Alexeev, V., Arita, M., Donahue, A., Bonaldo, P., Chu, M.-L., and Igoucheva, O. (2014). Human Adipose-Derived Stem Cell Transplantation as a Potential Therapy for Collagen VI-related Congenital Muscular Dystrophy. Stem Cel Res. Ther. 5, 21. doi:10.1186/scrt411
Angelin, A., Tiepolo, T., Sabatelli, P., Grumati, P., Bergamin, N., Golfieri, C., et al. (2007). Mitochondrial Dysfunction in the Pathogenesis of Ullrich Congenital Muscular Dystrophy and Prospective Therapy with Cyclosporins. Pnas 104, 991–996. doi:10.1073/pnas.0610270104
Baghdadi, M. B., Castel, D., Machado, L., Fukada, S.-i., Birk, D. E., Relaix, F., et al. (2018). Reciprocal Signalling by Notch-Collagen V-CALCR Retains Muscle Stem Cells in Their Niche. Nature 557, 714–718. doi:10.1038/s41586-018-0144-9
Bernardi, P., and Bonaldo, P. (2008). Dysfunction of Mitochondria and Sarcoplasmic Reticulum in the Pathogenesis of Collagen VI Muscular Dystrophies. Ann. N. Y. Acad. Sci. 1147, 303–311. doi:10.1196/annals.1427.009
Bernardi, P., and Bonaldo, P. (2013). Mitochondrial Dysfunction and Defective Autophagy in the Pathogenesis of Collagen VI Muscular Dystrophies. Cold Spring Harbor Perspect. Biol. 5, a011387. doi:10.1101/cshperspect.a011387
Bolduc, V., Foley, A. R., Solomon-Degefa, H., Sarathy, A., Donkervoort, S., Hu, Y., et al. (2019). A Recurrent COL6A1 Pseudoexon Insertion Causes Muscular Dystrophy and Is Effectively Targeted by Splice-Correction Therapies. JCI insight 4, e124403. doi:10.1172/jci.insight.124403
Bolduc, V., Zou, Y., Ko, D., and Bönnemann, C. G. (2014). siRNA-Mediated Allelespecific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy. Mol. Ther. - Nucleic Acids 3, e147. doi:10.1038/ mtna.2013.74
Bonaldo, P., Braghetta, P., Zanetti, M., Piccolo, S., Volpin, D., and Bressan, G. M. (1998). Collagen VI Deficiency Induces Early Onset Myopathy in the Mouse: an Animal Model for Bethlem Myopathy. Hum. Mol. Genet. 7, 2135–2140. doi:10.1093/hmg/7.13.2135
Bönnemann, C. G. (2011). The Collagen VI-related Myopathies. Handb. Clin. Neurol. 101, 81–96. doi:10.1016/B978-0-08-045031-5.00005-0
Castagnaro, S., Pellegrini, C., Pellegrini, M., Chrisam, M., Sabatelli, P., Toni, S., et al. (2016). Autophagy Activation in COL6 Myopathic Patients by a Low Protein-Diet Pilot Trial. Autophagy 12, 2484–2495. doi:10.1080/15548627.2016.1231279
Cattaruzza, S., Nicolosi, P. A., Braghetta, P., Pazzaglia, L., Benassi, M. S., Picci, P., et al. (2013). NG2/CSPG4-collagen Type VI Interplays Putatively Involved in the Microenvironmental Control of Tumour Engraftment and Local Expansion. J. Mol. Cel Biol. 5, 176–193. doi:10.1093/jmcb/mjt010
Chal, J., and Pourquié, O. (2017). Making Muscle: Skeletal Myogenesis In Vivo and In Vitro. Development 144, 2104–2122. doi:10.1242/dev.151035
Chijimatsu, R., Ikeya, M., Yasui, Y., Ikeda, Y., Ebina, K., Moriguchi, Y., et al. (20172017). Characterization of Mesenchymal Stem Cell-like Cells Derived from Human iPSCs via Neural Crest Development and Their Application for Osteochondral Repair. Stem Cell Int. 2017, 1–18. doi:10.1155/2017/1960965
Doane, K. J., Howell, S. J., and Birk, D. E. (1998). Identification and Functional Characterization of Two Type VI Collagen Receptors, Alpha 3 Beta 1 Integrin and NG2, during Avian Corneal Stromal Development. Invest. Ophthalmol. Vis.Sci. 39, 263–275.
