New papers published

We would like to share with you the good news that we have recently had two papers published reporting results of projects done in our lab.

First, Esther Fernández-Simón has published a paper in Frontiers in Cell and Developmental Biology titled "Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy".

This has been a collaboration between our laboratory and the Bioinformatics Unit of Newcastle University. Esther is reporting the changes observed in the transcriptome of FAP cells obtained from DMD muscle biopsies compared to control biopsies.

We have recently published our work on single cell RNA sequencing FAPs from Duchenne Muscular Dystrophy patients. In that work we have used scRNAseq to elucidate the differences in the transcriptional profile of isolated FAPs from healthy and DMD patients. Our results shows that there are transcription differences in the gene signatures from both groups. More in detail, we found that genes related to system development, wound healing, and cytoskeletal organization were upregulated in control FAPs, while extracellular organization, degradation, and collagen degradation were upregulated in DMD FAP. This work opens the door to study new cellular coordination to further understand the regulation of muscle homeostasis and degeneration that occurs in muscular dystrophies. - Esther Fernández-Simón

Link to paper

Second, Alexandra Monceau and Rasya Gokul Nath have published a paper in Brain titled "Decoding the muscle transcriptome of patients with late onset Pompe disease reveals markers of disease progression".

This has been a collaboration between our centre and several neuromuscular units in Europe. Alex and Rasya have studied muscle biopsies of patients with Pompe disease using two new technologies (single nuclei RNA seq and GeoMx). This has allowed them to identify the temporal dinamics and spatial distribution of transcriptomic changes observed in the muscle samples of patients with this disease.

Link to paper