetto S. Williams ME. et al. 1999 Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine JNeurosci 19 1610 1619
12. Hemara-Wahanui A. Berjukow S. Hope CI. et al. 2005 A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation ProcNatl AcadSciUSA 102 7553 7558
13. Hess P. Lansman JB. Tsien RW. 1986 Calcium channel selectivity for divalent and monovalent cations. Voltage and concentration dependence of single channel current in ventricular heart cells JGenPhysiol 88 293 319
14. 2+ channels JNeurosci 25 252 259
15. Horton RM. Hunt HD. Ho SN. Pullen JK. Pease LR. 1989 Engineering hybrid genes without the use of restriction enzymes: gene splicing by overlap extension Gene 77 61 68
16. 2+ antagonist binding properties and putative folding structure of a recombinant high affinity dihydropyridine binding domain BiochemJ 347 829 836
17. Jacobi FK. Hamel CP. Arnaud B. Blin N. Broghammer M. Jacobi PC. Apfelstedt-Sylla E. Pusch CM. 2003 A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness AmJOphthalmol 135 733 736
18. 2+-dependent inactivation JNeurosci 23 6041 6049
19. 2+ channel kinetics JBiolChem 273 5586 5590
20. van den Maagdenberg AM. Pietrobon D. Pizzorusso T. et al. 2004 A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression Neuron 41 701 710
21. Mansergh F. Orton NC. Vessey JP. Lalonde MR. Stell WK. Tremblay F. Barnes S. Rancourt DE. Bech-Hansen NT. 2005 Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina HumMolGenet 14 3035 3046
22. McRory JE. Hamid J. Doering CJ. et al. 2004 The CACNA1F gene encodes an 1-type calcium channel with unique biophysical properties and tissue distribution JNeurosci 24 1707 1718
23. Morgans CW. 2000 Neurotransmitter release at ribbon synapses in the retina ImmunolCell Biol 78 442 446
24. 2+ channel gating: evidence for beta-subunit isoform-specific effects JBiolChem 279 51 844 51 850
25. Nakamura M. Ito S. Terasaki H. Miyake Y. 2001 Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness InvestOphthalmolVisSci 42 1610 1616
26. Pietrobon D. Striessnig J. 2003 Neurobiology of migraine NatRevNeurosci 4 386 398
27. Safayhi H. Haase H. Kramer U. Bihlmayer A. Roenfeldt M. Ammon HP. Froschmayr M. Cassidy TN. Morano I. Ahlijanian M. Striessnig J. 1997 1-Type calcium channels in insulin-secreting cells: biochemical characterization and phosphorylation in RINm5F cells MolEndocrinol 11 619 629
28. Splawski I. Timothy KW. Sharpe LM. et al. 2004 Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism Cell 119 19 31
29. Strom TM. Nyakatura G. Apfelstedt-Sylla E. et al. 1998 An 1-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness NatGenet 19 260 263
30. 2+ influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons ProcNatl AcadSciUSA 99 13 284 13 289
31. Wan J. Khanna R. Sandusky M. Papazian DM. Jen JC. Baloh RW. 2005 CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics Neurology 64 2090 2097
32. Wutz K. Sauer C. Zrenner E. et al. 2002 Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina EurJHumGenet 10 449 456
33. v1.3alpha(1) L-type channels activate at relatively hyperpolarized membrane potentials and are incompletely inhibited by dihydropyridines JNeurosci 21 5944 5951