ReviewJournal of inherited metabolic disease2010
Present and future of antisense therapy for splicing modulation in inherited metabolic disease.
Review in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 45 citations in OpenAlex.
- Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy.Frontiers in neurology · 2026Review
- Exploring RNA therapeutics for urea cycle disorders.Journal of inherited metabolic disease · 2024Review
- PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.Human molecular genetics · 2024Article
- Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Review
- A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T.The Journal of clinical investigation · 2023Article
- Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.International journal of molecular sciences · 2022Article
- Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.Nucleic acid therapeutics · 2022Article
- Antisense oligonucleotide gapmers containing phosphoryl guanidine groups reverse MDR1-mediated multiple drug resistance of tumor cells.Molecular therapy. Nucleic acids · 2022Article
- Intronic variants in inborn errors of metabolism: Beyond the exome.Frontiers in genetics · 2022Article
- Mouse germ line mutations due to retrotransposon insertions.Mobile DNA · 2019Review
- Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine.Experimental and therapeutic medicine · 2017Article
- Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.Human molecular genetics · 2016Article
- Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.Journal of endocrinological investigation · 2015Article
- 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.Nucleic acids research · 2015Article
- Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.PloS one · 2015Article
- A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver.Molecular therapy. Nucleic acids · 2014Article
- QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.World journal of pediatrics : WJP · 2014Article
- Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.Nucleic acid therapeutics · 2014Review
- Pre-mRNA splicing in disease and therapeutics.Trends in molecular medicine · 2012Review
- Genetically modified pigs for biomedical research.Journal of inherited metabolic disease · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The number of mutations identified deep in introns which activate or create novel splice sites resulting in pathogenic pseudoexon inclusion in mRNA continues to grow for inherited metabolic disease (IMD) and other human genetic diseases. A common characteristic is that the native splice sites remain intact thus retaining the potential for normal splicing. Antisense oligonucleotides (AO) have been shown to modulate the splicing pattern by steric hindrance of the recognition and binding of the splicing apparatus to the selected sequences. In the case of pseudoexons, AO force the use of the natural splice sites, recovering normally spliced transcripts encoding functional protein. This review summarizes the present knowledge of antisense splicing modulation as a molecular therapy approach for pseudoexon-activating mutations, with a focus in IMD. Although the feasibility of treatment for patients with IMD has yet to be proven, it appears to be clinically promising, as positive results have been reported in cellular and animal models of disease, and antisense therapy for splicing modulation is currently in the clinical trials phase for Duchenne muscular dystrophy patients. Here, we review the most recent advances in AO stability, targeting and delivery, and other issues to be considered for an effective treatment in the clinical setting. Although the number of patients who can be potentially treated is low for each IMD, it represents an excellent therapeutical option as a type of personalized molecular medicine which is especially relevant for diseases for which there is, to date, no efficient treatment.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.