Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we report an allelic series consisting of seven novel...

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Detalles Bibliográficos
Autores principales: Siekierska, Aleksandra, Stamberger, Hannah, Deconinck, Tine, Oprescu, Stephanie N., Partoens, Michèle, Zhang, Yifan, Sourbron, Jo, Adriaenssens, Elias, Mullen, Patrick, Wiencek, Patrick, Hardies, Katia, Lee, Jeong-Soo, Giong, Hoi-Khoanh, Distelmaier, Felix, Elpeleg, Orly, Helbig, Katherine L., Hersh, Joseph, Isikay, Sedat, Jordan, Elizabeth, Karaca, Ender, Kecskes, Angela, Lupski, James R., Kovacs-Nagy, Reka, May, Patrick, Narayanan, Vinodh, Pendziwiat, Manuela, Ramsey, Keri, Rangasamy, Sampathkumar, Shinde, Deepali N., Spiegel, Ronen, Timmerman, Vincent, von Spiczak, Sarah, Helbig, Ingo, Weckhuysen, Sarah, Francklyn, Christopher, Antonellis, Anthony, de Witte, Peter, De Jonghe, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372652/
https://www.ncbi.nlm.nih.gov/pubmed/30755616
http://dx.doi.org/10.1038/s41467-018-07953-w

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