Teresinha Evangelista

The actomyosin cortex controls t-tubule remodeling in muscle

This study identifies the actomyosin cortex, regulated by Arpc5, as critical for t-tubule remodeling in muscle, linking it to muscle function and disorders.

Novel variants in ryanodine receptor type 3 predispose to acute rhabdomyolysis due to impaired autophagy

This study identifies rare RYR3 variants causing recurrent rhabdomyolysis by impairing autophagy and mitochondrial function, highlighting RyR3's role in muscle stress adaptation.

Progressive muscle metabolic reprogramming in asymptomatic ALS gene mutation carriers

Skeletal muscle from individuals at elevated genetic risk for ALS/FTD undergoes progressive metabolic reprogramming far before disease onset.

Spatial and Multiomic profiling of muscle regeneration dynamics in Duchenne Muscular Dystrophy

This study identifies NOTCH3 and GLIS3 as contributors to regeneration impairment in Duchenne Muscular Dystrophy using spatial transcriptomics and multiomic profiling.

DAB2 as a biomarker and mechanistic link between lipid dysregulation and disease progression in LGMD R2

Targeting lysosomal damage is a new therapeutic perspective for Duchenne Muscular Dystrophy

This study identifies lysosomal damage as a novel mechanism in Duchenne Muscular Dystrophy and shows that combining trehalose with gene therapy improves outcomes.

IMPatienT: an Integrated web application to digitize, process and explore Multimodal PATIENt daTa.

IMPatienT is a web application that digitizes, processes, and explores multimodal patient data, enabling EDA and diagnosis suggestions through a modular architecture.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.