Biallelic variants in YRDC cause a developmental disorder with progeroid features

The highly conserved YrdC domain-containing protein (YRDC) interacts with the well-described KEOPS complex, regulating specific tRNA modifications to ensure accurate protein synthesis. Previous studies have linked the KEOPS complex to a role in promoting telomere maintenance and controlling genome i...

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Detalles Bibliográficos
Autores principales: Schmidt, Julia, Goergens, Jonas, Pochechueva, Tatiana, Kotter, Annika, Schwenzer, Niko, Sitte, Maren, Werner, Gesa, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Isensee, Jörg, Li, Yun, Müller, Christian, Leube, Barbara, Reinhardt, H. Christian, Hucho, Tim, Salinas, Gabriela, Helm, Mark, Jachimowicz, Ron D., Wieczorek, Dagmar, Kohl, Tobias, Lehnart, Stephan E., Yigit, Gökhan, Wollnik, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553732/
https://www.ncbi.nlm.nih.gov/pubmed/34545459
http://dx.doi.org/10.1007/s00439-021-02347-3

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