Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencing

Our work both provides the first long-read sequencing of Cacna1e and the first computational evaluation of Cacna1e splice variants for future follow-up. This overall strategy to provide the field with prioritized transcripts will improve our understanding of Cacna1e function, its role in disease pathophysiology, and serve as a general approach to evaluate splice variant function across multiple ion channel types.

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Publication Details

Journal
BMC Genomics
Published
2025-09-26
DOI
https://doi.org/10.1186/s12864-025-11887-1
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.00
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article

Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencing

Paul Pavlidis, Shamsuddin A. Bhuiyan, Manuel Belmadani, Terrance P. Snutch et al.
BMC Genomics
Mitochondrial Function and Pathology
article

Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencing

Paul Pavlidis, Shamsuddin A. Bhuiyan, Manuel Belmadani, Terrance P. Snutch, Jordan Sicherman, John R. Tyson
article en

Abstract

Our work both provides the first long-read sequencing of Cacna1e and the first computational evaluation of Cacna1e splice variants for future follow-up. This overall strategy to provide the field with prioritized transcripts will improve our understanding of Cacna1e function, its role in disease pathophysiology, and serve as a general approach to evaluate splice variant function across multiple ion channel types.

BMC GenomicsVol. 26(1)
University of British Columbia (CA), Canada's Michael Smith Genome Sciences Centre (CA)
Openalex Percentile: Top 77%
Mitochondrial Function and Pathology
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Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencing — Paul Pavlidis, Shamsuddin A. Bhuiyan, et al. · BMC Genomics (2025) | TGRS Research Map | TGRS