Fukuta, M., Nakai, Y., Kirino, K., Nakagawa, M., Sekiguchi, K., Nagata, S., et al. (2014). Derivation of Mesenchymal Stromal Cells from Pluripotent Stem Cells through a Neural Crest Lineage Using Small Molecule Compounds with Defined media. PLoS One 9, e112291. doi:10.1371/journal.pone.0112291
Gattazzo, F., Molon, S., Morbidoni, V., Braghetta, P., Blaauw, B., Urciuolo, A., et al. (2014). Cyclosporin A Promotes In Vivo Myogenic Response in Collagen VIDeficient Myopathic Mice. Front. Aging Neurosci. 6, 244. doi:10.3389/fnagi.2014.00244
Gnocchi, V. F., White, R. B., Ono, Y., Ellis, J. A., and Zammit, P. S. (2009). Further Characterisation of the Molecular Signature of Quiescent and Activated Mouse Muscle Satellite Cells. PLoS One 4, e5205. doi:10.1371/journal.pone.0005205
Gokhin, D. S., Ward, S. R., Bremner, S. N., and Lieber, R. L. (2008). Quantitative Analysis of Neonatal Skeletal Muscle Functional Improvement in the Mouse. J. Exp. Biol. 211, 837–843. doi:10.1242/jeb.014340
Götherström, C., Westgren, M., Shaw, S. W. S., Åström, E., Biswas, A., Byers, P. H., et al. (2014). Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: a Two-center Experience. Stem Cell translational Med. 3, 255–264. doi:10.5966/sctm.2013-0090
Gourraud, P.-A., Gilson, L., Girard, M., and Peschanski, M. (2012). The Role of Human Leukocyte Antigen Matching in the Development of Multiethnic "haplobank" of Induced Pluripotent Stem Cell Lines. Stem Cells 30, 180–186. doi:10.1002/stem.772
Grumati, P., Coletto, L., Sabatelli, P., Cescon, M., Angelin, A., Bertaggia, E., et al. (2010). Autophagy Is Defective in Collagen VI Muscular Dystrophies, and its Reactivation Rescues Myofiber Degeneration. Nat. Med. 16, 1313–1320. doi:10.1038/nm.2247
Guillot, P. V., Abass, O., Bassett, J. H. D., Shefelbine, S. J., Bou-Gharios, G., Chan, J., et al. (2008). Intrauterine Transplantation of Human Fetal Mesenchymal Stem Cells from First-Trimester Blood Repairs Bone and Reduces Fractures in Osteogenesis Imperfecta Mice. Blood 111, 1717–1725. doi:10.1182/blood2007-08-105809
Hata, T., Kanenishi, K., Mori, N., AboEllail, M. A. M., Hanaoka, U., Koyano, K., et al. (2018). Prediction of Postnatal Developmental Disabilities Using the Antenatal Fetal Neurodevelopmental Test: KANET Assessment. J. Perinat. Med. 47, 77–81. doi:10.1515/jpm-2018-0169
Hicks, D., Lampe, A. K., Laval, S. H., Allamand, V., Jimenez-Mallebrera, C., Walter, M. C., et al. (2009). Cyclosporine A Treatment for Ullrich Congenital Muscular Dystrophy: a Cellular Study of Mitochondrial Dysfunction and its rescue. Brain 132, 147–155. doi:10.1093/brain/awn289
Higuchi, I., Horikiri, T., Niiyama, T., Suehara, M., Shiraishi, T., Hu, J., et al. (2003). Pathological Characteristics of Skeletal Muscle in Ullrich’s Disease with Collagen VI Deficiency. Neuromuscul. Disord. 13, 310–316. doi:10.1016/ s0960-8966(02)00282-1
Irwin, W. A., Bergamin, N., Sabatelli, P., Reggiani, C., Megighian, A., Merlini, L., et al. (2003). Mitochondrial Dysfunction and Apoptosis in Myopathic Mice with Collagen VI Deficiency. Nat. Genet. 35, 367–371. doi:10.1038/ng1270
Itoh, Y., Murakami, T., Mori, T., Agata, N., Kimura, N., Inoue-Miyazu, M., et al. (2017). Training at Non-damaging Intensities Facilitates Recovery from Muscle Atrophy. Muscle Nerve 55, 243–253. doi:10.1002/mus.25218
Jerkovic, R., Argentini, C., Serrano-Sanchez, A., Cordonnier, C., and Schiaffino, S. (1997). Early Myosin Switching Induced by Nerve Activity in Regenerating Slow Skeletal Muscle. Cell Struct. Funct. 22, 147–153. doi:10.1247/csf.22.147
Kalhovde, J. M., Jerkovic, R., Sefland, I., Cordonnier, C., Calabria, E., Schiaffino, S., et al. (2005). ’Fast’ and ’slow’ Muscle Fibres in Hindlimb Muscles of Adult Rats Regenerate from Intrinsically Different Satellite Cells. J. Physiol. 562, 847–857. doi:10.1113/jphysiol.2004.073684
