Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US et al.
Molecular Therapy. Nucleic Acids, 2024
38204914 (PubMed )
Supplement: mmc2.pdf
ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
Chokchaiwong S et al.
Cells, 2019
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease.
Wang C et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2018
Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.
Bruun GH et al.
Bmc Biology, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ et al.
American Journal of Human Genetics, 2016
27259049 (PubMed )
Supplement: mmc2.pdf
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Olsen RK et al.
Human Mutation, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Functional Landscape of hnRNPA3 in Disease Pathogenesis.
Chen F et al.
Wiley Interdisciplinary Reviews. Rna, 0
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