Results 41 to 50 of about 80 (78)

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

Scientific 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, Laura Olivia Karika, Lucia Hronska, Tomas Selicky, Bogdan Iaparov, Miloslav Karhanek, Lenka Kohutova, Peter Barath, Lubos Cipak   +8 more
doaj   +1 more source

Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets

MedComm, Volume 6, Issue 12, December 2025.
Alternative splicing (AS) expands proteomic diversity and functional complexity in eukaryotes, regulated by spliceosomal components, RNA elements, and epigenetic modifications. Dysregulated AS contributes to diseases, including cancer, neurodegenerative disorders, and cardiovascular conditions, among others. Therapeutic interventions, such as antisense
Zhi‐Min Zhu, Xiao‐Mei Wu, Yan Hu, Xiao‐Lan Bian, Ya‐Qin Wang, Qiong‐Ni Zhu   +5 more
wiley   +1 more source

Mining Alzheimer's Interactomes, Macromolecular Complexes and Pathways for Drug Discovery

PROTEOMICS, Volume 25, Issue 21-22, Page 102-150, November 2025.
ABSTRACT Alzheimer's disease (AD) is a progressive neurodegenerative disorder that leads to dementia. Many cases are diagnosed annually and there is no currently available cure. Understanding the underlying disease biology of AD through the study of molecular networks, particularly by mapping clinical variants to tissue‐specific interactomes and ...
Kalpana Panneerselvam, Krishna Kumar Tiwari, Luana Licata, Simona Panni, Sylvie Ricard‐Blum, Sucharitha Balu, Susie Huget, Juan Jose Medina Reyes, Eliot Ragueneau, Livia Perfetto, Birgit Meldal, Sandra Orchard, Henning Hermjakob   +12 more
wiley   +1 more source

Liquid–Liquid Phase Separation: Mechanisms, Roles, and Implications in Cellular Function and Disease

FASEB BioAdvances, Volume 7, Issue 11, November 2025.
Liquid–liquid phase separation (LLPS) is a fundamental biophysical process responsible for forming membraneless organelles involved in key cellular functions like chromatin organization and gene expression. Dysregulation of LLPS contributes to various diseases, including neurodegenerative disorders.
Dikesh Kumar Thakur, Sonal Padole, Tapati Sarkar, Somasundaram Arumugam, Shiladitya Chattopadhyay   +4 more
wiley   +1 more source

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

Genes 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

Effects of Differential Commercial Husbandry Conditions on the Tasmanian Atlantic Salmon Egg Transcriptome

Aquaculture, Fish and Fisheries, Volume 5, Issue 5, October 2025.
ABSTRACT Maternally inherited transcripts are crucial for the developmental competence of salmon embryos. Due to the wide variety of broodstock conditioning approaches used in commercial aquaculture, there is a need to understand how dynamic commercial environments impact the egg transcriptome and subsequent quality.
Xin Zhan, Mark Adams, Louise Adams, Gianluca Amoroso, Kelli Anderson   +4 more
wiley   +1 more source

A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant

Clinical Case Reports, Volume 13, Issue 10, October 2025.
Here, we report the case of a fetus affected by multiple congenital anomalies (MCA) syndrome detected during the second trimester through ultrasound scan, in which a de novo pathogenetic variant in the PUF60 gene (NM_078480.3:c.382_383del; p.Met128ValfsTer11) was identified by trio‐based exome sequencing.
Catia Mio, Maria Orsaria, Alessandra Franzoni, Elisa Bregant, Elena Betto, Jessica Zucco, Eliana Demori, Giuseppe Damante, Flavio Faletra   +8 more
wiley   +1 more source

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

Brain 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, Muhammad Nadeem, Bin He, Jennifer C. Miguel, David G. Moreno, Marta Moreno‐Rodriguez, Michael Malek‐Ahmadi, Chadwick M. Hales, Elliott J. Mufson   +8 more
wiley   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

Obesity 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

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source