{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,15]],"date-time":"2026-02-15T09:10:40Z","timestamp":1771146640218,"version":"3.50.1"},"publisher-location":"Cham","reference-count":76,"publisher":"Springer International Publishing","isbn-type":[{"value":"9783030806132","type":"print"},{"value":"9783030806149","type":"electronic"}],"license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021]]},"DOI":"10.1007\/978-3-030-80614-9_14","type":"book-chapter","created":{"date-parts":[[2021,11,22]],"date-time":"2021-11-22T04:03:06Z","timestamp":1637553786000},"page":"311-323","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy"],"prefix":"10.1007","author":[{"given":"Shireen R.","family":"Lamand\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,11,23]]},"reference":[{"key":"14_CR1","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/j.omtn.2020.05.029","volume":"21","author":"S Aguti","year":"2020","unstructured":"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\u2013216. https:\/\/doi.org\/10.1016\/j.omtn.2020.05.029","journal-title":"Mol Ther Nucleic Acids"},{"issue":"2","key":"14_CR2","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1006\/bbrc.2001.6227","volume":"290","author":"T Aigner","year":"2002","unstructured":"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\u2013748. https:\/\/doi.org\/10.1006\/bbrc.2001.6227","journal-title":"Biochem Biophys Res Commun"},{"issue":"2","key":"14_CR3","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1093\/hmg\/ddi025","volume":"14","author":"NL Baker","year":"2005","unstructured":"Baker NL et al (2005) Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 14(2):279\u2013293. https:\/\/doi.org\/10.1093\/hmg\/ddi025","journal-title":"Hum Mol Genet"},{"issue":"4","key":"14_CR4","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1002\/ana.21213","volume":"62","author":"NL Baker","year":"2007","unstructured":"Baker NL et al (2007) Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol 62(4):390\u2013405. https:\/\/doi.org\/10.1002\/ana.21213","journal-title":"Ann Neurol"},{"issue":"17","key":"14_CR5","doi-asserted-by":"publisher","first-page":"15326","DOI":"10.1074\/jbc.M209977200","volume":"278","author":"S Ball","year":"2003","unstructured":"Ball S et al (2003) Structural basis of type VI collagen dimer formation. J Biol Chem 278(17):15326\u201315332. https:\/\/doi.org\/10.1074\/jbc.M209977200","journal-title":"J Biol Chem"},{"issue":"46","key":"14_CR6","doi-asserted-by":"publisher","first-page":"40266","DOI":"10.1074\/jbc.M111.265595","volume":"286","author":"N Beecher","year":"2011","unstructured":"Beecher N et al (2011) Collagen VI, conformation of A-domain arrays and microfibril architecture. J Biol Chem 286(46):40266\u201340275. https:\/\/doi.org\/10.1074\/jbc.M111.265595","journal-title":"J Biol Chem"},{"issue":"5","key":"14_CR7","doi-asserted-by":"publisher","first-page":"a011387","DOI":"10.1101\/cshperspect.a011387","volume":"5","author":"P Bernardi","year":"2013","unstructured":"Bernardi P, Bonaldo P (2013) Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. Cold Spring Harb Perspect Biol 5(5):a011387. https:\/\/doi.org\/10.1101\/cshperspect.a011387","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"14_CR8","doi-asserted-by":"publisher","unstructured":"Bolduc V et al (2019) A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight 4(6). https:\/\/doi.org\/10.1172\/jci.insight.124403","DOI":"10.1172\/jci.insight.124403"},{"issue":"7","key":"14_CR9","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/nrneurol.2011.81","volume":"7","author":"CG B\u00f6nnemann","year":"2011","unstructured":"B\u00f6nnemann CG (2011a) The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 