Results 11 to 20 of about 210,566 (311)

Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing

Nature Communications, 2022
Wiskott-Aldrich syndrome is caused by mutations in WASP, but the underlying mechanisms remain to be explored. Here the authors reveal that WASP deficiency results in aberrant RNA splicing, and that WASP regulates the transcription of splicing factor ...
Baolei Yuan, Xuan Zhou, Keiichiro Suzuki, Gerardo Ramos-Mandujano, Mengge Wang, Muhammad Tehseen, Lorena V. Cortés-Medina, James J. Moresco, Sarah Dunn, Reyna Hernandez-Benitez, Tomoaki Hishida, Na Young Kim, Manal M. Andijani, Chongwei Bi, Manching Ku, Yuta Takahashi, Jinna Xu, Jinsong Qiu, Ling Huang, Christopher Benner, Emi Aizawa, Jing Qu, Guang-Hui Liu, Zhongwei Li, Fei Yi, Yanal Ghosheh, Changwei Shao, Maxim Shokhirev, Patrizia Comoli, Francesco Frassoni, John R. Yates, Xiang-Dong Fu, Concepcion Rodriguez Esteban, Samir Hamdan, Mo Li, Juan Carlos Izpisua Belmonte   +35 more
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Exploring RNA modifications, editing, and splicing changes in hyperuricemia and gout

Frontiers in Medicine, 2022
Hyperuricemia and gout are two of the most common metabolic disorders worldwide; their incidence is increasing with changes in lifestyle, and they are correlated with many diseases, including renal and cardiovascular diseases.
Chung-Ming Huang, Chung-Ming Huang, Chung-Ming Huang, Yu-Chia Chen, Yu-Chia Chen, Yu-Chia Chen, I-Lu Lai, I-Lu Lai, Hong-Da Chen, Po-Hao Huang, Siang-Jyun Tu, Ya-Ting Lee, Ya-Ting Lee, Ju-Chen Yen, Ju-Chen Yen, Chia-Li Lin, Chia-Li Lin, Ting-Yuan Liu, Ting-Yuan Liu, Ting-Yuan Liu, Jan-Gowth Chang, Jan-Gowth Chang   +21 more
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Genome-wide regulation of KSHV RNA splicing by viral RNA-binding protein ORF57.

PLoS Pathogens, 2022
RNA splicing plays an essential role in the expression of eukaryotic genes. We previously showed that KSHV ORF57 is a viral splicing factor promoting viral lytic gene expression.
Vladimir Majerciak, Beatriz Alvarado-Hernandez, Alexei Lobanov, Maggie Cam, Zhi-Ming Zheng   +4 more
doaj   +1 more source

FMRP deficiency leads to multifactorial dysregulation of splicing and mislocalization of MBNL1 to the cytoplasm.

PLoS Biology, 2023
Fragile X syndrome (FXS) is a neurodevelopmental disorder that is often modeled in Fmr1 knockout mice where the RNA-binding protein FMRP is absent. Here, we show that in Fmr1-deficient mice, RNA mis-splicing occurs in several brain regions and peripheral
Suna Jung, Sneha Shah, Geongoo Han, Joel D Richter   +3 more
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A mechanism for RNA splicing. [PDF]

Proceedings of the National Academy of Sciences, 1980
The most abundant of the stable small nuclear RNAs of eukaryotic cells, U-1 small nuclear RNA, is exactly complementary to the consensus sequences at RNA splice sites. We propose that this RNA is the recognition component of the nuclear RNA splicing enzyme and forms base pairs with both ends of an intron so as to align them for cutting and splicing.
John A. Rogers, Randolph Wall
openaire   +3 more sources

Investigation of androgen receptor-dependent alternative splicing has identified a unique subtype of lethal prostate cancer

Asian Journal of Andrology, 2023
A complete proteomics study characterizing active androgen receptor (AR) complexes in prostate cancer (PCa) cells identified a diversity of protein interactors with tumorigenic annotations, including known RNA splicing factors.
Sean Seltzer, Paresa N Giannopoulos, Tarek A Bismar, Mark Trifiro, Miltiadis Paliouras   +4 more
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Cis- and trans-regulations of pre-mRNA splicing by RNA editing enzymes influence cancer development

Nature Communications, 2020
RNA editing and RNA splicing are involved in tumorigenesis. Here the authors report crosstalk between RNA editing and splicing by identifying ADAR1/2-dependent splicing events in esophageal squamous carcinoma cells.
Sze Jing Tang, Haoqing Shen, Omer An, HuiQi Hong, Jia Li, Yangyang Song, Jian Han, Daryl Jin Tai Tay, Vanessa Hui En Ng, Fernando Bellido Molias, Ka Wai Leong, Priyankaa Pitcheshwar, Henry Yang, Leilei Chen   +13 more
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The incredible complexity of RNA splicing [PDF]

Genome Biology, 2016
Alternative splice isoforms are common and important and have been shown to impact many human diseases. A new study by Nellore et al. offers a comprehensive study of splice junctions in humans by re-analyzing over 21,500 public human RNA sequencing datasets.
Christelle Robert, Mick Watson
openaire   +3 more sources

Global donor and acceptor splicing site kinetics in human cells

eLife, 2019
RNA splicing is an essential part of eukaryotic gene expression. Although the mechanism of splicing has been extensively studied in vitro, in vivo kinetics for the two-step splicing reaction remain poorly understood.
Leonhard Wachutka, Livia Caizzi, Julien Gagneur, Patrick Cramer   +3 more
doaj   +1 more source

RNA splicing: disease and therapy [PDF]

Briefings in Functional Genomics, 2011
The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect splicing are more prevalent than previously thought. The mechanism of pre-mRNA splicing is highly complex, requiring multiple interactions between pre-mRNA, small nuclear ribonucleoproteins and splicing factor proteins.
Douglas, Andrew G.L., Wood, Matthew J.A.
openaire   +4 more sources