ReviewLife (Basel, Switzerland)2021
NSD1: A Lysine Methyltransferase between Developmental Disorders and Cancer.
Review in Life (Basel, Switzerland), 2021. 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, 31 citations in OpenAlex.
- Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.Human genetics · 2026Article
- Article
- Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?Italian journal of pediatrics · 2025Article
- Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies.Disease models & mechanisms · 2025Review
- Unconventional receptor functions and location-biased signaling of the lactate GPCR in the nucleus.Life science alliance · 2025Article
- Epigenetic mechanisms of Nsd1-mediated histone methylation modifications in chondrocyte ferroptosis in knee osteoarthritis.Biomolecules & biomedicine · 2025Article
- Zinc and its binding proteins: essential roles and therapeutic potential.Archives of toxicology · 2025Review
- Comprehensive Analysis of Multi-Omics Data on RNA Polymerase as an Adverse Factor in Head and Neck Squamous Cell Carcinoma.Journal of inflammation research · 2025Article
- NSD3 in Cancer: Unraveling Methyltransferase-Dependent and Isoform-Specific Functions.International journal of molecular sciences · 2024Review
- 2-Aminobenzothiazoles in anticancer drug design and discovery.Bioorganic chemistry · 2023Review
- Article
- Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.Frontiers in pediatrics · 2023Article
- Upfront Screening by Quantitative Real-Time PCR Assay Identifies NUP98::NSD1 Fusion Transcript in Indian AML Patients.Diagnostics (Basel, Switzerland) · 2022Article
- Review
- Special Issue "Structure, Activity, and Function of Protein Methyltransferases".Life (Basel, Switzerland) · 2022Article
- Potential Involvement ofCancers · 2022Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Recurrent epigenomic alterations associated with multiple human pathologies have increased the interest in the nuclear receptor binding SET domain protein 1 (NSD1) lysine methyltransferase. Here, we review the current knowledge about the biochemistry, cellular function and role of NSD1 in human diseases. Several studies have shown that NSD1 controls gene expression by methylation of lysine 36 of histone 3 (H3K36me1/2) in a complex crosstalk with de novo DNA methylation. Inactivation in flies and mice revealed that NSD1 is essential for normal development and that it regulates multiple cell type-specific functions by interfering with transcriptional master regulators. In humans, putative loss of function NSD1 mutations characterize developmental syndromes, such as SOTOS, as well as cancer from different organs. In pediatric hematological malignancies, a recurrent chromosomal translocation forms a NUP98-NSD1 fusion with SET-dependent leukemogenic activity, which seems targetable by small molecule inhibitors. To treat or prevent diseases driven by aberrant NSD1 activity, future research will need to pinpoint the mechanistic correlation between the NSD1 gene dosage and/or mutational status with development, homeostasis, and malignant transformation.
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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.