ReviewHuman genetics2024
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.
Review in Human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Nuclear speckles: a fundamental layer of gene regulation.Trends in cell biology · 2026Review
- Relationships between clusters of interchromatin granules and chromatin fibers.Histochemistry and cell biology · 2026Article
- Condensatopathies as a mechanistic framework for disease and integrated theranostic intervention.Theranostics · 2026Review
- ZTTK Syndrome Expanding the Cardiac Phenotype: A Case of Shone's Complex With a NovelCase reports in genetics · 2026Article
- Nuclear Condensates of WW Domain-Containing Adaptor With Coiled-Coil Regulate Mitophagy via Alternative Splicing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Speckle signatures dictate cancer prognosis.Nature cell biology · 2025Article
- Nuclear speckles regulate functional programs in cancer.Nature cell biology · 2025Article
- RNA Polymerase II Activity Control of Gene Expression and Involvement in Disease.Journal of molecular biology · 2025Review
- Nuclear speckle biology: At the cross-roads of discovery and functional analysis.Current opinion in cell biology · 2024Review
- Splicing regulation through biomolecular condensates and membraneless organelles.Nature reviews. Molecular cell biology · 2024Review
- Microscopic Analysis of Nuclear Speckles in a Viviparous Reptile.International journal of molecular sciences · 2024Article
- A homozygous missense variant, p.Ser166Leu in theFrontiers in neurologyArticle
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Nuclear speckles are small, membrane-less organelles that reside within the nucleus. Nuclear speckles serve as a regulatory hub coordinating complex RNA metabolism steps including gene transcription, pre-mRNA splicing, RNA modifications, and mRNA nuclear export. Reflecting the importance of proper nuclear speckle function in regulating normal human development, an increasing number of genetic disorders have been found to result from mutations in the genes encoding nuclear speckle proteins. To denote this growing class of genetic disorders, we propose "nuclear speckleopathies". Notably, developmental disabilities are commonly seen in individuals with nuclear speckleopathies, suggesting the particular importance of nuclear speckles in ensuring normal neurocognitive development. In this review article, a general overview of nuclear speckle function, and the current knowledge of the mechanisms underlying some nuclear speckleopathies, such as ZTTK syndrome, NKAP-related syndrome, TARP syndrome, and TAR syndrome, are discussed. These nuclear speckleopathies represent valuable models to understand the basic function of nuclear speckles and how its functional defects result in human developmental disorders.
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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.