Primary structure and functional expression from complementary DNA of a brain calcium channel

Mori, Yasuo; Friedrich, Thomas; Kim, Man Suk; Mikami, Atsushi; Nakai, Junichi; Ruth, Peter; Bosse, Eva; Hofmann, Franz; Flockerzi, Veit; Furuichi, Teiichi; Mikoshiba, Katsuhiko; Imoto, Keiji; Tanabe, Tsutomu; Numa, Shosaku

doi:10.1038/350398a0

Cited by 824 publications

(539 citation statements)

References 34 publications

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“…Mature X. laevis female frogs were from Nasco (Wisconsin, USA). The ~A subunit (pSPCBI-2) was from Mori et al [6] and thefll ~ clone from Pragnell et al [25].…”

Section: Methodsmentioning

confidence: 99%

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Identification of critical amino acids involved in α₁‐β interaction in voltage‐dependent Ca²⁺ channels

et al. 1996

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In voltage-dependent Ca 2+ channels, the al and subunits interact via two cytoplasmic regions defined as the Alpha Interaction Domain (AID) and Beta Interaction Domain (BID). Several novel amino acids for that interaction have now been mapped in both domains by point mutations. It was found that three of the nine amino acids in AID and four of the eight BID amino acids tested were essential for the interaction. Whereas the important AID amino acids were clustered around five residues, the important BID residues were more widely distributed within a larger 16 amino acid sequence. The affinity of the AID A GST fusion protein for the four interacting/]lb BID mutants was not significantly altered compared with the wild-type ~b despite the close localization of mutated residues to disruptive BID amino acids. Expression of these interactive S] mutants with the fulllength OLIA subunit only slightly modified the stimulation efficiency when compared with the wild-type ~b subunit. Our data suggest that non-disruptive BID sequence alterations do not dramatically affect the/] subunit-induced current stimulation.

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“…Mature X. laevis female frogs were from Nasco (Wisconsin, USA). The ~A subunit (pSPCBI-2) was from Mori et al [6] and thefll ~ clone from Pragnell et al [25].…”

Section: Methodsmentioning

confidence: 99%

“…Both domains determine the attachment of the fl subunit to the c~ 1 channel. This linkage is required for the observed 13 subunit regulation of the current properties of the C~l subunit, that is the increase in current amplitude [6][7][8][9][10] and the modifications in kinetics and voltage dependence of the channel [11][12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Identification of critical amino acids involved in α₁‐β interaction in voltage‐dependent Ca²⁺ channels

et al. 1996

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“…Calcium channels transiently expressed from cRNA of CaCh4 induce high-voltage-activated calcium currents that are insensitive to nifedipine and o-conotoxin but are inhibited by a mixture of toxins from the funnel web spider that characterize this channel as a P-type calcium channel (Mori et al 1991).…”

Section: The a Subunitmentioning

confidence: 99%

Tissue-specific expression of calcium channels

Hullin¹,

Biel²,

Flockerzi³

et al. 1993

Trends in Cardiovascular Medicine

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“…The gene codes for the α 1A pore‐forming subunit of Ca 2+ voltage‐gated Cav2.1 channels and is widely expressed throughout the central nervous system (CNS) (Mori et al. 1991; Westenbroek et al. 1995).…”

Section: Introductionmentioning

confidence: 99%

Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

Maksemous

Roy

Smith

et al. 2016

Molec Gen & Gen Med

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Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo, and episodes of ataxia lasting minutes to hours. EA2 is caused most often by loss of function mutations of the calcium channel gene CACNA1A. In addition to EA2, mutations in CACNA1A are responsible for two other allelic disorders: familial hemiplegic migraine type 1 (FHM1) and spinocerebellar ataxia type 6 (SCA6). Herein, we have utilized next‐generation sequencing (NGS) to screen the coding sequence, exon‐intron boundaries, and Untranslated Regions (UTRs) of five genes where mutation is known to produce symptoms related to EA2, including CACNA1A. We performed this screening in a group of 31 unrelated patients with EA2 symptoms. Both novel and known mutations were detected through NGS technology, and confirmed through Sanger sequencing. Genetic testing showed in total 15 mutation bearing patients (48%), of which nine were novel mutations (6 missense and 3 small frameshift deletion mutations) and six known mutations (4 missense and 2 nonsense).These results demonstrate the efficiency of our NGS‐panel for detecting known and novel mutations for EA2 in the CACNA1A gene, also identifying a novel missense mutation in ATP1A2 which is not a normal target for EA2 screening.

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Primary structure and functional expression from complementary DNA of a brain calcium channel

Cited by 824 publications

References 34 publications

Identification of critical amino acids involved in α₁‐β interaction in voltage‐dependent Ca²⁺ channels

Identification of critical amino acids involved in α₁‐β interaction in voltage‐dependent Ca²⁺ channels

Tissue-specific expression of calcium channels

Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

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Primary structure and functional expression from complementary DNA of a brain calcium channel

Cited by 824 publications

References 34 publications

Identification of critical amino acids involved in α1‐β interaction in voltage‐dependent Ca2+ channels

Identification of critical amino acids involved in α1‐β interaction in voltage‐dependent Ca2+ channels

Tissue-specific expression of calcium channels

Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

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Product

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Identification of critical amino acids involved in α₁‐β interaction in voltage‐dependent Ca²⁺ channels

Identification of critical amino acids involved in α₁‐β interaction in voltage‐dependent Ca²⁺ channels