Associated Papers
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
Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases.
Chen S et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2024
Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genome.
Petersen USS et al.
Human Mutation, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S3
hnRNP A1 in RNA metabolism regulation and as a potential therapeutic target.
Feng J et al.
Frontiers in Pharmacology, 2022
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S3
Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.
Bruun GH et al.
Bmc Biology, 2016
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
Palhais B et al.
Nucleic Acids Research, 2015
Role of an SNP in Alternative Splicing of Bovine NCF4 and Mastitis Susceptibility.
Ju Z et al.
Plos One, 2015
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Zampieri S et al.
European Journal of Human Genetics : Ejhg, 2011
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.
Homolova K et al.
Human Mutation, 2010
Deeper understanding of unclassified intronic variants and ESEs.
Rogan PK
Human Mutation, 2010
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
Zavadáková P et al.
Human Mutation, 2005
Functional SNPs of INCENP Affect Semen Quality by Alternative Splicing Mode and Binding Affinity with the Target Bta-miR-378 in Chinese Holstein Bulls.
Liu J et al.
Plos One, 0
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