7(7):379\u2013390. https:\/\/doi.org\/10.1038\/nrneurol.2011.81","journal-title":"Nat Rev Neurol"},{"key":"14_CR10","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/B978-0-08-045031-5.00005-0","volume":"101","author":"CG B\u00f6nnemann","year":"2011","unstructured":"B\u00f6nnemann CG (2011b) The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. Handb Clin Neurol 101:81\u201396. https:\/\/doi.org\/10.1016\/B978-0-08-045031-5.00005-0","journal-title":"Handb Clin Neurol"},{"issue":"4","key":"14_CR11","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1002\/ana.22087","volume":"68","author":"L Bri\u00f1as","year":"2010","unstructured":"Bri\u00f1as L et al (2010) Early onset collagen VI myopathies: genetic and clinical correlations. Ann Neurol 68(4):511\u2013520. https:\/\/doi.org\/10.1002\/ana.22087","journal-title":"Ann Neurol"},{"key":"14_CR12","doi-asserted-by":"publisher","unstructured":"Bu D et al (2019) Human endotrophin as a driver of malignant tumor growth. JCI Insight 5. https:\/\/doi.org\/10.1172\/jci.insight.125094","DOI":"10.1172\/jci.insight.125094"},{"issue":"11","key":"14_CR13","doi-asserted-by":"publisher","first-page":"1558","DOI":"10.1002\/humu.22429","volume":"34","author":"RJ Butterfield","year":"2013","unstructured":"Butterfield RJ et al (2013) Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat 34(11):1558\u20131567. https:\/\/doi.org\/10.1002\/humu.22429","journal-title":"Hum Mutat"},{"issue":"13","key":"14_CR14","doi-asserted-by":"publisher","first-page":"7516","DOI":"10.1073\/pnas.121027598","volume":"98","author":"O Camacho Vanegas","year":"2001","unstructured":"Camacho Vanegas O et al (2001) Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A 98(13):7516\u20137521. https:\/\/doi.org\/10.1073\/pnas.121027598","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"12","key":"14_CR15","doi-asserted-by":"publisher","first-page":"2484","DOI":"10.1080\/15548627.2016.1231279","volume":"12","author":"S Castagnaro","year":"2016","unstructured":"Castagnaro S et al (2016) Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial. Autophagy 12(12):2484\u20132495. https:\/\/doi.org\/10.1080\/15548627.2016.1231279","journal-title":"Autophagy"},{"key":"14_CR16","doi-asserted-by":"publisher","unstructured":"Castagnaro S et al (2020) Autophagy in the mesh of collagen VI. Matrix Biol. https:\/\/doi.org\/10.1016\/j.matbio.2020.12.004","DOI":"10.1016\/j.matbio.2020.12.004"},{"issue":"19","key":"14_CR17","doi-asserted-by":"publisher","first-page":"3525","DOI":"10.1242\/jcs.169748","volume":"128","author":"M Cescon","year":"2015","unstructured":"Cescon M et al (2015) Collagen VI at a glance. J Cell Sci 128(19):3525\u20133531. https:\/\/doi.org\/10.1242\/jcs.169748","journal-title":"J Cell Sci"},{"issue":"3","key":"14_CR18","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1007\/s00401-018-1860-9","volume":"136","author":"M Cescon","year":"2018","unstructured":"Cescon M et al (2018) Collagen VI is required for the structural and functional integrity of the neuromuscular junction. Acta Neuropathol 136(3):483\u2013499. https:\/\/doi.org\/10.1007\/s00401-018-1860-9","journal-title":"Acta Neuropathol"},{"issue":"3","key":"14_CR19","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1096\/fj.13-239533","volume":"28","author":"P Chen","year":"2014","unstructured":"Chen P et al (2014) Collagen VI regulates peripheral nerve myelination and function. FASEB J 28(3):1145\u20131156. https:\/\/doi.org\/10.1096\/fj.13-239533","journal-title":"FASEB J"},{"issue":"1","key":"14_CR20","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1007\/s00401-014-1369-9","volume":"129","author":"P Chen","year":"2015","unstructured":"Chen