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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| 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 |