Article
Fibrillin-1 G234D mutation in the hybrid1 domain causes tight skin associated with dysregulated elastogenesis and increased collagen cross-linking in mice.
Matrix biology : journal of the International Society for Matrix Biology - 1 Feb 2025
Hossain Asm Sakhawat, Clarin Maria Thea Rane Dela Cruz, Kimura Kenichi, Biggin George, Taga Yuki, Uto Koichiro, Yamagishi Ayana, Motoyama Eri, Narenmandula, Mizuno Kazunori, Nakamura Chikashi, Asano Keiichi, Ohtsuki Sumio, Nakamura Tomoyuki, Kanki Sachiko, Baldock Clair, Raja Erna, Yanagisawa Hiromi
Abstract excerpt
Fibrillin-1, an extracellular matrix (ECM) protein encoded by the FBN1 gene, serves as a microfibril scaffold crucial for elastic fiber formation and homeostasis in pliable tissue such as the skin. Aside from causing Marfan syndrome, some mutations in FBN1 result in scleroderma, marked by hardened and thicker skin which limits joint mobility. Here, we describe a tight skin phenotype in the Fbn1G234D/G234D mice...
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