(Q40763673)

23 September 2017

title

Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia (English)

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23 September 2017

main subject

episodic ataxia type 2

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Edwin Wappl

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23 September 2017

Alexandra Koschak

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23 September 2017

Michael Poteser

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23 September 2017

Martina J Sinnegger

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23 September 2017

Doris Walter

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23 September 2017

Andreas Eberhart

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23 September 2017

Klaus Groschner

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23 September 2017

Hartmut Glossmann

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23 September 2017

Richard L Kraus

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23 September 2017

Manfred Grabner

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23 September 2017

Jörg Striessnig

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23 September 2017

language of work or name

English

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publication date

12 December 2001

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Journal of Biological Chemistry

23 September 2017

published in

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23 September 2017

volume

277

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23 September 2017

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23 September 2017

page(s)

6960-6966

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The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

23 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110948200

The inherited episodic ataxias: how well do we understand the disease mechanisms?

21 January 2018

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Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene

21 January 2018

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Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.M110948200

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

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Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics

21 January 2018

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Structure and function of neuronal Ca2+ channels and their role in neurotransmitter release

21 January 2018

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Roles of N-type and Q-type Ca2+ channels in supporting hippocampal synaptic transmission

21 January 2018

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P-type calcium channels blocked by the spider toxin ω-Aga-IVA

21 January 2018

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Crosstalk between G proteins and protein kinase C mediated by the calcium channel alpha1 subunit.

21 January 2018

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Modulation of voltage-dependent calcium channels by G proteins

21 January 2018

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Modulation of Ca2+ channels by G-protein beta gamma subunits

21 January 2018

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Absence epilepsy in tottering mutant mice is associated with calcium channel defects

21 January 2018

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Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

21 January 2018

1 reference

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Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110948200

alpha 1D (Cav1.3) subunits can form l-type Ca2+ channels activating at negative voltages

21 January 2018

1 reference

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Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels

21 January 2018

1 reference

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Functional messenger RNAs are produced by SP6in vitrotranscription of cloned cDNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110948200

Estimating the number of channels in patch-clamp recordings: application to kinetic analysis of multichannel data from voltage-operated channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110948200

Removing non-random artifacts from patch clamp traces

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110948200

Mechanism of dihydropyridine interaction with critical binding residues of L-type Ca2+ channel alpha 1 subunits.

21 January 2018

1 reference

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Beta subunit heterogeneity in neuronal L-type Ca2+ channels

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110948200

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110948200

De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110948200

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110948200

Calcium channel β-subunit binds to a conserved motif in the I–II cytoplasmic linker of the α1-subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110948200

21 January 2018

Identifiers

DOI

10.1074/JBC.M110948200

1 reference

23 September 2017

1 reference