Results 1 to 10 of about 21,005 (271)

Determination of trunk neural crest cell fate and susceptibility to splicing perturbation by the DLC1-SF3B1-PHF5A splicing complex [PDF]

Nature Communications
How the ubiquitously expressed splicing factors specifically regulate neural crest (NC) development and enhance their vulnerability to splicing perturbations remain poorly understood.
Zhengfan Zheng, Suisui Guo, Hoi Yau Tam, Jingkai Wang, Yanxia Rao, Man-Ning Hui, May Pui Lai Cheung, Alan Wai Lun Leung, Kelvin K. W. Wong, Rakesh Sharma, Jessica Aijia Liu, Martin Cheung   +11 more
doaj   +5 more sources

Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3’ splice sites [PDF]

RNA Biology
SF3B1 is a core component of the spliceosome involved in branch point recognition and 3’ splice site selection. The SF3B1 K700E mutation (lysine to glutamic acid) is common in myelodysplastic syndrome and other blood disorders.
Austin Herbert, Abigail Hatfield, Alexandra Randazza, Valeria Miyamoto, Katie Palmer, Lela Lackey   +5 more
doaj   +3 more sources

Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point [PDF]

Cell Reports, 2015
Recurrent mutations in the spliceosome are observed in several human cancers, but their functional and therapeutic significance remains elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of ...
Rachel B. Darman, Michael Seiler, Anant A. Agrawal, Kian H. Lim, Shouyong Peng, Daniel Aird, Suzanna L. Bailey, Erica B. Bhavsar, Betty Chan, Simona Colla, Laura Corson, Jacob Feala, Peter Fekkes, Kana Ichikawa, Gregg F. Keaney, Linda Lee, Pavan Kumar, Kaiko Kunii, Crystal MacKenzie, Mark Matijevic, Yoshiharu Mizui, Khin Myint, Eun Sun Park, Xiaoling Puyang, Anand Selvaraj, Michael P. Thomas, Jennifer Tsai, John Y. Wang, Markus Warmuth, Hui Yang, Ping Zhu, Guillermo Garcia-Manero, Richard R. Furman, Lihua Yu, Peter G. Smith, Silvia Buonamici   +35 more
doaj   +2 more sources

The metabolic reprogramming and vulnerability of SF3B1 mutations [PDF]

Molecular & Cellular Oncology, 2020
Mutations in the splicing factor 3b subunit 1 (SF3B1) gene create a neomorphic protein that disrupts RNA splicing, but the downstream consequences of this missplicing are unclear.
W. Brian Dalton
doaj   +3 more sources

SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms. [PDF]

Leukemia
Myelodysplastic syndromes with somatic mutations in the splicing factor SF3B1 gene (MDS-SF3B1) result in RNA mis-splicing, erythroid dysplasia and ultimately refractory anemia.
Thier J, Hofmann S, Kirchhof KM, Todisco G, Mortera-Blanco T, Lilienthal I, Kanellis DC, Barbosa I, Björklund AC, Deslauriers AG, Bartek J, Herold N, Papaemmanuil E, Papapetrou EP, Hellström-Lindberg E, Moura PL, Lundin V.   +16 more
europepmc   +2 more sources

Advancing the therapeutic effectiveness of paclitaxel in chronic lymphocytic leukemia through the simultaneous inhibition of NOTCH1 and SF3B1

Cancer Cell International
Background Chemoresistance is still a significant obstacle to cancer therapy. Overexpression of the splicing factor 3b subunit 1 (SF3B1) and neurogenic locus notch homolog protein 1 (NOTCH1) factors is typically found in chronic lymphocytic leukemia (CLL)
Shiva Abolhasani, Armin Mahmoud salehi Khesht, Atefeh Khodakarami, Ali Masjedi, Bentolhoda Rashidi, Sepideh Izadi, Fatemeh Karimian Noukabadi, Vahid Karpisheh, Khatereh Torabi Poudeh, Pooya Jalali, Zahra Salehi, Rafieh Bagherifar, Seyyed Sina Hejazian, AliAkbar Movassaghpour, Abbas Ali Hosseinpour Feizi, Farhad Jadidi   +15 more
doaj   +2 more sources

SF3B1 Association with Chromatin Determines Splicing Outcomes

Cell Reports, 2015
Much remains unknown concerning the mechanism by which the splicing machinery pinpoints short exons within intronic sequences and how splicing factors are directed to their pre-mRNA targets.
Nir Kfir, Galit Lev-Maor, Ohad Glaich, Adi Alajem, Arnab Datta, Siu K. Sze, Eran Meshorer, Gil Ast   +7 more
doaj   +4 more sources

Cancer-associated SF3B1 mutation K700E causes widespread changes in U2/branchpoint recognition without altering splicing [PDF]

Proceedings of the National Academy of Sciences of the United States of America
Significance Myelodysplastic syndrome (MDS) and certain cancers are associated with mutations in the protein SF3B1, which is a subunit of the U2 snRNP.
Andrey Damianov, Chia-Ho Lin, Jian Zhang, James L. Manley, Douglas L. Black   +4 more
semanticscholar   +3 more sources

Chronic myelomonocytic leukemia with ring sideroblasts/SF3B1 mutation presents with low monocyte count and resembles myelodysplastic syndromes with-RS/SF3B1 mutation in terms of phenotype and prognosis

Frontiers in Oncology
IntroductionChronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS) with ring sideroblasts (RS) or SF3B1 mutation (MDS-RS/SF3B1) differ in many clinical features, but share others, such as anemia.
Blanca Xicoy, Helena Pomares, Mireia Morgades, Ulrich Germing, Montserrat Arnan, Mar Tormo, Laura Palomo, Elisa Orna, Matteo Della Porta, Felicitas Schulz, Marina Díaz-Beya, Ada Esteban, Antonieta Molero, Luca Lanino, Alejandro Avendaño, Francisca Hernández, Verónica Roldan, Marta Ubezio, Alberto Pineda, María Díez-Campelo, Lurdes Zamora   +20 more
doaj   +2 more sources

U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing

Cells, 2020
Splicing factor 3b subunit 1 (SF3B1) is an essential protein in spliceosomes and mutated frequently in many cancers. While roles of SF3B1 in single intron splicing and roles of its cancer-linked mutant in aberrant splicing have been identified to some ...
Namjeong Choi, Yongchao Liu, Jagyeong Oh, Jiyeon Ha, Xuexiu Zheng, Haihong Shen   +5 more
doaj   +3 more sources