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

• Dr. Enrico Castroflorio. Investigador de l’ICFO i investigador col·laborador al grup Investigació aplicada en malalties neuromusculars.

Seminari exclusiu per personal de la institució. Si desitges obtenir l'enllaç de connexió contacta amb frecerca.comunicacio(ELIMINAR)@sjd.es

Resum

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.