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



Seminario exclusivo para personal de la institución. Si deseas obtener el enlace de conexión contacta con frecerca.comunicacio(ELIMINAR)@sjd.es


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.

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