Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex, also including the accessory pro...

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Detalles Bibliográficos
Autores principales: Lyon, Gholson J., Vedaie, Marall, Beisheim, Travis, Park, Agnes, Marchi, Elaine, Gottlieb, Leah, Hsieh, Tzung-Chien, Klinkhammer, Hannah, Sandomirsky, Katherine, Cheng, Hanyin, Starr, Lois J., Preddy, Isabelle, Tseng, Marcellus, Li, Quan, Hu, Yu, Wang, Kai, Carvalho, Ana, Martinez, Francisco, Caro-Llopis, Alfonso, Gavin, Maureen, Amble, Karen, Krawitz, Peter, Marmorstein, Ronen, Herr-Israel, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10325952/
https://www.ncbi.nlm.nih.gov/pubmed/37130971
http://dx.doi.org/10.1038/s41431-023-01368-y

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