Kanaoka, M., Yamaguchi, Y., Komitsu, N., Feghali-Bostwick, C. A., Ogawa, M., Arima, K., et al. (2018). Pro-fibrotic Phenotype of Human Skin Fibroblasts Induced by Periostin via Modulating TGF-β Signaling. J. Dermatol. Sci. 90, 199–208. doi:10.1016/j.jdermsci.2018.02.001
Karagiannis, P., Takahashi, K., Saito, M., Yoshida, Y., Okita, K., Watanabe, A., et al. (2019). Induced Pluripotent Stem Cells and Their Use in Human Models of Disease and Development. Physiol. Rev. 99, 79–114. doi:10.1152/ physrev.00039.2017
Lamandé, S. R., and Bateman, J. F. (2018). Collagen VI Disorders: Insights on Form and Function in the Extracellular Matrix and beyond. Matrix Biol. 71-72, 348–367. doi:10.1016/j.matbio.2017.12.008
Lamandé, S. R., Bateman, J. F., Hutchison, W., Gardner, R. J. M., Bower, S. P., Byrne, E., et al. (1998). Reduced Collagen VI Causes Bethlem Myopathy: a Heterozygous COL6A1 Nonsense Mutation Results in mRNA Decay and Functional Haploinsufficiency. Hum. Mol. Genet. 7, 981–989. doi:10.1093/hmg/7.6.981
Lampe Ak, F. K., and Bushby, K. M. (2004). “Collagen Type VI-Related Disorders,” in GeneReviews® [Internet]. MP Adam, HH Ardinger, RA Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa, et al. (Seattle (WA): University of Washington, Seattle), 1993–2020. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1503/.
Li, C., Gao, H. L., Shimokawa, T., Nabeka, H., Hamada, F., Araki, H., et al. (2013). Prosaposin Expression in the Regenerated Muscles of Mdx and CardiotoxinTreated Mice. Histol. Histopathol. 28, 875–892. doi:10.14670/hh-28.875
Marrosu, E., Ala, P., Muntoni, F., and Zhou, H. (2017). Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy. Mol. Ther. - Nucleic Acids 8, 416–427. doi:10.1016/j.omtn.2017.07.006
Matsumoto, Y., Ikeya, M., Hino, K., Horigome, K., Fukuta, M., Watanabe, M., et al. (2015). New Protocol to Optimize iPS Cells for Genome Analysis of Fibrodysplasia Ossificans Progressiva. Stem Cells 33, 1730–1742. doi:10.1002/stem.1981
Merlini, L., Angelin, A., Tiepolo, T., Braghetta, P., Sabatelli, P., Zamparelli, A., et al. (2008). Cyclosporin A Corrects Mitochondrial Dysfunction and Muscle Apoptosis in Patients with Collagen VI Myopathies. Pnas 105, 5225–5229. doi:10.1073/pnas.0800962105
Merlini, L., Sabatelli, P., Armaroli, A., Gnudi, S., Angelin, A., Grumati, P., et al. (20112011). Cyclosporine A in Ullrich Congenital Muscular Dystrophy: LongTerm Results. Oxidative Med. Cell Longevity 2011, 1–10. doi:10.1155/2011/139194
Nadeau, A., Kinali, M., Main, M., Jimenez-Mallebrera, C., Aloysius, A., Clement, E., et al. (2009). Natural History of Ullrich Congenital Muscular Dystrophy.
Neurology 73, 25–31. doi:10.1212/WNL.0b013e3181aae851 Noguchi, S., Ogawa, M., Kawahara, G., Malicdan, M. C., and Nishino, I. (2014). Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. Mol. Ther. - Nucleic Acids 3, e171. doi:10.1038/mtna.2014.22
Noguchi, S., Ogawa, M., Malicdan, M. C., Nonaka, I., and Nishino, I. (2017). Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy. EBioMedicine 15, 193–202. doi:10.1016/j.ebiom.2016.12.011
Paco, S., Ferrer, I., Jou, C., Cusí, V., Corbera, J., Torner, F., et al. (2012). Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-Κb Signaling. J. Neuropathol. Exp. Neurol. 71, 894–906. doi:10.1097/ NEN.0b013e31826c6f7b
Palma, E., Tiepolo, T., Angelin, A., Sabatelli, P., Maraldi, N. M., Basso, E., et al. (2009). Genetic Ablation of Cyclophilin D Rescues Mitochondrial Defects and
Prevents Muscle Apoptosis in Collagen VI Myopathic Mice. Hum. Mol. Genet. 18, 2024–2031. doi:10.1093/hmg/ddp126
Roman, W., and Gomes, E. R. (2018). Nuclear Positioning in Skeletal Muscle.
