Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder

5-methylcytosine RNA modifications are driven by NSUN methyltransferases. Although variants in NSUN2 and NSUN3 were associated with neurodevelopmental diseases, the physiological role of NSUN6 modifications on transfer RNAs and messenger RNAs remained elusive.

Detalles Bibliográficos
Autores: Mattioli, Francesca, Worpenberg, Lina, Li, Cai-Tao, Ibrahim, Nazia, Naz, Shagufta, Sharif, Saima, Firouzabadi, Saghar G., Vosoogh, Shohreh, Saraeva-Lamri, Radoslava, Raymond, Laure, Trujillo, Carlos, Guex, Nicolas, Antonarakis, Stylianos E., Ansar, Muhammad, Darvish, Hossein, Liu, Ru-Juan, Roignant, Jean-Yves, Reymond, Alexandre
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/395062
Acceso en línea:http://hdl.handle.net/10261/395062
https://api.elsevier.com/content/abstract/scopus_id/85164338237
Access Level:acceso abierto
Palabra clave:m(5)C
Autosomal recessive
Consanguinity
Neurodevelopmental disorder
RNA methyltransferase
http://metadata.un.org/sdg/3
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Descripción
Sumario:5-methylcytosine RNA modifications are driven by NSUN methyltransferases. Although variants in NSUN2 and NSUN3 were associated with neurodevelopmental diseases, the physiological role of NSUN6 modifications on transfer RNAs and messenger RNAs remained elusive.

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