Spartan deficiency causes accumulation of Topoisomerase 1 cleavage complexes and tumorigenesis

Germline mutations in SPRTN cause Ruijs–Aalfs syndrome (RJALS), a disorder characterized by genome instability, progeria and early onset hepatocellular carcinoma. Spartan, the protein encoded by SPRTN, is a nuclear metalloprotease that is involved in the repair of DNA–protein crosslinks (DPCs). Alth...

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Detalles Bibliográficos
Autores principales: Maskey, Reeja S., Flatten, Karen S., Sieben, Cynthia J., Peterson, Kevin L., Baker, Darren J., Nam, Hyun-Ja, Kim, Myoung Shin, Smyrk, Thomas C., Kojima, Yusuke, Machida, Yuka, Santiago, Annyoceli, van Deursen, Jan M., Kaufmann, Scott H., Machida, Yuichi J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Genome Integrity, Repair and Replication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5416836/
https://www.ncbi.nlm.nih.gov/pubmed/28199696
http://dx.doi.org/10.1093/nar/gkx107

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5416836/
https://www.ncbi.nlm.nih.gov/pubmed/28199696
http://dx.doi.org/10.1093/nar/gkx107

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