Deep mutational analysis of elongation factor eEF2 residues implicated in human disease to identify functionally important contacts with the ribosome

Autor: Olson, Alexandra N., Song, Serena, Dinman, Jonathan D.

Publikováno v: In Journal of Biological Chemistry January 2023 299(1)

A novel de novo variant in CASKcauses a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Autor: Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Olson, Alexandra N., Sánchez-Calvin, María Teresa, de Aragón, Ana Martínez, de Las Heras, Rogelio Simón, Dinman, Jonathan D., de Vries, Bert B. A., Nabais Sá, Maria João, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco

Publikováno v: Journal of Human Genetics; August 2023, Vol. 68 Issue: 8 p543-550, 8p

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Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

Autor: Marianna Penzo, Riekelt H. Houtkooper, Marjolijn C.J. Jongmans, Alexandra Nin-Velez, Carolina Marques dos Santos Vieira, Evelien Zonneveld-Huijssoon, Alexandra N. Olson, Roland P. Kuiper, Anne-Marie Hesse, Marie-Françoise O'Donohue, Marc Bierings, Hyung L. Elfrink, Michel van Weeghel, Marco Lezzerini, Manon Saby, Peter G. J. Nikkels, Alyson W. MacInnes, Lydie Da Costa, Illja J. Diets, Pierre-Emmanuel Gleizes, Jonathan D. Dinman, Marc Gastou, Lorenzo Montanaro, Yohann Couté, Thierry Leblanc, GuangJun Zhang, Marcin W. Wlodarski, Jutte van der Werff ten Bosch

Publikováno v: Nucleic Acids Research
Nucleic Acids Research, 2020, 48 (2), pp.770-787. ⟨10.1093/nar/gkz1042⟩
Nucleic acids research, 48(2), 770-787. Oxford University Press
Nucleic Acids Research, 48(2), 770-787. Oxford University Press
Nucleic Acids Research, 48, 770-787
Nucleic Acids Research, Oxford University Press, 2020, 48 (2), pp.770-787. ⟨10.1093/nar/gkz1042⟩
Nucleic Acids Research, 48, 2, pp. 770-787

Contains fulltext : 218593.pdf (Publisher’s version ) (Open Access) Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer. Inherited and sporadic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa16e196f68a14dd6e43d49d8991d4fc
https://doi.org/10.1093/nar/gkz1042