P et al (2015) Collagen VI regulates peripheral nerve regeneration by modulating macrophage recruitment and polarization. Acta Neuropathol 129(1):97\u2013113. https:\/\/doi.org\/10.1007\/s00401-014-1369-9","journal-title":"Acta Neuropathol"},{"issue":"12","key":"14_CR21","doi-asserted-by":"publisher","first-page":"2142","DOI":"10.1080\/15548627.2015.1108508","volume":"11","author":"M Chrisam","year":"2015","unstructured":"Chrisam M et al (2015) Reactivation of autophagy by spermidine ameliorates the myopathic defects of collagen VI-null mice. Autophagy 11(12):2142\u20132152. https:\/\/doi.org\/10.1080\/15548627.2015.1108508","journal-title":"Autophagy"},{"issue":"7","key":"14_CR22","doi-asserted-by":"publisher","first-page":"1939","DOI":"10.1002\/j.1460-2075.1989.tb03598.x","volume":"8","author":"ML Chu","year":"1989","unstructured":"Chu ML et al (1989) Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus. EMBO J 8(7):1939\u20131946","journal-title":"EMBO J"},{"key":"14_CR23","doi-asserted-by":"publisher","unstructured":"Cummings BB et al (2017) Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9(386). https:\/\/doi.org\/10.1126\/scitranslmed.aal5209","DOI":"10.1126\/scitranslmed.aal5209"},{"issue":"6","key":"14_CR24","doi-asserted-by":"publisher","first-page":"1446","DOI":"10.1086\/340608","volume":"70","author":"E Demir","year":"2002","unstructured":"Demir E et al (2002) Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 70(6):1446\u20131458. https:\/\/doi.org\/10.1086\/340608","journal-title":"Am J Hum Genet"},{"issue":"Pt 12","key":"14_CR25","doi-asserted-by":"publisher","first-page":"2551","DOI":"10.1242\/jcs.120220","volume":"126","author":"Y Fang","year":"2013","unstructured":"Fang Y et al (2013) Nonsense-mediated mRNA decay of collagen -emerging complexity in RNA surveillance mechanisms. J Cell Sci 126(Pt 12):2551\u20132560. https:\/\/doi.org\/10.1242\/jcs.120220","journal-title":"J Cell Sci"},{"issue":"29","key":"14_CR26","doi-asserted-by":"publisher","first-page":"20170","DOI":"10.1074\/jbc.M710139200","volume":"283","author":"J Fitzgerald","year":"2008","unstructured":"Fitzgerald J et al (2008) Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI). J Biol Chem 283(29):20170\u201320180. https:\/\/doi.org\/10.1074\/jbc.M710139200","journal-title":"J Biol Chem"},{"issue":"10","key":"14_CR27","doi-asserted-by":"publisher","first-page":"1893","DOI":"10.1093\/hmg\/8.10.1893","volume":"8","author":"PA Frischmeyer","year":"1999","unstructured":"Frischmeyer PA, Dietz HC (1999) Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 8(10):1893\u20131900. https:\/\/doi.org\/10.1093\/hmg\/8.10.1893","journal-title":"Hum Mol Genet"},{"issue":"2","key":"14_CR28","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1042\/bj2110303","volume":"211","author":"H Furthmayr","year":"1983","unstructured":"Furthmayr H et al (1983) Electron-microscopical approach to a structural model of intima collagen. Biochem J 211(2):303\u2013311. https:\/\/doi.org\/10.1042\/bj2110303","journal-title":"Biochem J"},{"issue":"9","key":"14_CR29","doi-asserted-by":"publisher","first-page":"3176","DOI":"10.1172\/JCI83147","volume":"126","author":"A Gaggar","year":"2016","unstructured":"Gaggar A, Weathington N (2016) Bioactive extracellular matrix fragments in lung health and disease. J Clin Invest 126(9):3176\u20133184. https:\/\/doi.org\/10.1172\/JCI83147","journal-title":"J Clin Invest"},{"issue":"16","key":"14_CR30","doi-asserted-by":"publisher","first-page":"10658","DOI":"10.1074\/jbc.M709540200","volume":"283","author":"SK Gara","year":"2008","unstructured":"Gara SK et al (2008) Three novel collagen VI chains with high homology to the alpha3 chain. J Biol Chem 