Publications by authors named "Elisa Marzuolo"
Article Synopsis
- Recessive dystrophic epidermolysis bullosa (RDEB) is a rare skin disorder caused by mutations in the COL7A1 gene, leading to persistent blistering and fibrosis without a cure.
- The study focuses on the NOTCH signaling pathway, which is implicated in the fibrosis associated with RDEB, and examines the effects of γ-secretase inhibitors, specifically DAPT and PF-03084014 (nirogacestat), on RDEB fibroblasts.
- Results show that inhibiting NOTCH signaling with PF-03084014 reduces fibrotic traits such as contractility and collagen secretion in RDEB fibroblasts, offering potential new therapeutic strategies for managing RDEB-associated fibrosis.
Epidermolysis bullosa simplex (EBS) with cardiomyopathy (EBS-KLHL24) is an EBS subtype caused by dominantly inherited, gain-of-function mutations in the gene encoding for the ubiquitin-ligase KLHL24, which addresses specific proteins to proteasomal degradation. EBS-KLHL24 patients are born with extensive denuded skin areas and skin fragility. Whilst skin fragility rapidly ameliorates, atrophy and scarring develop over time, accompanied by life-threatening cardiomyopathy.
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