ReviewTranslational research : the journal of laboratory and clinical medicine2019
Epigenetic therapy of Prader-Willi syndrome.
Review in Translational research : the journal of laboratory and clinical medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
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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
34 citing papers in PubMed, 50 citations in OpenAlex.
- Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.Prenatal diagnosis · 2026Article
- Oil-Coated Nanoplastics Induce Rapid Membrane Disruption and Severe Intestinal Injury.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Novel Perspectives onEpigenomes · 2026Article
- Patient advocacy group perspectives on treatment priorities and clinical trials for the rare neurodevelopmental condition, Prader-Willi syndrome.Orphanet journal of rare diseases · 2026Article
- Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.Journal of clinical laboratory analysis · 2026Article
- Disrupting the epigenetic alliance: structural insights and therapeutic strategies targeting DNMT1-UHRF1.Functional & integrative genomics · 2025Review
- EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.Molecular neurobiology · 2025Article
- G9a an Epigenetic Therapeutic Strategy for Neurodegenerative Conditions: From Target Discovery to Clinical Trials.Medicinal research reviews · 2025Review
- Epigenetic alterations in triple-negative breast cancer and their clinical implications for diagnosis and therapy.Journal of Cancer · 2025Review
- Newly developed oral bioavailable EHMT2 inhibitor as a potential epigenetic therapy for Prader-Willi syndrome.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.Orphanet journal of rare diseases · 2024Article
- Complex Cardiovascular Morbidities in Prader-Willi Syndrome: A Multidisciplinary Approach.Cureus · 2024Article
- The Pivotal Role of Oxytocin's Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder.International journal of molecular sciences · 2024Review
- Epigenetics in rare neurological diseases.Frontiers in cell and developmental biology · 2024Review
- Neurologic orphan diseases: Emerging innovations and role for genetic treatments.World journal of experimental medicine · 2023Review
- Novel epigenetic molecular therapies for imprinting disorders.Molecular psychiatry · 2023Review
- Article
- Defects in early synaptic formation and neuronal function in Prader-Willi syndrome.Scientific reports · 2023Article
- Progress in Brain Magnetic Resonance Imaging of Individuals with Prader-Willi Syndrome.Journal of clinical medicine · 2023Review
- Central precocious puberty in Prader-Willi syndrome: a narrative review.Frontiers in endocrinology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disorder. The molecular mechanism of PWS is deficiency of paternally expressed gene gene or genes from the chromosome 15q11-q13. Due to imprinted gene regulation, the same genes in the maternal chromosome 15q11-q13 are structurally intact but transcriptionally repressed by an epigenetic mechanism. The unique molecular defect underlying PWS renders an exciting opportunity to explore epigenetic-based therapy to reactivate the expression of repressed PWS genes from the maternal chromosome. Inactivation of H3K9m3 methyltransferase SETDB1 and zinc finger protein ZNF274 results in reactivation of SNRPN and SNORD116 cluster from the maternal chromosomes in PWS patient iPSCs and iPSC-derived neurons, respectively. High content screening of small molecule libraries using cells derived from transgenic mice carrying the SNRPN-EGFP fusion protein has discovered that inhibitors of EHMT2/G9a, a histone 3 lysine 9 methyltransferase, are capable of reactivating expression of paternally expressed SNRPN and SNORD116 from the maternal chromosome, both in cultured PWS patient-derived fibroblasts and in a PWS mouse model. Treatment with an EMHT2/G9a inhibitor also rescues perinatal lethality and failure to thrive phenotypes in a PWS mouse model. These findings present the first evidence to support a proof-of-principle for epigenetic-based therapy for the PWS in humans.
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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.