Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity

Telomere biology disorders (TBDs) are characterized by short telomeres, premature aging, bone marrow failure and cancer predisposition. Germline mutations in NHP2, encoding for one component of the telomerase cofactor H/ACA RNA binding complex together with Dyskerin, NOP10 and GAR1, have been previo...

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Detalles Bibliográficos
Autores principales: Maliński, Bartosz, Vertemara, Jacopo, Faustini, Elena, Ladenvall, Claes, Norberg, Anna, Zhang, Yuming, von Castelmur, Eleonore, Baliakas, Panagiotis, Tisi, Renata, Cammenga, Jörg, Lottersberger, Francisca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10508036/
https://www.ncbi.nlm.nih.gov/pubmed/37440454
http://dx.doi.org/10.1093/hmg/ddad114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10508036/
https://www.ncbi.nlm.nih.gov/pubmed/37440454
http://dx.doi.org/10.1093/hmg/ddad114

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