Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization

Nucleolin (NCL/C23; OMIM: 164035) is a major nucleolar protein that plays a critical role in multiple processes, including ribosome assembly and maturation, chromatin decondensation, and pre-rRNA transcription. Due to its diverse functions, nucleolin has frequently been implicated in pathological pr...

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Detalles Bibliográficos
Autores principales: Sheikh, Taimoor I., Harripaul, Ricardo, Vasli, Nasim, Ghadami, Majid, Santangelo, Susan L., Ayub, Muhammad, Sasanfar, Roksana, Vincent, John B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774667/
https://www.ncbi.nlm.nih.gov/pubmed/35052391
http://dx.doi.org/10.3390/genes13010051

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