Semin. Cel Develop. Biol. 82, 51–56. doi:10.1016/j.semcdb.2017.11.005
Schiaffino, S., Rossi, A. C., Smerdu, V., Leinwand, L. A., and Reggiani, C. (2015). Developmental Myosins: Expression Patterns and Functional Significance. Skeletal muscle 5, 22. doi:10.1186/s13395-015-0046-6
Takenaka-Ninagawa, N., Kim, J., Zhao, M., Sato, M., Jonouchi, T., Goto, M., et al. (2021). Collagen-VI Supplementation by Cell Transplantation Improves Muscle Regeneration in Ullrich Congenital Muscular Dystrophy Model Mice. Stem Cel. Res. Ther. 12, 446. doi:10.1186/s13287-021-02514-3
Tiepolo, T., Angelin, A., Palma, E., Sabatelli, P., Merlini, L., Nicolosi, L., et al. (2009). The Cyclophilin Inhibitor Debio 025 Normalizes Mitochondrial Function, Muscle Apoptosis and Ultrastructural Defects inCol6a1−/−myopathic Mice. Br. J. Pharmacol. 157, 1045–1052. doi:10.1111/j.1476- 5381.2009.00316.x
Tillet, E., Gential, B., Garrone, R., and Stallcup, W. B. (2002). NG2 Proteoglycan Mediates ?1 Integrin-independent Cell Adhesion and Spreading on Collagen VI. J. Cel. Biochem. 86, 726–736. doi:10.1002/jcb.10268
Uezumi, A., Ito, T., Morikawa, D., Shimizu, N., Yoneda, T., Segawa, M., et al. (2011). Fibrosis and Adipogenesis Originate from a Common Mesenchymal Progenitor in Skeletal Muscle. J. Cel Sci. 124, 3654–3664. doi:10.1242/jcs.086629
Urciuolo, A., Quarta, M., Morbidoni, V., Gattazzo, F., Molon, S., Grumati, P., et al. (2013). Collagen VI Regulates Satellite Cell Self-Renewal and Muscle Regeneration. Nat. Commun. 4, 1964. doi:10.1038/ncomms2964
Weintraub, H. (1993). The MyoD Family and Myogenesis: Redundancy, Networks, and Thresholds. Cell 75, 1241–1244. doi:10.1016/0092- 8674(93)90610-3
Xu, H., Wang, B., Ono, M., Kagita, A., Fujii, K., Sasakawa, N., et al. (2019). Targeted Disruption of HLA Genes via CRISPR-Cas9 Generates iPSCs with Enhanced Immune Compatibility. Cell stem cell 24, 566–578. e567. doi:10.1016/ j.stem.2019.02.005
Yonekawa, T., Komaki, H., Okada, M., Hayashi, Y. K., Nonaka, I., Sugai, K., et al. (2013). Rapidly Progressive Scoliosis and Respiratory Deterioration in Ullrich Congenital Muscular Dystrophy. J. Neurol. Neurosurg. Psychiatry 84, 982–988. doi:10.1136/jnnp-2012-304710
Yonekawa, T., and Nishino, I. (2015). Ullrich Congenital Muscular Dystrophy: Clinicopathological Features, Natural History and Pathomechanism(s). J. Neurol. Neurosurg. Psychiatry 86, 280–287. doi:10.1136/jnnp-2013-307052
Yoshimoto, Y., Ikemoto-Uezumi, M., Hitachi, K., Fukada, S.-i., and Uezumi, A. (2020). Methods for Accurate Assessment of Myofiber Maturity during Skeletal Muscle Regeneration. Front. Cel Dev. Biol. 8, 267. doi:10.3389/fcell.2020.00267
Zou, Y., Zhang, R.-Z., Sabatelli, P., Chu, M.-L., and Bönnemann, C. G. (2008). Muscle Interstitial Fibroblasts Are the Main Source of Collagen VI Synthesis in Skeletal Muscle: Implications for Congenital Muscular Dystrophy Types Ullrich and Bethlem. J. Neuropathol. Exp. Neurol. 67, 144–154. doi:10.1097/nen.0b013e3181634ef7