283(16):10658\u201310670. https:\/\/doi.org\/10.1074\/jbc.M709540200","journal-title":"J Biol Chem"},{"issue":"3","key":"14_CR31","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1002\/ana.20586","volume":"58","author":"B Giusti","year":"2005","unstructured":"Giusti B et al (2005) Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol 58(3):400\u2013410. https:\/\/doi.org\/10.1002\/ana.20586","journal-title":"Ann Neurol"},{"key":"14_CR32","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.actbio.2016.12.023","volume":"52","author":"ARF Godwin","year":"2017","unstructured":"Godwin ARF et al (2017) Defining the hierarchical organisation of collagen VI microfibrils at nanometre to micrometre length scales. Acta Biomater 52:21\u201332. https:\/\/doi.org\/10.1016\/j.actbio.2016.12.023","journal-title":"Acta Biomater"},{"key":"14_CR33","doi-asserted-by":"publisher","unstructured":"Gregorio I et al (2018) Collagen VI in healthy and diseased nervous system. Dis Model Mech 11(6). https:\/\/doi.org\/10.1242\/dmm.032946","DOI":"10.1242\/dmm.032946"},{"issue":"11","key":"14_CR34","doi-asserted-by":"publisher","first-page":"1313","DOI":"10.1038\/nm.2247","volume":"16","author":"P Grumati","year":"2010","unstructured":"Grumati P et al (2010) Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 16(11):1313\u20131320. https:\/\/doi.org\/10.1038\/nm.2247","journal-title":"Nat Med"},{"key":"14_CR35","doi-asserted-by":"publisher","unstructured":"Hanson B, Wood MJA, Roberts TC (2021) Molecular correction of Duchenne muscular dystrophy by splice modulation and gene editing. RNA Biol:1\u201315. https:\/\/doi.org\/10.1080\/15476286.2021.1874161","DOI":"10.1080\/15476286.2021.1874161"},{"issue":"37","key":"14_CR36","doi-asserted-by":"publisher","first-page":"13769","DOI":"10.1074\/jbc.RA119.008641","volume":"294","author":"SE Heum\u00fcller","year":"2019","unstructured":"Heum\u00fcller SE et al (2019) C-terminal proteolysis of the collagen VI \u03b13 chain by BMP-1 and proprotein convertase(s) releases endotrophin in fragments of different sizes. J Biol Chem 294(37):13769\u201313780. https:\/\/doi.org\/10.1074\/jbc.RA119.008641","journal-title":"J Biol Chem"},{"issue":"2","key":"14_CR37","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1002\/ana.1120","volume":"50","author":"I Higuchi","year":"2001","unstructured":"Higuchi I et al (2001) Frameshift mutation in the collagen VI gene causes Ullrich\u2019s disease. Ann Neurol 50(2):261\u2013265. https:\/\/doi.org\/10.1002\/ana.1120","journal-title":"Ann Neurol"},{"issue":"4","key":"14_CR38","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1038\/ng1270","volume":"35","author":"WA Irwin","year":"2003","unstructured":"Irwin WA et al (2003) Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet 35(4):367\u2013371. https:\/\/doi.org\/10.1038\/ng1270","journal-title":"Nat Genet"},{"issue":"5","key":"14_CR39","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1172\/JCI23424","volume":"115","author":"P Iyengar","year":"2005","unstructured":"Iyengar P et al (2005) Adipocyte-derived collagen VI affects early mammary tumor progression in vivo, demonstrating a critical interaction in the tumor\/stroma microenvironment. J Clin Invest 115(5):1163\u20131176. https:\/\/doi.org\/10.1172\/JCI23424","journal-title":"J Clin Invest"},{"key":"14_CR40","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1007\/s00441-015-2345-y","volume":"364","author":"Y Izu","year":"2016","unstructured":"Izu Y et al (2016) Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis. Cell Tissue Res 364:623\u2013635. https:\/\/doi.org\/10.1007\/s00441-015-2345-y","journal-title":"Cell Tissue