A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy

Barrier-to-autointegration factor (BAF) is an essential component of the nuclear lamina. Encoded by BANF1, this DNA binding protein contributes to the regulation of gene expression, cell cycle progression, and nuclear integrity. A rare recessive BAF variant, Ala12Thr, causes the premature aging synd...

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Detalles Bibliográficos
Autores principales: Marcelot, Agathe, Rodriguez-Tirado, Felipe, Cuniasse, Philippe, Joiner, Mei-ling, Miron, Simona, Soshnev, Alexey A., Fang, Mimi, Pufall, Miles A., Mathews, Katherine D., Moore, Steven A., Zinn-Justin, Sophie, Geyer, Pamela K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099716/
https://www.ncbi.nlm.nih.gov/pubmed/36980188
http://dx.doi.org/10.3390/cells12060847

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099716/
https://www.ncbi.nlm.nih.gov/pubmed/36980188
http://dx.doi.org/10.3390/cells12060847

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