Carlo Rinaldi

This study identifies how the polyglutamine tract in the androgen receptor regulates muscle growth and atrophy by altering transcriptional activity and chromatin binding.

The paper identifies a cross-tissue splicing signature as a biomarker for ReNU syndrome, distinguishing affected individuals from controls with high specificity.

The paper develops ASO Atlas, a database of RNase H-mediated ASO sequences and their efficacy, and trains OligoAI, a deep learning model to predict ASO efficacy based on sequence and chemical features, reducing screening effort by 5.72-fold.

The paper presents a framework for prioritizing targets and patients for antisense oligonucleotide therapies in rare diseases, focusing on equitable and systematic decision-making.

This paper introduces CRISPR MiRAGE, a miRNA-sensing guide RNA system that enables tissue-specific gene editing by modulating CRISPR activity based on miRNA signatures.

This paper develops CRISPR-Lock, a CRISPR/dCas13 RNA blocker that disrupts miRNA-target interactions and rescues DM1 pathology by correcting splicing biomarkers and reducing nuclear foci.

This study shows polyglutamine-expanded androgen receptor disrupts muscle function by altering calcium dynamics and excitation-contraction coupling gene expression, which can be reversed by treatment.

The paper measures plasma pNfH levels in SBMA and ALS patients, finding no increase in SBMA but a significant increase in ALS, suggesting pNfH could differentiate the two diseases.