Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders [PDF]
Experimental and Molecular MedicineEffective translation of rare disease diagnosis knowledge into therapeutic applications is achievable within a reasonable timeframe; where mutations are amenable to current antisense oligonucleotide technology.
Htoo A. Wai +7 more
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Aberrant splicing exonizes C9orf72 repeat expansion in ALS/FTD. [PDF]
Nat NeurosciYang S +10 more
europepmc +3 more sources
Aberrant splicing in human cancer: An RNA structural code point of view. [PDF]
Front Pharmacol, 2023 Apostolidi M, Stamatopoulou V.
europepmc +3 more sources
Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay. [PDF]
Front GenetPan F +11 more
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Background splicing as a predictor of aberrant splicing in genetic disease [PDF]
RNA Biology, 2022 Mutations of splice sites, auxiliary splicing elements and the splicing machinery cause a wide range of genetic disease. Here we report that many of the complex effects of splicing mutations can be predicted from background splicing information, with emphasis on BRCA1, BRCA2 and DMD.
D. Alexieva +8 more
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Restoration of correct splicing in IVSI-110 mutation of β-globin gene with antisense oligonucleotides: implications and applications in functional assay development [PDF]
Iranian Journal of Basic Medical Sciences, 2017 Objective(s): The use of antisense oligonucleotides (AOs) to restore normal splicing by blocking the recognition of aberrant splice sites by the spliceosome represents an innovative means of potentially controlling certain inherited disorders affected by
Sima Mansoori Derakhshan +1 more
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Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. [PDF]
PLoS ONE, 2017 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.
Wen-Hsin Chang +5 more
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Aberrant RNA Splicing in Cancer [PDF]
Annual Review of Cancer Biology, 2019 RNA splicing, the enzymatic process of removing segments of premature RNA to produce mature RNA, is a key mediator of proteome diversity and regulator of gene expression. Increased systematic sequencing of the genome and transcriptome of cancers has identified a variety of means by which RNA splicing is altered in cancer relative to normal cells ...
Luisa, Escobar-Hoyos +2 more
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Alteration of introns in a hyaluronan synthase 1 (HAS1) minigene convert Pre-mRNA [corrected] splicing to the aberrant pattern in multiple myeloma (MM): MM patients harbor similar changes. [PDF]
PLoS ONE, 2013 Aberrant pre-mRNA splice variants of hyaluronan synthase 1 (HAS1) have been identified in malignant cells from cancer patients. Bioinformatic analysis suggests that intronic sequence changes can underlie aberrant splicing.
Jitra Kriangkum +3 more
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The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome
Frontiers in Medicine, 2022 X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.
Tomohiko Yamamura +6 more
doaj +1 more source