Res"},{"issue":"7809","key":"14_CR41","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434\u2013443. https:\/\/doi.org\/10.1038\/s41586-020-2308-7","journal-title":"Nature"},{"issue":"6","key":"14_CR42","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1093\/hmg\/7.6.981","volume":"7","author":"SR Lamand\u00e9","year":"1998","unstructured":"Lamand\u00e9 SR 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(6):981\u2013989. https:\/\/doi.org\/10.1093\/hmg\/7.6.981","journal-title":"Hum Mol Genet"},{"issue":"31","key":"14_CR43","doi-asserted-by":"publisher","first-page":"21817","DOI":"10.1074\/jbc.274.31.21817","volume":"274","author":"SR Lamand\u00e9","year":"1999","unstructured":"Lamand\u00e9 SR et al (1999) Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. J Biol Chem 274(31):21817\u201321822. https:\/\/doi.org\/10.1074\/jbc.274.31.21817","journal-title":"J Biol Chem"},{"issue":"3","key":"14_CR44","doi-asserted-by":"publisher","first-page":"1949","DOI":"10.1074\/jbc.M109932200","volume":"277","author":"SR Lamand\u00e9","year":"2002","unstructured":"Lamand\u00e9 SR et al (2002) Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. J Biol Chem 277(3):1949\u20131956. https:\/\/doi.org\/10.1074\/jbc.M109932200","journal-title":"J Biol Chem"},{"issue":"24","key":"14_CR45","doi-asserted-by":"publisher","first-page":"16607","DOI":"10.1074\/jbc.M510192200","volume":"281","author":"SR Lamand\u00e9","year":"2006","unstructured":"Lamand\u00e9 SR et al (2006) The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells. J Biol Chem 281(24):16607\u201316614. https:\/\/doi.org\/10.1074\/jbc.M510192200","journal-title":"J Biol Chem"},{"key":"14_CR46","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1016\/j.matbio.2017.12.008","volume":"71\u201372","author":"SR Lamand\u00e9","year":"2018","unstructured":"Lamand\u00e9 SR, Bateman JF (2018) Collagen VI disorders: insights on form and function in the extracellular matrix and beyond. Matrix Biol 71\u201372:348\u2013367. https:\/\/doi.org\/10.1016\/j.matbio.2017.12.008","journal-title":"Matrix Biol"},{"issue":"2","key":"14_CR47","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1136\/jmg.2004.023754","volume":"42","author":"AK Lampe","year":"2005","unstructured":"Lampe AK et al (2005) Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet 42(2):108\u2013120. https:\/\/doi.org\/10.1136\/jmg.2004.023754","journal-title":"J Med Genet"},{"issue":"9","key":"14_CR48","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1136\/jmg.2002.002311","volume":"42","author":"AK Lampe","year":"2005","unstructured":"Lampe AK, Bushby KMD (2005) Collagen VI related muscle disorders. J Med Genet 42(9):673\u2013685. https:\/\/doi.org\/10.1136\/jmg.2002.002311","journal-title":"J Med Genet"},{"key":"14_CR49","doi-asserted-by":"publisher","unstructured":"Li X et al (2020) Critical role of matrix metalloproteinase 14 in adipose tissue remodeling during obesity. Mol Cell Biol 40(8). https:\/\/doi.org\/10.1128\/MCB.00564-19","DOI":"10.1128\/MCB.00564-19"},{"issue":"10","key":"14_CR50","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1038\/nrd4391","volume":"13","author":"F Madeo","year":"2014","unstructured":"Madeo F et al (2014) Caloric restriction mimetics: towards a molecular definition. Nat Rev Drug Discov 13(10):727\u2013740. https:\/\/doi.org\/10.1038\/nrd4391","journal-title":"Nat Rev Drug Discov"},{"key":"14_CR51","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1016\/j.omtn.2017.07.006","volume":"8","author":"E Marrosu","year":"2017","unstructured":"Marrosu E et al (2017) Gapmer antisense oligonucleotides suppress the mutant allele of COL6A3 and restore functional protein in Ullrich muscular dystrophy. Mol Ther Nucleic Acids 