Publications by authors named "Erda Alizoti"
Variants in CRYAB can lead to desmin-related (cardio-)myopathy (DRM), a genetic muscle disorder with no curative treatment available. We introduced a homozygous CRYAB c.358G > A (p.
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- The study investigates the effects of a missense genetic variant in the ACTN2 gene, linked to various forms of cardiomyopathy, particularly hypertrophic cardiomyopathy.
- Using CRISPR/Cas9, researchers created two types of human stem cell-derived cardiomyocyte lines to compare the normal and mutated ACTN2 genes.
- Results showed that the mutated ACTN2 led to structural and functional issues in cardiomyocytes, including increased multinucleation and protein aggregation, and activated proteolytic systems to manage these problems, suggesting a link to cardiac diseases.
The ubiquitin-proteasome system (UPS) and autophagy-lysosomal pathway (ALP) are two major protein degradation pathways in eukaryotic cells. Initially considered as two independent pathways, there is emerging evidence that they can work in concert. As alterations of UPS and ALP function can contribute to neurodegenerative disorders, cancer and cardiac disease, there is great interest in finding targets that modulate these catabolic processes.
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