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Article

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

Nucleic acids research - 9 Sept 2022

Janssen Anne, Marcelot Agathe, Breusegem Sophia, Legrand Pierre, Zinn-Justin Sophie, Larrieu Delphine

Abstract excerpt

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 envelope (NE) proteins, involved in NE rupture repair. Here, we assessed the impact of BAF A12T on NE integrity using...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36039758
DOI: 10.1093/nar/gkac726
PMCID: PMC9458464

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