Eleonora Lamantea

This study uses single-cell RNA sequencing to analyze mtDNA heteroplasmy in fibroblasts, revealing cell-to-cell variability and sample-specific transcriptional responses.

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.