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Article

Influence of the Nucleo-Shuttling of the ATM Protein on the Response of Skin Fibroblasts from Marfan Syndrome to Ionizing Radiation.

International journal of molecular sciences - 16 Nov 2024

Jakubowska Dagmara, Al-Choboq Joëlle, Sonzogni Laurène, Bourguignon Michel, Slonina Dorota, Foray Nicolas

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder affecting multiple systems, such as skeletal, cardiovascular, and ocular systems. MFS is predominantly caused by mutations in the FBN1 gene, which encodes the fibrillin-1 protein, crucial for connective-tissue integrity. FBN1 mutations lead to defective fibrillin, resulting in structurally compromised connective tissues. Additionally, these...

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Identifiers

PMID: 39596376
DOI: 10.3390/ijms252212313
PMCID: PMC11594578

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