WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

Autor: Nina Bögershausen, Hannah E. Krawczyk, Rami A. Jamra, Sheng‐Jia Lin, Gökhan Yigit, Irina Hüning, Anna M. Polo, Barbara Vona, Kevin Huang, Julia Schmidt, Janine Altmüller, Johannes Luppe, Konrad Platzer, Beate B. Dörgeloh, Andreas Busche, Saskia Biskup, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Arne Zibat, Eva Bültmann, Peter Nürnberg, Malte Spielmann, Johannes R. Lemke, Yun Li, Martin Zenker, Gaurav K. Varshney, Hauke S. Hillen, Christian P. Kratz, Bernd Wollnik

Publikováno v: Human Mutations
Human mutation, 43(10), 1454-1471. Wiley-Liss Inc.
Human Mutation, 43(10), 1454-1471. Wiley-Liss Inc.
Bögershausen, N, Krawczyk, H E, Jamra, R A, Lin, S-J, Yigit, G K, Hüning, I, Polo, A M, Vona, B, Huang, K, Schmidt, J, Altmüller, J, Luppe, J, Platzer, K, Dörgeloh, B B, Busche, A, Biskup, S, Mendes, M I, Smith, D E C, Salomons, G S, Zibat, A, Bültmann, E, Nürnberg, P, Spielmann, M, Lemke, J R, Li, Y, Zenker, M, Varshney, G K, Hillen, H S, Kratz, C P & Wollnik, B 2022, ' WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly ', Human Mutation, vol. 43, no. 10, pp. 1454-1471 . https://doi.org/10.1002/humu.24430

Aminoacylation of tRNA is a key step in protein biosynthesis, carried out by highly specific aminoacyl-tRNA synthetases (ARS). ARS have been implicated in autosomal dominant and autosomal recessive human disorders. Autosomal dominant variants in tryp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85935df54049d5375dcb05087f17d26d
https://hdl.handle.net/21.11116/0000-000B-2BDE-C21.11116/0000-000B-2BE0-8