Results 11 to 20 of about 51,251 (260)
Direct and indirect effects of spliceosome disruption compromise gene regulation by nonsense-mediated mRNA decay [PDF]
RNA BiologyPre-mRNA splicing, carried out in the nucleus by a large ribonucleoprotein machine known as the spliceosome, is functionally and physically coupled to the mRNA surveillance pathway in the cytoplasm called nonsense-mediated mRNA decay (NMD).
Caleb M. Embree +3 more
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A Novel N‐Terminal PRPF6 Variant in Autosomal Dominant Retinitis Pigmentosa [PDF]
Clinical Case ReportsThis report identifies the first N‐terminal PRPF6 variant (c.514C>T) as a cause of autosomal dominant Retinitis Pigmentosa. This novel variant is associated with progressive peripheral vision loss but notably preserved central visual acuity, suggesting a
Na Li, Yalong Dang
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Microinflammation-Driven Gene Expression Dynamics in the Pathogenesis of Metabolic Disorders and Cancer [PDF]
BiologyMicroinflammation serves as a central mechanism linking metabolic diseases and cancer. This study integrates gene expression profiles from irritable bowel syndrome (IBS), obesity, type 2 diabetes (T2D), colorectal cancer (CRC), renal cell carcinoma (RCC),
Marian Elisa Gabrielle T. Cadungog +1 more
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Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms [PDF]
Frontiers in Cell and Developmental BiologyCraniofacial spliceosomopathies are syndromes resulting from mutations in components of the spliceosome, presenting with facial dysostosis in combination with other phenotypes.
Casey Griffin
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Dynamics and consequences of spliceosome E complex formation
eLife, 2017 The spliceosome must identify the correct splice sites (SS) and branchsite (BS) used during splicing. E complex is the earliest spliceosome precursor in which the 5' SS and BS are defined.
Joshua Donald Larson, Aaron A Hoskins
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SnapShot: Spliceosome Dynamics II
Cell, 2015 Spliceosomes are multi-megadalton RNA-protein molecular machines that carry out pre-mRNA splicing, that is, the removal of non-coding intervening sequences (introns) from eukaryotic pre-mRNAs and the ligation of neighboring coding regions (exons) to produce mature mRNA for protein biosynthesis on the ribosome.
M.C. Wahl, Reinhard Lührmann
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Controlled dynamic remodeling of the spliceosome active site enables the first step of splicing. [PDF]
Proc Natl Acad Sci U S AMartino G +4 more
europepmc +2 more sources
iScience, 2023 Summary: Ribonucleoprotein (RNP) condensates are crucial for controlling RNA metabolism and splicing events in animal cells. We used spatial proteomics and transcriptomic to elucidate RNP interaction networks at the centrosome, the main microtubule ...
Luigi Cerulo +11 more
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Spliceosomal snRNA Epitranscriptomics [PDF]
Frontiers in Genetics, 2021 Small nuclear RNAs (snRNAs) are critical components of the spliceosome that catalyze the splicing of pre-mRNA. snRNAs are each complexed with many proteins to form RNA-protein complexes, termed as small nuclear ribonucleoproteins (snRNPs), in the cell nucleus. snRNPs participate in pre-mRNA splicing by recognizing the critical sequence elements present
Pedro Morais, Hironori Adachi, Yi-Tao Yu
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Cell Reports, 2022 Summary: The spliceosome is a large ribonucleoprotein complex responsible for pre-mRNA splicing and genome stability maintenance. Disruption of the spliceosome activity may lead to developmental disorders and tumorigenesis.
Gui-Xin Ruan +8 more
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