Rossella Ginevra Tupler

Stage-dependent chromatin accessibility remodeling defines an architectural state in facioscapulohumeral muscular dystrophy myoblasts

The paper identifies a stage-specific chromatin accessibility state in FSHD myoblasts that resolves during differentiation, showing architectural remodeling uncoupled from DUX4 target loci.

A novel family of lncRNAs relate facioscapulohumeral muscular dystrophy to nucleolar architecture and protein synthesis

This study identifies a family of lncRNAs, including FRG2A, whose overexpression in FSHD patients disrupts nucleolar architecture and reduces protein synthesis, linking FSHD to muscle wasting.

Post-transcriptional RNA stabilization of telomere-proximal RNAs FRG2, DBET, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length.

The paper investigates how D4Z4 repeat length and genotoxic stress affect RNA stability and chromatin association of genes at the 4q35 locus.

A human pan-genomic analysis reconfigures the genetic and epigenetic make up of facioscapulohumeral muscular dystrophy

This study uses pan-genomic data to analyze D4Z4 repeats and CpG methylation in FSHD, finding low methylation correlates with SMCHD1 variants but not clinical phenotypes.