Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias

Mutations in the CACNA1A gene are associated with episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). CACNA1A encodes the α-subunit of the P/Q-type calcium channel or Ca(V)2.1, which is highly enriched in the cerebellum. It is one of the main channels linked to synaptic transmissi...

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Autores principales: Rajakulendran, Sanjeev, Schorge, Stephanie, Kullmann, Dimitri M, Hanna, Michael G
Formato: Texto
Lenguaje:English
Publicado: Biology Reports 2010
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948357/
https://www.ncbi.nlm.nih.gov/pubmed/20948794
http://dx.doi.org/10.3410/B2-4
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author Rajakulendran, Sanjeev
Schorge, Stephanie
Kullmann, Dimitri M
Hanna, Michael G
author_facet Rajakulendran, Sanjeev
Schorge, Stephanie
Kullmann, Dimitri M
Hanna, Michael G
author_sort Rajakulendran, Sanjeev
collection PubMed
description Mutations in the CACNA1A gene are associated with episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). CACNA1A encodes the α-subunit of the P/Q-type calcium channel or Ca(V)2.1, which is highly enriched in the cerebellum. It is one of the main channels linked to synaptic transmission throughout the human central nervous system. Here, we compare recent advances in the understanding of the genetic changes that underlie EA2 and SCA6 and what these new findings suggest about the mechanism of the disease.
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spelling pubmed-29483572010-10-14 Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias Rajakulendran, Sanjeev Schorge, Stephanie Kullmann, Dimitri M Hanna, Michael G F1000 Biol Rep Review Article Mutations in the CACNA1A gene are associated with episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). CACNA1A encodes the α-subunit of the P/Q-type calcium channel or Ca(V)2.1, which is highly enriched in the cerebellum. It is one of the main channels linked to synaptic transmission throughout the human central nervous system. Here, we compare recent advances in the understanding of the genetic changes that underlie EA2 and SCA6 and what these new findings suggest about the mechanism of the disease. Biology Reports 2010-01-18 /pmc/articles/PMC2948357/ /pubmed/20948794 http://dx.doi.org/10.3410/B2-4 Text en © 2010 Faculty of 1000 Ltd http://creativecommons.org/licenses/by-nc/3.0/legalcode This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. You may not use this work for commercial purposes
spellingShingle Review Article
Rajakulendran, Sanjeev
Schorge, Stephanie
Kullmann, Dimitri M
Hanna, Michael G
Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias
title Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias
title_full Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias
title_fullStr Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias
title_full_unstemmed Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias
title_short Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias
title_sort dysfunction of the ca(v)2.1 calcium channel in cerebellar ataxias
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948357/
https://www.ncbi.nlm.nih.gov/pubmed/20948794
http://dx.doi.org/10.3410/B2-4
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AT schorgestephanie dysfunctionofthecav21calciumchannelincerebellarataxias
AT kullmanndimitrim dysfunctionofthecav21calciumchannelincerebellarataxias
AT hannamichaelg dysfunctionofthecav21calciumchannelincerebellarataxias

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