Multiple Genetic Analysis Unravels Pseudoexon in ATP7B in a Patient with Clinically Diagnosed Wilson Disease
- 10 November 2025
- journal article
- Published by Wiley in Movement Disorders Clinical Practice
- Vol. 13 (4) , 1092-1095
Abstract
No abstract availableKeywords
Funding Information
- Japan Agency for Medical Research and Development (JP24ek0109672)
This publication has 8 references indexed in Scilit:
- Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson DiseaseCellular and Molecular Gastroenterology and Hepatology, 2024
- Clinical characteristics and pathophysiological properties of newly discovered LRRK2 variants associated with Parkinson's diseaseNeurobiology of Disease, 2024
- Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegenerationScientific Reports, 2024
- Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemiaMolecular Therapy Nucleic Acids, 2023
- Differential exon usage of developmental genes is associated with deregulated epigenetic marksScientific Reports, 2023
- Pseudoexons of the DMD GeneJournal of Neuromuscular Diseases, 2020
- Wilson diseaseNature Reviews Disease Primers, 2018
- An Apparent Pseudo-Exon Acts both as an Alternative Exon That Leads to Nonsense-Mediated Decay and as a Zero-Length ExonMolecular and Cellular Biology, 2006