Denis Furling

The paper maps single-nucleotide resolution m⁶A methylation in human myogenic differentiation, revealing dynamic epitranscriptomic changes and species-specific patterns.

This study shows MEG3 is upregulated in DM1 and exhibits nuclear retention, with antisense conjugates correcting MEG3 levels in mice.

This study shows that abnormal splicing of SORBS1 exon 25 in DM1 contributes to neuromuscular junction formation and stability issues in skeletal muscle.

This study shows CCG interruptions in DM1 are unstable and hypermethylated, contributing to CTG repeat stabilization.

This study uses TALENs to contract CTG repeats in DM1 cells, achieving 68% contraction with a recoded TALEN, while SaCas9 failed, and identifies potential off-target effects.

The paper develops an amplification-free long-read sequencing method using CRISPR/Cas9 to accurately measure CTG repeat expansions in DM1 patients, identifying a CCG-enriched expanded allele.

This study identifies dysregulated circular RNAs in myotonic dystrophy type 1 patients using RNA-sequencing and qPCR, showing tissue-specific expression patterns and potential as biomarkers.