Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1

SF3B1, which encodes an essential spliceosomal protein, is frequently mutated in myelodysplastic syndromes (MDS) and many cancers. However, the defect of mutant SF3B1 is unknown. Here, we analyzed RNA-sequencing data from MDS patients and confirmed that SF3B1 mutants use aberrant 3′ splice sites. To...

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Publicado no:Mol Cell
Main Authors: Zhang, Jian, Ali, Abdullah M., Lieu, Yen K., Liu, Zhaoqi, Gao, Jianchao, Rabadan, Raul, Raza, Azra, Mukherjee, Siddhartha, Manley, James L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7065273/
https://ncbi.nlm.nih.gov/pubmed/31474574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.molcel.2019.07.017
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