8:416\u2013427. https:\/\/doi.org\/10.1016\/j.omtn.2017.07.006","journal-title":"Mol Ther Nucleic Acids"},{"issue":"4","key":"14_CR52","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1002\/(SICI)1097-0177(199608)206:4<447::AID-AJA10>3.0.CO;2-U","volume":"206","author":"D Marvulli","year":"1996","unstructured":"Marvulli D, Volpin D, Bressan GM (1996) Spatial and temporal changes of type VI collagen expression during mouse development. Dev Dynamics 206(4):447\u2013454. https:\/\/doi.org\/10.1002\/(SICI)1097-0177(199608)206:4<447::AID-AJA10>3.0.CO;2-U","journal-title":"Dev Dynamics"},{"issue":"2","key":"14_CR53","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1016\/j.ajpath.2019.10.014","volume":"190","author":"JA Mereness","year":"2020","unstructured":"Mereness JA et al (2020) Collagen VI deficiency results in structural abnormalities in the mouse lung. Am J Pathol 190(2):426\u2013441. https:\/\/doi.org\/10.1016\/j.ajpath.2019.10.014","journal-title":"Am J Pathol"},{"key":"14_CR54","doi-asserted-by":"publisher","first-page":"139194","DOI":"10.1155\/2011\/139194","volume":"2011","author":"L Merlini","year":"2011","unstructured":"Merlini L et al (2011) Cyclosporine a in Ullrich congenital muscular dystrophy: long-term results. Oxidative Med Cell Longev 2011:139194. https:\/\/doi.org\/10.1155\/2011\/139194","journal-title":"Oxidative Med Cell Longev"},{"key":"14_CR55","doi-asserted-by":"publisher","first-page":"580933","DOI":"10.3389\/fcell.2020.580933","volume":"8","author":"S Metti","year":"2020","unstructured":"Metti S et al (2020) The polyphenol Pterostilbene ameliorates the Myopathic phenotype of collagen VI deficient mice via autophagy induction. Frontiers in Cell and Developmental Biology 8:580933. https:\/\/doi.org\/10.3389\/fcell.2020.580933","journal-title":"Frontiers in Cell and Developmental Biology"},{"issue":"4","key":"14_CR56","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1016\/j.cell.2011.10.026","volume":"147","author":"N Mizushima","year":"2011","unstructured":"Mizushima N, Komatsu M (2011) Autophagy: renovation of cells and tissues. Cell 147(4):728\u2013741. https:\/\/doi.org\/10.1016\/j.cell.2011.10.026","journal-title":"Cell"},{"key":"14_CR57","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1016\/j.semcdb.2017.08.053","volume":"75","author":"S Nasif","year":"2018","unstructured":"Nasif S, Contu L, M\u00fchlemann O (2018) Beyond quality control: the role of nonsense-mediated mRNA decay (NMD) in regulating gene expression. Semin Cell Dev Biol 75:78\u201387. https:\/\/doi.org\/10.1016\/j.semcdb.2017.08.053","journal-title":"Semin Cell Dev Biol"},{"issue":"1","key":"14_CR58","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1038\/cr.2013.169","volume":"24","author":"Y Ohsumi","year":"2014","unstructured":"Ohsumi Y (2014) Historical landmarks of autophagy research. Cell Res 24(1):9\u201323. https:\/\/doi.org\/10.1038\/cr.2013.169","journal-title":"Cell Res"},{"issue":"3","key":"14_CR59","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1002\/ana.21439","volume":"64","author":"RA Pace","year":"2008","unstructured":"Pace RA et al (2008) Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Ann Neurol 64(3):294\u2013303. https:\/\/doi.org\/10.1002\/ana.21439","journal-title":"Ann Neurol"},{"issue":"5","key":"14_CR60","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1093\/hmg\/7.5.807","volume":"7","author":"TC Pan","year":"1998","unstructured":"Pan TC et al (1998) Missense mutation in a von Willebrand factor type a domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet 7(5):807\u2013812. https:\/\/doi.org\/10.1093\/hmg\/7.5.807","journal-title":"Hum Mol