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.
Authors
- Paul Pavlidis (ORCID: https://orcid.org/0000-0002-0426-5028)
- Shamsuddin A. Bhuiyan (ORCID: https://orcid.org/0000-0003-3260-600X)
- Manuel Belmadani (ORCID: https://orcid.org/0000-0002-5820-5979)
- Terrance P. Snutch (ORCID: https://orcid.org/0000-0001-5182-1296)
- Jordan Sicherman (ORCID: https://orcid.org/0000-0001-8160-4567)
- John R. Tyson (ORCID: https://orcid.org/0000-0002-6295-3929)
Institutions
- University of British Columbia (CA)
- Canada's Michael Smith Genome Sciences Centre (CA)
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