ReviewHuman molecular genetics2016
Gene-targeting pharmaceuticals for single-gene disorders.
Review in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed, 39 citations in OpenAlex.
- Novel epigenetic molecular therapies for imprinting disorders.Molecular psychiatry · 2023Review
- Microinjection of antisense oligonucleotides into living mouse testis enables lncRNA function study.Cell & bioscience · 2021Article
- Gene editing with CRISPR-Cas12a guides possessing ribose-modified pseudoknot handles.Nature communications · 2021Article
- Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- The Role of Long Non-coding RNAs in Human Imprinting Disorders: Prospective Therapeutic Targets.Frontiers in cell and developmental biology · 2021Review
- Behavioral Evaluation of Angelman Syndrome Mice at Older Ages.Neuroscience · 2020Article
- Evaluation of a TrkB agonist on spatial and motor learning in theLearning & memory (Cold Spring Harbor, N.Y.) · 2020Article
- 2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations.Nature communications · 2020Article
- IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies.Advances in neurobiology · 2020Article
- An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.American journal of medical genetics. Part A · 2020Article
- Rationally Designed Anti-CRISPR Nucleic Acid Inhibitors of CRISPR-Cas9.Nucleic acid therapeutics · 2019Article
- Circadian biology and sleep in monogenic neurological disorders and its potential application in drug discovery.Current opinion in behavioral sciences · 2019Article
- Genomics in neurodevelopmental disorders: an avenue to personalized medicine.Experimental & molecular medicine · 2018Review
- Efficient RNA drug delivery using red blood cell extracellular vesicles.Nature communications · 2018Article
- Current Challenges in Delivery and Cytosolic Translocation of Therapeutic RNAs.Nucleic acid therapeutics · 2018Review
- The Combinational Use of CRISPR/Cas9 and Targeted Toxin Technology Enables Efficient Isolation of Bi-Allelic Knockout Non-Human Mammalian Clones.International journal of molecular sciences · 2018Article
- RNA biology of disease-associated microsatellite repeat expansions.Acta neuropathologica communications · 2017Review
- Overcoming cellular barriers for RNA therapeutics.Nature biotechnology · 2017Review
- DNA damage response inhibition at dysfunctional telomeres by modulation of telomeric DNA damage response RNAs.Nature communications · 2017Article
- A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.BioMedicine · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The concept of orphan drugs for treatment of orphan genetic diseases is perceived enthusiastically at present, and this is leading to research investment on the part of governments, disease-specific foundations and industry. This review attempts to survey the potential to use traditional pharmaceuticals as opposed to biopharmaceuticals to treat single-gene disorders. The available strategies include the use of antisense oligonucleotides (ASOs) to alter splicing or knock-down expression of a transcript, siRNAs to knock-down gene expression and drugs for nonsense mutation read-through. There is an approved drug for biallelic knock-down of the APOB gene as treatment for familial hypercholesterolemia. Both ASOs and siRNAs are being explored to knock-down the transthyretin gene to prevent the related form of amyloidosis. The use of ASOs to alter gene-splicing to treat spinal muscular atrophy is in phase 3 clinical trials. Work is progressing on the use of ASOs to activate the normally silent paternal copy of the imprinted UBE3A gene in neurons as a treatment for Angelman syndrome. A gene-activation or gene-specific ramp-up strategy would be generally helpful if such could be developed. There is exciting theoretical potential for converting biopharmaceutical strategies such gene correction and CRISPR-Cas9 editing to a synthetic pharmaceutical approach.
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.