Mutation-Specific Cardiomyocyte Lines from Patients with Fabry Disease: A Sustainable In Vitro Model to Investigate Structure, Function, and Disease Mechanisms
Background: Fabry disease (FD) results from pathogenic <i>GLA</i> variants, causing lysosomal α-galactosidase A (α-GalA) deficiency and sphingolipid ceramide trihexoside (Gb3 or THC) accumulation. Disease phenotype varies widely but cardiomyopathy is commonly life-limiting. As a multisys...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-04-01
|
| Series: | International Journal of Translational Medicine |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2673-8937/5/2/15 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|