#SeminarIRSJD · CRISPR-rescue of intracellular pathological phenotypes in congenital muscular disorders triggered by Collagen VI mutation

• Dr. Enrico Castroflorio. Researcher in ICFO & collaborator researcher in Applied research in neuromuscular diseases at IRSJD.

If you wish to obtain the connection link, contact with frecerca.comunicacio(ELIMINAR)@sjd.es (exclusive seminar for staff of the institution.)

Abstract

I will explain why super-resolution microscopy can speed up and ameliorate current diagnostic methods. As an example, I will present data regarding the extracellular and intracellular defects we found in human fibroblasts derived from patients with Collagen VI-related congenital muscular dystrophy. We were able to reveal the molecular mechanism linking a common Collagen VI mutation with the altered intracellular homeostasis of patient-derived fibroblasts. Importantly, we rescued all the pathological phenotypes observed using a CRISPR/Cas9 gene-editing tool developed in our lab. In summary, we demonstrate that collagen VI is an important intracellular homeostasis regulatory protein in fibroblasts.