The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy
Abstract
:1. Introduction
2. Results
2.1. Patient-Derived Fibroblasts Cannot Assemble the Extracellular Collagen VI Network
2.2. The Endo-Lysosomal System Homeostasis Is Altered in COL6-RD Patient-Derived Fibroblasts
2.3. Col VI Mutation Induces Hyper-Phosphorylation of the CMG2 Receptor in Humans
3. Discussion
4. Materials and Methods
4.1. Human Fibroblasts
4.2. CRISPR-Cas9
4.3. Immunofluorescence and Stimulated Emission Depletion (STED) Microscopy
4.4. Soft X-ray Cryo-Tomography
4.5. Western Blotting and Immunoprecipitation
4.6. Statistical Analysis
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Castroflorio, E.; Pérez Berná, A.J.; López-Márquez, A.; Badosa, C.; Loza-Alvarez, P.; Roldán, M.; Jiménez-Mallebrera, C. The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy. Int. J. Mol. Sci. 2022, 23, 7651. https://doi.org/10.3390/ijms23147651
Castroflorio E, Pérez Berná AJ, López-Márquez A, Badosa C, Loza-Alvarez P, Roldán M, Jiménez-Mallebrera C. The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy. International Journal of Molecular Sciences. 2022; 23(14):7651. https://doi.org/10.3390/ijms23147651
Chicago/Turabian StyleCastroflorio, Enrico, Ana Joaquina Pérez Berná, Arístides López-Márquez, Carmen Badosa, Pablo Loza-Alvarez, Mónica Roldán, and Cecilia Jiménez-Mallebrera. 2022. "The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy" International Journal of Molecular Sciences 23, no. 14: 7651. https://doi.org/10.3390/ijms23147651