Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-80614-9_14
Reference76 articles.
1. Aguti S et al (2020) Exon-skipping oligonucleotides restore functional collagen VI by correcting a common COL6A1 mutation in Ullrich CMD. Mol Ther Nucleic Acids 21:205–216. https://doi.org/10.1016/j.omtn.2020.05.029
2. Aigner T et al (2002) The C5 domain of Col6A3 is cleaved off from the Col6 fibrils immediately after secretion. Biochem Biophys Res Commun 290(2):743–748. https://doi.org/10.1006/bbrc.2001.6227
3. Baker NL et al (2005) Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 14(2):279–293. https://doi.org/10.1093/hmg/ddi025
4. Baker NL et al (2007) Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol 62(4):390–405. https://doi.org/10.1002/ana.21213
5. Ball S et al (2003) Structural basis of type VI collagen dimer formation. J Biol Chem 278(17):15326–15332. https://doi.org/10.1074/jbc.M209977200
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