Giorgio A. Tasca

R2T2P integrates transcriptomics and proteomics data to study FSHD, revealing novel RNAs and their impact on translation and protein levels.

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

This study identifies mitochondrial respiratory chain dysfunction and reverse electron transfer as key drivers of DUX4-induced toxicity in FSHD, suggesting RET inhibition as a therapeutic target.

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

The paper investigates ACTN2 variants causing distal myopathy and hypertrophic cardiomyopathy, finding that frameshift variants leading to protein extension cause aggregation, while missense variants do not.

This study uses single nuclei RNA sequencing to analyze DMD muscle samples and identifies clinical-genetic correlations by comparing gene expression profiles across cell populations.

This study investigates how mutations in POPDC proteins affect their heteromeric interaction and membrane trafficking, finding that complex formation is essential for membrane targeting.