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Article

A human progeria-associated BAF-1 mutation modulates gene expression and accelerates aging in C. elegans.

The EMBO journal - 1 Nov 2024

Romero-Bueno Raquel, Fragoso-Luna Adrián, Ayuso Cristina, Mellmann Nina, Kavsek Alan, Riedel Christian G, Ward Jordan D, Askjaer Peter

Abstract excerpt

Alterations in the nuclear envelope are linked to a variety of rare diseases termed laminopathies. A single amino acid substitution at position 12 (A12T) of the human nuclear envelope protein BAF (Barrier to Autointegration Factor) causes Néstor-Guillermo Progeria Syndrome (NGPS). This premature ageing condition leads to growth retardation and severe skeletal defects, but the underlying mechanisms are unknown....

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Identifiers

PMID: 39367234
DOI: 10.1038/s44318-024-00261-8
PMCID: PMC11574047

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A human progeria-associated BAF-1 mutation modulates gene expression and accelerates aging in C. elegans.PMID 39367234Read ↗

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