Results 51 to 60 of about 34,718 (253)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

A splicing-dependent transcriptional checkpoint associated with prespliceosome formation

, 2014
There is good evidence for functional interactions between splicing and transcription in eukaryotes, but how and why these processes are coupled remain unknown.
Chathoth, Keerthi T, Webb, Shaun, Barrass, J David, Beggs, Jean D   +3 more
core   +1 more source

The target of the DEAH-box NTP triphosphatase Prp43 in Saccharomyces cerevisiae spliceosomes is the U2 snRNP-intron interaction

eLife, 2016
The DEAH-box NTPase Prp43 and its cofactors Ntr1 and Ntr2 form the NTR complex and are required for disassembling intron-lariat spliceosomes (ILS) and defective earlier spliceosomes.
Jean-Baptiste Fourmann, Olexandr Dybkov, Dmitry E Agafonov, Marcel J Tauchert, Henning Urlaub, Ralf Ficner, Patrizia Fabrizio, Reinhard Lührmann   +7 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Structure of spliceosomal ribonucleoproteins [PDF]

F1000 Biology Reports, 2010
Splicing of the precursors of eukaryotic mRNA and some non-coding RNAs is catalyzed by the 'spliceosome', which comprises five RNA-protein complexes (small nuclear ribonucleoproteins, or snRNPs) that assemble in an ordered manner onto precursor-mRNAs. Much progress has been made in determining the gross morphology of spliceosomal assembly intermediates.
Krummel, Daniel Aaron Pomeranz, Nagai, Kiyoshi, Oubridge, Chris   +2 more
openaire   +2 more sources

Identification of a small molecule inhibitor that stalls splicing at an early step of spliceosome activation

eLife, 2017
Small molecule inhibitors of pre-mRNA splicing are important tools for identifying new spliceosome assembly intermediates, allowing a finer dissection of spliceosome dynamics and function. Here, we identified a small molecule that inhibits human pre-mRNA
Anzhalika Sidarovich, Cindy L Will, Maria M Anokhina, Javier Ceballos, Sonja Sievers, Dmitry E Agafonov, Timur Samatov, Penghui Bao, Berthold Kastner, Henning Urlaub, Herbert Waldmann, Reinhard Lührmann   +11 more
doaj   +1 more source

Whole-Transcriptome Sequencing Identifies Key Differentially Expressed mRNAs, miRNAs, lncRNAs, and circRNAs Associated with CHOL

Molecular Therapy: Nucleic Acids, 2020
To systematically evaluate the whole-transcriptome sequencing data of cholangiocarcinoma (CHOL) to gain more insights into the transcriptomic landscape and molecular mechanism of this cancer, we performed whole-transcriptome sequencing based on the ...
Kai-Jian Chu, Yu-Shui Ma, Xiao-Hui Jiang, Ting-Miao Wu, Zhi-Jun Wu, Zhi-Zhen Li, Jing-Han Wang, Qing-Xiang Gao, Bin Yi, Yi Shi, Hui-Min Wang, Li-Peng Gu, Su-Qing Zhang, Gao-Ren Wang, Ji-Bin Liu, Da Fu, Xiao-Qing Jiang   +16 more
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Isoforms of U1-70k control subunit dynamics in the human spliceosomal U1 snRNP

, 2009
Most human protein-encoding genes contain multiple exons that are spliced together, frequently in alternative arrangements, by the spliceosome. It is established that U1 snRNP is an essential component of the spliceosome, in human consisting of RNA and ...
Nina Morgner, Hernández Helena, Makarov Evgeny M., H. Hernández (7607219), Yutaka Muto, D. P. Krummel (7607234), Helena Hernández, Carol V Robinson, O. V. Makarova (7607222), Robinson, CV, Krummel, DP, Daniel Pomeranz Krummel, Hernandez, H, Evgeny M Makarov, Makarova, OV, Y. Muto (7607231), Olga V Makarova, Robinson Carol V., E. M. Makarov (7607225), N. Morgner (7607228), Makarov, EM, Robinson, Carol, Makarova Olga V., Muto Yutaka, Krummel Daniel Pomeranz, C. V. Robinson (7607237), Morgner, N, Morgner Nina, Muto, Y   +28 more
core   +1 more source

Introns: the “dark matter” of the eukaryotic genome

Frontiers in Genetics, 2023
The emergence of introns was a significant evolutionary leap that is a major distinguishing feature between prokaryotic and eukaryotic genomes. While historically introns were regarded merely as the sequences that are removed to produce spliced ...
Kaitlin N. Girardini, Anouk M. Olthof, Anouk M. Olthof, Rahul N. Kanadia, Rahul N. Kanadia   +4 more
doaj   +1 more source