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
Ensure healthy lives and promote well-being for all at all ages
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spelling Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorderMattioli, FrancescaWorpenberg, LinaLi, Cai-TaoIbrahim, NaziaNaz, ShaguftaSharif, SaimaFirouzabadi, Saghar G.Vosoogh, ShohrehSaraeva-Lamri, RadoslavaRaymond, LaureTrujillo, CarlosGuex, NicolasAntonarakis, Stylianos E.Ansar, MuhammadDarvish, HosseinLiu, Ru-JuanRoignant, Jean-YvesReymond, Alexandrem(5)CAutosomal recessiveConsanguinityNeurodevelopmental disorderRNA methyltransferasehttp://metadata.un.org/sdg/3Ensure healthy lives and promote well-being for all at all ages5-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.This work was supported by grants from the Swiss National Science Foundation (31003A_182632 to A.R. and 310030_197906 to J.-Y.R.), the Lejeune Foundation (#1838 - 2019A to A.R.), the Blackswan Foundation (to A.R.), the Higher Education Commission Pakistan (1-8/HEC/HRD/2020/10867 to S.N.), the Lahore College for Women University, Pakistan (TR/LCWU/778,2020 to S.N.), the National Key Research and Development Program of China (2021YFA1100800 to R.-J.L.), the Natural Science Foundation of China (32022040, 31971230 to R.-J.L.), and the Deutsche Forschungsgemeinschaft (RO 4681/9-1, RO 4681/12-1, and RO 4681/13-1, TRR319 RMaP to J.-Y.R.). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.Peer reviewedElsevier0000-0002-1595-4320Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202520252023info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionhttp://hdl.handle.net/10261/395062https://api.elsevier.com/content/abstract/scopus_id/85164338237reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésGenetics in medicine : official journal of the American College of Medical Geneticshttps://doi.org/10.1016/j.gim.2023.100900Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3950622026-05-22T06:33:51Z
dc.title.none.fl_str_mv Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
title Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
spellingShingle Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
Mattioli, Francesca
m(5)C
Autosomal recessive
Consanguinity
Neurodevelopmental disorder
RNA methyltransferase
http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
title_short Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
title_full Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
title_fullStr Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
title_full_unstemmed Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
title_sort Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
dc.creator.none.fl_str_mv 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
author Mattioli, Francesca
author_facet 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
author_role author
author2 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
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv 0000-0002-1595-4320
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv m(5)C
Autosomal recessive
Consanguinity
Neurodevelopmental disorder
RNA methyltransferase
http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
topic m(5)C
Autosomal recessive
Consanguinity
Neurodevelopmental disorder
RNA methyltransferase
http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
description 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.
publishDate 2023
dc.date.none.fl_str_mv 2023
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/395062
https://api.elsevier.com/content/abstract/scopus_id/85164338237
url http://hdl.handle.net/10261/395062
https://api.elsevier.com/content/abstract/scopus_id/85164338237
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Genetics in medicine : official journal of the American College of Medical Genetics
https://doi.org/10.1016/j.gim.2023.100900
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812429

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