Fabry Cardiomyopathy: Myocardial Fibrosis, Inflammation, and Down‐Regulation of Mannose‐6‐Phosphate Receptors Cause Low Accessibility to Enzyme Replacement Therapy
In spite of enzyme delivery to cardiac tissue, our study shows a low accessibility to enzyme replacement therapy of cardiomyocytes affected by advanced Fabry disease cardiomyopathy. It is sustained by myocardial fibrosis, inflammation, and severe down-regulation of mannose-6-phosphate receptors.
Authors
- Emanuela Frustaci
- Romina Verardo (ORCID: https://orcid.org/0000-0001-5542-567X)
- Cristina Chimenti (ORCID: https://orcid.org/0000-0001-5954-3796)
- Michele Magnocavallo (ORCID: https://orcid.org/0000-0001-9883-0114)
- Matteo Antonio Russo (ORCID: https://orcid.org/0000-0002-5847-6015)
- Andrea Frustaci (ORCID: https://orcid.org/0000-0002-5748-0725)
Institutions
- Parco Tecnologico Padano (IT)
- Istituto Nazionale per le Malattie Infettive Lazzaro Spallanzani (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Journal of the American Heart Association
- Published
- 2025-02-08
- DOI
- https://doi.org/10.1161/jaha.124.036815
- Citations
- 5
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 5.82