Results 81 to 90 of about 12,575 (173)

Combinatorial Analyses of Pre‐mRNA Splicing‐Defective Mutants Reveal Differential Quantitative Requirements for Shelterin in Distinct Telomere Functions

open access: yesGenes to Cells, Volume 30, Issue 6, November 2025.
Different telomere functions show distinct dependence on Rap1 protein levels revealed by analyses of pre‐mRNA splicing mutants. ABSTRACT Telomeres perform multiple functions to maintain genome stability, including telomere length regulation, chromosome end protection, and meiotic chromosome dynamics.
Miho Takeuchi, Yoko Otsubo, Junko Kanoh
wiley   +1 more source

Sad1 Counteracts Brr2-Mediated Dissociation of U4/U6.U5 in Tri-snRNP Homeostasis [PDF]

open access: yesMolecular and Cellular Biology, 2014
The yeast Sad1 protein was previously identified in a screen for factors involved in the assembly of the U4/U6 di-snRNP particle. Sad1 is required for pre-mRNA splicing both in vivo and in vitro, and its human orthologue has been shown to associate with U4/U6.U5 tri-snRNP.
Yu-Hsin, Huang   +4 more
openaire   +2 more sources

Spliceosome protein alterations differentiate hubs of the default mode connectome during the progression of Alzheimer's disease

open access: yesBrain Pathology, Volume 35, Issue 5, September 2025.
Default mode network (DMN) consists, in part, of the frontal (FC), precuneus (PreC), and posterior cingulate cortex (PCC), which plays a critical role in episodic memory and retrieval of autobiographical memories, displays spatiotemporal differences in the onset of amyloid and hypometabolism that reflects tau neurodegeneration and loss of connectivity ...
Sylvia E. Perez   +8 more
wiley   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

open access: yesObesity Reviews, Volume 26, Issue 9, September 2025.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

Nuclear Condensates Of Wac Regulate Mitophagy Through Alternative Splicing

open access: yesInternational Dental Journal
Aim or purpose: The present study aimed to investigate the nuclear condensates formation ability of Desanto-Shinawi syndrome (DESSH) related protein-WW domain-containing adaptor with coiled-coil (WAC) and related biological function.
Jiahe Wang, Chenchen Zhou
doaj   +1 more source

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

open access: yesAdvanced Science, Volume 12, Issue 32, August 28, 2025.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen   +12 more
wiley   +1 more source

U1‐70K and U1A and tau pathogenesis in demented and non‐demented individuals with Down syndrome

open access: yesAlzheimer's &Dementia, Volume 21, Issue 8, August 2025.
Abstract INTRODUCTION Splicing protein mislocalization is associated with tau pathogenesis, but its role in Down syndrome (DS) is under‐investigated. METHODS Spliceosome associations with tau and plaque pathology were examined in frontal cortex from DS with dementia (DSD+) and without dementia (DSD−) using quantitative immunoblotting and ...
Sylvia E. Perez   +6 more
wiley   +1 more source

Alternative splicing regulation by tumor suppressing subtransferable candidate 4: a pathway to tumor suppression

open access: yesFrontiers in Immunology
IntroductionRNA splicing is a crucial posttranscriptional process that governs gene expression, and defects in alternative splicing contribute to various diseases, including cancer.
Haiping Zhao   +10 more
doaj   +1 more source

Nuclear Condensates of WW Domain‐Containing Adaptor With Coiled‐Coil Regulate Mitophagy via Alternative Splicing

open access: yesAdvanced Science
Biomolecular condensates segregate nuclei into discrete regions, facilitating the execution of distinct biological functions. Here, it is identified that the WW domain containing adaptor with coiled‐coil (WAC) is localized to nuclear speckles via its WW ...
Jiahe Wang   +13 more
doaj   +1 more source

GPATCH11 ortholog Sap34 regulates pre-mRNA splicing by interacting with early spliceosomal complexes in Schizosaccharomyces pombe

open access: yesScientific Reports
Pre-mRNA splicing is an essential step in gene expression regulation. It is mediated by the spliceosome, a large ribonucleoprotein complex that undergoes dynamic structural and compositional rearrangements during each splicing cycle.
Ingrid Cipakova   +8 more
doaj   +1 more source

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