Associated Papers
RNA dysfunction in age-related macular degeneration: the role of U1 snRNP complex and neurodegenerative diseases.
Bottos JM et al.
International Journal of Retina and Vitreous, 2025
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Dijkstra AM et al.
International Journal of Neonatal Screening, 2023
Development of Engineered-U1 snRNA Therapies: Current Status.
Gonçalves M et al.
International Journal of Molecular Sciences, 2023
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity.
Kawabata K et al.
Molecular Genetics and Metabolism Reports, 2022
35800472 (PubMed )
Supplement: mmc4.docx
Mechanism underlying the regulation of sortilin expression and its trafficking function.
Ouyang S et al.
Journal of Cellular Physiology, 2020
The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.
Scalet D et al.
Journal of Human Genetics, 2018
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G et al.
Advances in Experimental Medicine and Biology, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
Bliksrud YT et al.
Journal of Molecular Medicine (berlin, Germany), 2005
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