Genet"},{"issue":"12","key":"14_CR61","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1369\/0022155420937098","volume":"68","author":"A Papadas","year":"2020","unstructured":"Papadas A et al (2020) Versican and Versican-matrikines in Cancer progression, inflammation, and immunity. The Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society 68(12):871\u2013885. https:\/\/doi.org\/10.1369\/0022155420937098","journal-title":"The Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society"},{"issue":"6","key":"14_CR62","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1002\/emmm.201202006","volume":"5","author":"J Park","year":"2013","unstructured":"Park J, Morley TS, Scherer PE (2013) Inhibition of endotrophin, a cleavage product of collagen VI, confers cisplatin sensitivity to tumours. EMBO Mol Med 5(6):935\u2013948. https:\/\/doi.org\/10.1002\/emmm.201202006","journal-title":"EMBO Mol Med"},{"issue":"7","key":"14_CR63","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1016\/j.nmd.2007.03.017","volume":"17","author":"RA Peat","year":"2007","unstructured":"Peat RA et al (2007) Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscular disorders: NMD 17(7):547\u2013557. https:\/\/doi.org\/10.1016\/j.nmd.2007.03.017","journal-title":"Neuromuscular disorders: NMD"},{"issue":"1","key":"14_CR64","doi-asserted-by":"publisher","first-page":"13749","DOI":"10.1038\/s41598-020-70730-7","volume":"10","author":"HT Pham","year":"2020","unstructured":"Pham HT et al (2020) Collagen VI\u03b12 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNF\u03b1 signaling. Sci Rep 10(1):13749. https:\/\/doi.org\/10.1038\/s41598-020-70730-7","journal-title":"Sci Rep"},{"issue":"5","key":"14_CR65","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1096\/fasebj.14.5.761","volume":"14","author":"T Sasaki","year":"2000","unstructured":"Sasaki T et al (2000) A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor a domain N2 of the collagen alpha3(VI) chain interferes with protein folding. FASEB journal: official publication of the Federation of American Societies for Experimental Biology 14(5):761\u2013768. https:\/\/doi.org\/10.1096\/fasebj.14.5.761","journal-title":"FASEB journal: official publication of the Federation of American Societies for Experimental Biology"},{"key":"14_CR66","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.lfs.2018.10.056","volume":"214","author":"K Sivaraman","year":"2018","unstructured":"Sivaraman K, Shanthi C (2018) Matrikines for therapeutic and biomedical applications. Life Sci 214:22\u201333. https:\/\/doi.org\/10.1016\/j.lfs.2018.10.056","journal-title":"Life Sci"},{"issue":"36","key":"14_CR67","doi-asserted-by":"publisher","first-page":"12755","DOI":"10.1074\/jbc.RA120.014865","volume":"295","author":"H Solomon-Degefa","year":"2020","unstructured":"Solomon-Degefa H et al (2020) Structure of a collagen VI \u03b13 chain VWA domain array: adaptability and functional implications of myopathy causing mutations. J Biol Chem 295(36):12755\u201312771. https:\/\/doi.org\/10.1074\/jbc.RA120.014865","journal-title":"J Biol Chem"},{"key":"14_CR68","doi-asserted-by":"publisher","first-page":"3485","DOI":"10.1038\/ncomms4485","volume":"5","author":"K Sun","year":"2014","unstructured":"Sun K et al (2014) Endotrophin triggers adipose tissue fibrosis and metabolic dysfunction. Nat Commun 5:3485. https:\/\/doi.org\/10.1038\/ncomms4485","journal-title":"Nat Commun"},{"issue":"4","key":"14_CR69","first-page":"281","volume":"3","author":"F Tagliavini","year":"2013","unstructured":"Tagliavini F et al (2013) \u2018Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies\u2019, muscles. Ligaments and Tendons Journal 3(4):281\u2013286","journal-title":"Ligaments and Tendons