The BAF A12T mutation disrupts lamin A/C interaction, impairing robust repair of nuclear envelope ruptures in Nestor–Guillermo progeria syndrome cells

Nestor–Guillermo progeria syndrome (NGPS) is caused by a homozygous alanine-to-threonine mutation at position 12 (A12T) in barrier-to-autointegration factor (BAF). It is characterized by accelerated aging with severe skeletal abnormalities. BAF is an essential protein binding to DNA and nuclear enve...

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Detalles Bibliográficos
Autores principales: Janssen, Anne, Marcelot, Agathe, Breusegem, Sophia, Legrand, Pierre, Zinn-Justin, Sophie, Larrieu, Delphine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Genome Integrity, Repair and Replication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458464/
https://www.ncbi.nlm.nih.gov/pubmed/36039758
http://dx.doi.org/10.1093/nar/gkac726

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458464/
https://www.ncbi.nlm.nih.gov/pubmed/36039758
http://dx.doi.org/10.1093/nar/gkac726

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