ArticlePloS one2017
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 16 citations in OpenAlex.
- A puzzling case of left ventricular hypertrophy in an elderly man.Journal of geriatric cardiology : JGC · 2026Article
- Concurrent fabry disease and monoclonal gammopathy of renal significance: a case report.BMC nephrology · 2026Article
- The role of quantitative cardiovascular MRI and late gadolinium enhancement patterns in differentiating late-onset Anderson-Fabry disease (c.640-801G > A) from hypertrophic cardiomyopathy: a case-control study.International journal of cardiology. Heart & vasculature · 2026Article
- Invention of an oral medication for cardiac Fabry disease caused by RNA mis-splicing.Science advances · 2025Article
- All reported non-canonical splice site variants in GLA cause aberrant splicing.Clinical and experimental nephrology · 2023Article
- Late-onset and classic phenotypes of Fabry disease in males with theOpen heart · 2023Article
- High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).Journal of clinical medicine · 2021Article
- Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.Molecular genetics and metabolism reports · 2021Article
- Unexplored regulatory sequences of divergently pairedExperimental and therapeutic medicine · 2021Article
- The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.Journal of human genetics · 2020Article
- NONO and tumorigenesis: More than splicing.Journal of cellular and molecular medicine · 2020Review
- The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.Journal of clinical medicine · 2019Article
- Alternative splicing in human cancer cells is modulated by the amiloride derivative 3,5-diamino-6-chloro-N-(N-(2,6-dichlorobenzoyl)carbamimidoyl)pyrazine-2-carboxide.Molecular oncology · 2019Article
- A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.Frontiers in genetics · 2019Article
- Fabry disease in a Japanese population-molecular and biochemical characteristics.Molecular genetics and metabolism reports · 2018Article
- "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.Journal of inherited metabolic disease · 2018Review
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While a base substitution in intron 4 of GLA (IVS4+919G>A) that causes aberrant alternative splicing resulting in Fabry disease has been reported, its molecular mechanism remains unclear. Here we reported that upon IVS4+919G>A transversion, H3K36me3 was enriched across the alternatively spliced region. PSIP1, an adapter of H3K36me3, together with Hsp70 and NONO were recruited and formed a complex with SF2/ASF and SRp20, which further promoted GLA splicing. Amiloride, a splicing regulator in cancer cells, could reverse aberrant histone modification patterns and disrupt the association of splicing complex with GLA. It could also reverse aberrant GLA splicing in a PP1-dependant manner. Our findings revealed the alternative splicing mechanism of GLA (IVS4+919G>A), and a potential treatment for this specific genetic type of Fabry disease by amiloride in the future.
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