Results 61 to 70 of about 556,664 (302)

Understanding splicing regulation through RNA splicing maps

Trends in Genetics, 2011
Alternative splicing is a highly regulated process that greatly increases the proteome diversity and plays an important role in cellular differentiation and disease. Interactions between RNA-binding proteins (RBPs) and pre-mRNA are the principle regulator of splicing decisions.
Witten, Joshua T., Ule, Jernej
openaire   +2 more sources

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

A unified mechanism for intron and exon definition and back-splicing. [PDF]

, 2019
The molecular mechanisms of exon definition and back-splicing are fundamental unanswered questions in pre-mRNA splicing. Here we report cryo-electron microscopy structures of the yeast spliceosomal E complex assembled on introns, providing a view of the ...
Cui, Yanxiang, Das, Rhiju, Espinosa, Sara, Hansen, Kirk C, Hill, Ryan C, Issaian, Aaron, Kappel, Kalli, Li, Xueni, Liu, Shiheng, Shi, Shasha, Zhang, Lingdi, Zhao, Rui, Zhou, Z Hong   +12 more
core  

Methods to study splicing from high-throughput RNA Sequencing data

, 2015
The development of novel high-throughput sequencing (HTS) methods for RNA (RNA-Seq) has provided a very powerful mean to study splicing under multiple conditions at unprecedented depth. However, the complexity of the information to be analyzed has turned
A Ameur, A Bhasi, A Dobin, A Mortazavi, A Oshlack, A Roberts, A Roberts, AM Mezlini, AN Brooks, B Jackson, B Kakaradov, B Langmead, B Li, B Li, BJ Haas, BJ Haas, C Trapnell, C Trapnell, C Trapnell, D Hiller, D Singh, DL Wood, DW Bryant, E Eyras, E Lee, E Turro, ET Wang, F Birzele, F Bona De, F Denoeud, F Tang, G Robertson, G Xu, GA Sacomoto, GR Grant, GS Slater, H Bao, H Jiang, H Jiang, H Kim, H Richard, J Behr, J Du, J Feng, J Hu, J Lovén, J Martin, J Salzman, J Seok, J Seok, J Wu, J Wu, JE Allen, JJ Li, JP Venables, K Schneeberger, K Wang, KD Hansen, KF Au, KL Howe, KM Borgwardt, L Chen, L Chen, L Wang, L Wang, LY Chen, M Aschoff, M Fiume, M Garber, M Griffith, M Guttman, M Stanke, M Stanke, M Sultan, MC Ryan, MF Rogers, MG Grabherr, MH Schulz, MT Dimon, N Cloonan, N Cloonan, N Deng, N Leng, N Nicolae, N Philippe, N Vijay, NA Fonseca, O Stegle, P Drewe, P Glaus, PL Martelli, PP Labaj, Q Liu, Q Liu, Q Pan, QY Zhao, R Bohnert, R Guigó, R Li, S Anders, S Djebali, S Filichkin, S Heber, S Huang, S Lee, S Mangul, S Marco-Sola, S Shen, S Sonnenburg, S Srivastava, S Tang, S Zheng, SB Montgomery, SH Nagaraj, SK Lou, T Bonfert, TA Clark, TD Wu, TD Wu, W Li, W Li, W Wang, WJ Kent, Y Hu, Y Katz, Y Li, Y Liao, Y Surget-Groba, Y Xing, Y Xing, Y Zhang, Z Xia   +131 more
core   +1 more source

MicroRNA-222 regulates muscle alternative splicing through Rbm24 during differentiation of skeletal muscle cells [PDF]

, 2016
A number of microRNAs have been shown to regulate skeletal muscle development and differentiation. MicroRNA-222 is downregulated during myogenic differentiation and its overexpression leads to alteration of muscle differentiation process and specialized ...
Cappella, Marisa, Cardinali, B., Cittaro, D., Falcone, G., Garcia Manteiga, J. M., Lazarevic, D., Martelli, F, Provenzano, C.   +7 more
core   +2 more sources

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

Human Genomics
Background TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Cristina Fortuno, Inés Llinares-Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco-Sampedro, Amanda B. Spurdle   +9 more
doaj   +1 more source

Altered CELF4 splicing factor enhances pancreatic neuroendocrine tumors aggressiveness influencing mTOR and everolimus response

Molecular Therapy: Nucleic Acids
Pancreatic neuroendocrine tumors (PanNETs) comprise a heterogeneous group of tumors with growing incidence. Recent molecular analyses provided a precise picture of their genomic and epigenomic landscape. Splicing dysregulation is increasingly regarded as
Emilia Alors-Pérez, Sergio Pedraza-Arevalo, Ricardo Blázquez-Encinas, Víctor García-Vioque, Antonio Agraz-Doblas, Elena M. Yubero-Serrano, Marina E. Sánchez-Frías, Raquel Serrano-Blanch, María Ángeles Gálvez-Moreno, Francisco Gracia-Navarro, Manuel D. Gahete, Álvaro Arjona-Sánchez, Raúl M. Luque, Alejandro Ibáñez-Costa, Justo P. Castaño   +14 more
doaj   +1 more source

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing

Molecular Genetics & Genomic Medicine, 2022
Background Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood‐onset progressive dystonia.
Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar   +13 more
doaj   +1 more source