An intellectual-disability-associated mutation of the transcriptional regulator NACC1 impairs glutamatergic neurotransmission

Advances in genome sequencing technologies have favored the identification of rare de novo mutations linked to neurological disorders in humans. Recently, a de novo autosomal dominant mutation in NACC1 was identified (NM_052876.3: c.892C > T, NP_443108.1; p.Arg298Trp), associated with severe neur...

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Detalles Bibliográficos
Autores principales: Daniel, James A., Elizarova, Sofia, Shaib, Ali H., Chouaib, Abed A., Magnussen, Helge M., Wang, Jianlong, Brose, Nils, Rhee, JeongSeop, Tirard, Marilyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393139/
https://www.ncbi.nlm.nih.gov/pubmed/37533751
http://dx.doi.org/10.3389/fnmol.2023.1115880

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393139/
https://www.ncbi.nlm.nih.gov/pubmed/37533751
http://dx.doi.org/10.3389/fnmol.2023.1115880

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