Journal"},{"issue":"6","key":"14_CR70","doi-asserted-by":"publisher","first-page":"1045","DOI":"10.1111\/j.1476-5381.2009.00316.x","volume":"157","author":"T Tiepolo","year":"2009","unstructured":"Tiepolo T et al (2009) The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1\u2212\/\u2212 myopathic mice. Br J Pharmacol 157(6):1045\u20131052. https:\/\/doi.org\/10.1111\/j.1476-5381.2009.00316.x","journal-title":"Br J Pharmacol"},{"key":"14_CR71","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/B978-0-12-775170-2.50012-3","volume-title":"Extracellular matrix assembly and structure","author":"R Timpl","year":"1994","unstructured":"Timpl R, Chu M-L (1994) Microfibrillar collagen type VI. In: Yurchenco PD, Birk DE, Mecham RP (eds) Extracellular matrix assembly and structure. Academic Press (Biology of Extracellular Matrix), San Diego, pp 207\u2013242. https:\/\/doi.org\/10.1016\/B978-0-12-775170-2.50012-3"},{"key":"14_CR72","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/B978-0-12-481280-2.50008-8","volume-title":"Structure and function of collagen types","author":"R Timpl","year":"1987","unstructured":"Timpl R, Engel J (1987) Type VI Collagen. In: Mayne R, Burgeson RE (eds) Structure and function of collagen types. Academic, Orlando, pp 105\u2013143. https:\/\/doi.org\/10.1016\/B978-0-12-481280-2.50008-8"},{"key":"14_CR73","doi-asserted-by":"publisher","first-page":"5779","DOI":"10.2147\/OTT.S256654","volume":"13","author":"J Wang","year":"2020","unstructured":"Wang J, Pan W (2020) The biological role of the collagen Alpha-3 (VI) chain and its cleaved C5 domain fragment Endotrophin in Cancer. Onco Targets Ther 13:5779\u20135793. https:\/\/doi.org\/10.2147\/OTT.S256654","journal-title":"Onco Targets Ther"},{"issue":"10","key":"14_CR74","doi-asserted-by":"publisher","first-page":"3369","DOI":"10.1091\/mbc.e02-05-0259","volume":"13","author":"CA Whittaker","year":"2002","unstructured":"Whittaker CA, Hynes RO (2002) Distribution and evolution of von Willebrand\/integrin a domains: widely dispersed domains with roles in cell adhesion and elsewhere. Mol Biol Cell 13(10):3369\u20133387. https:\/\/doi.org\/10.1091\/mbc.e02-05-0259","journal-title":"Mol Biol Cell"},{"issue":"7","key":"14_CR75","doi-asserted-by":"publisher","first-page":"4272","DOI":"10.1074\/jbc.M114.632208","volume":"290","author":"LK Zamurs","year":"2015","unstructured":"Zamurs LK et al (2015) Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI \u03b12(VI) chain. J Biol Chem 290(7):4272\u20134281. https:\/\/doi.org\/10.1074\/jbc.M114.632208","journal-title":"J Biol Chem"},{"issue":"20","key":"14_CR76","doi-asserted-by":"publisher","first-page":"5353","DOI":"10.1093\/hmg\/ddu254","volume":"23","author":"A Zulian","year":"2014","unstructured":"Zulian A et al (2014) NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models. Hum Mol Genet 23(20):5353\u20135363. https:\/\/doi.org\/10.1093\/hmg\/ddu254","journal-title":"Hum Mol Genet"}],"container-title":["Advances in Experimental Medicine and Biology","Progress in Heritable Soft Connective Tissue Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-030-80614-9_14","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T12:13:41Z","timestamp":1770120821000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-3-030-80614-9_14"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"ISBN":["9783030806132","9783030806149"],"references-count":76,"URL":"https:\/\/doi.org\/10.1007\/978-3-030-80614-9_14","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"value":"0065-2598","type":"print"},{"value":"2214-8019","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]},"assertion":[{"value":"23 November 2021","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}