Results 21 to 30 of about 34,718 (253)

Spliceosomal intronogenesis [PDF]

Proceedings of the National Academy of Sciences, 2016
Significance Eukaryotic transcripts contain spliceosomal introns that need to be removed by pre-mRNA splicing. Although several models have been proposed to identify the mechanism of intron gain over the evolution of eukaryotes, they remain models due to a lack of experimental validation.
Sujin, Lee, Scott W, Stevens
openaire   +2 more sources

Transcriptome Analysis of the Cerebellum of Mice Fed a Manganese-Deficient Diet

Frontiers in Genetics, 2020
Manganese (Mn), primarily acquired through diet, is required for brain function and development. Epidemiological studies have found an association between both low and high levels of Mn and impaired neurodevelopment in children.
Young Ah Seo, Eun-Kyung Choi, Luisa Aring, Molly Paschall, Shigeki Iwase   +4 more
doaj   +1 more source

Pre-mRNA splicing-associated diseases and therapies

RNA Biology, 2023
Precursor mRNA (pre-mRNA) splicing is an essential step in human gene expression and is carried out by a large macromolecular machine called the spliceosome.
Sierra L. Love, Joseph D. Emerson, Kazunori Koide, Aaron A. Hoskins   +3 more
doaj   +1 more source

U5 snRNP Core Proteins Are Key Components of the Defense Response against Viral Infection through Their Roles in Programmed Cell Death and Interferon Induction

Viruses, 2022
The spliceosome is a massive ribonucleoprotein structure composed of five small nuclear ribonucleoprotein (snRNP) complexes that catalyze the removal of introns from pre-mature RNA during constitutive and alternative splicing. EFTUD2, PRPF8, and SNRNP200
Simon Boudreault, Guy Lemay, Martin Bisaillon   +2 more
doaj   +1 more source

Dysregulation of U12-Type Splicing in Lupus Neutrophils. [PDF]

Arthritis Rheumatol
Objective Neutrophil dysfunction is a hallmark of systemic lupus erythematosus (SLE), but its molecular basis remains unclear. This study explores transcriptional and posttranscriptional changes in low‐density granulocytes (LDGs), a proinflammatory neutrophil subset expanded in SLE, focusing on NADPH oxidase (Nox) function and minor intron splicing ...
Blanco LP, Regmi B, Carmona-Rivera C, Liu Y, Wang X, Carlucci PM, Jackson MM, Manna Z, Hasni S, Hafner M, Sun HW, Kaplan MJ.   +11 more
europepmc   +2 more sources

SF3b4: A Versatile Player in Eukaryotic Cells

Frontiers in Cell and Developmental Biology, 2020
Spliceosomes are large protein-RNA complexes regulating pre-mRNA processing in eukaryotes. SF3b4 encodes a core subunit of the U2-type spliceosome, loss- or gain-of-function of which often associates with abnormal cell growth, leading to tumorigenesis ...
Feng Xiong, Sha Li, Sha Li
doaj   +1 more source

Engineering Crystal Packing in RNA-Protein Complexes II: A Historical Perspective from the Structural Studies of the Spliceosome

Crystals, 2021
Cryo-electron microscopy has greatly advanced our understanding of how the spliceosome cycles through different conformational states to conduct the chemical reactions that remove introns from pre-mRNA transcripts.
Adelaine Kwun-Wai Leung, Yasushi Kondo, Daniel A. Pomeranz Krummel, Jade Li, Stephen R. Price, Anne-Marie M. van Roon   +5 more
doaj   +1 more source

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency [PDF]

, 2014
The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the ...
Gutierrez-Arumi, Armand, Chowen, Julie Ann, Gabriel Á Martos‐Moreno, Martos Moreno, Gabriel Ángel, Pérez-Jurado, Luis A., Jesús Argente, Frilander, Mikko J., Martos Moreno, Gabriel A., Luis A Pérez‐Jurado, Mikko J Frilander, Ivon Cuscó, Argente Oliver, Jesús, Raquel Flores, Ali Oghabian, Armand Gutiérrez‐Arumí, Verma, Bhupendra, Perez-Jurado, Luis A. ', Cusco, Ivon, Julie A Chowen, Oghabian, Ali, Argente, Jesus, Martos-Moreno, Gabriel A., Chowen, Julie A., Cuscó, I., Flores, Raquel Z., Cuscó Martí, Ivon, 1973-, Pérez Jurado, Luis Alberto, Flores, Raquel, Bhupendra Verma, Gutiérrez Arumi, Armand, 1980-   +29 more
core   +1 more source

Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy [PDF]

, 2012
This work was funded by the Wellcome Trust (grant ID WT078810MA)It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient ...
Clelland, Allyson Kara, Bales, Alexandra Beatrice Elizabeth, Sleeman, Judith Elizabeth   +2 more
core   +1 more source

The Role of E6 Spliced Isoforms (E6*) in Human Papillomavirus-Induced Carcinogenesis

Viruses, 2018
Persistent infections with High Risk Human Papillomaviruses (HR-HPVs) are the main cause of cervical cancer development. The E6 and E7 oncoproteins of HR-HPVs are derived from a polycistronic pre-mRNA transcribed from an HPV early promoter.
Leslie Olmedo-Nieva, J. Omar Muñoz-Bello, Adriana Contreras-Paredes, Marcela Lizano   +3 more
doaj   +1 more source