A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx

Maria Isabel Bahamonde; Selma Angèlica Serra; Oliver Drechsel; Rubayte Rahman; Anna Marcé-Grau; Marta Prieto; Stephan Ossowski; Alfons Macaya; José M. Fernández-Fernández

doi:10.1371/journal.pone.0146035

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Research Article

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of Ca_V2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca²⁺ Influx

Maria Isabel Bahamonde ,

Contributed equally to this work with: Maria Isabel Bahamonde, Selma Angèlica Serra

Affiliation Laboratori de Fisiologia Molecular i Canalopaties, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
⨯
Selma Angèlica Serra ,

Contributed equally to this work with: Maria Isabel Bahamonde, Selma Angèlica Serra

Affiliation Laboratori de Fisiologia Molecular i Canalopaties, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
⨯
Oliver Drechsel,

Affiliations Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain, Universitat Pompeu Fabra, Barcelona, Spain
⨯
Rubayte Rahman,

Affiliations Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain, Universitat Pompeu Fabra, Barcelona, Spain
⨯
Anna Marcé-Grau,

Affiliation Pediatric Neurology Research Group, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain
⨯
Marta Prieto,

Affiliation Laboratori de Fisiologia Molecular i Canalopaties, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
⨯
Stephan Ossowski,

Affiliations Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain, Universitat Pompeu Fabra, Barcelona, Spain
⨯
Alfons Macaya ,

¶‡ AM and JMF-F are joint senior authors on this work.

Affiliation Pediatric Neurology Research Group, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain
⨯
José M. Fernández-Fernández

* E-mail: jmanuel.fernandez@upf.edu

¶‡ AM and JMF-F are joint senior authors on this work.

Affiliation Laboratori de Fisiologia Molecular i Canalopaties, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
⨯

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of Ca_V2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca²⁺ Influx

Maria Isabel Bahamonde,
Selma Angèlica Serra,
Oliver Drechsel,
Rubayte Rahman,
Anna Marcé-Grau,
Marta Prieto,
Stephan Ossowski,
Alfons Macaya,
José M. Fernández-Fernández

Published: December 30, 2015
https://doi.org/10.1371/journal.pone.0146035

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