Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations
Abstract
:1. Introduction
2. Results
2.1. In Silico Splicing Prediction
2.2. Corroboration of Splicing Abnormalities Due to GLA Exon 4 Mutations
2.3. Utilization of Alternative Splicing Sites as a Result of Mutations in Exons 1 and 2
3. Discussion
4. Materials and Methods
4.1. Splicing Prediction
4.2. Cell Culture
4.3. AGAL Enzyme Activity Measurement
4.4. Construction of the Minigen Reporter Vectors
4.5. Isoform-Specific PCR Assay
4.6. Agarose Gel DNA Band Analysis
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Alfen, F.; Putscher, E.; Hecker, M.; Zettl, U.K.; Hermann, A.; Lukas, J. Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations. Int. J. Mol. Sci. 2022, 23, 15261. https://doi.org/10.3390/ijms232315261
Alfen F, Putscher E, Hecker M, Zettl UK, Hermann A, Lukas J. Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations. International Journal of Molecular Sciences. 2022; 23(23):15261. https://doi.org/10.3390/ijms232315261
Chicago/Turabian StyleAlfen, Franziska, Elena Putscher, Michael Hecker, Uwe Klaus Zettl, Andreas Hermann, and Jan Lukas. 2022. "Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations" International Journal of Molecular Sciences 23, no. 23: 15261. https://doi.org/10.3390/ijms232315261