collagen type vi


Summary: A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers.

Top Publications

  1. Baldock C, Sherratt M, Shuttleworth C, Kielty C. The supramolecular organization of collagen VI microfibrils. J Mol Biol. 2003;330:297-307 pubmed
    ..Together, these data have provided important new insights into the organisation and function of these large macromolecular assemblies. ..
  2. Palma E, Tiepolo T, Angelin A, Sabatelli P, Maraldi N, Basso E, et al. Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. Hum Mol Genet. 2009;18:2024-31 pubmed publisher
  3. Higashi K, Higuchi I, Niiyama T, Uchida Y, Shiraishi T, Hashiguchi A, et al. Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency. Muscle Nerve. 2006;33:120-6 pubmed
    ..Our findings suggest that abnormal expression of proteoglycans and adhesion molecules may be involved in the pathogenesis of the dystrophic muscle changes in Ullrich's disease. ..
  4. Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukawa K, et al. Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine. Am J Hum Genet. 2003;73:812-22 pubmed
    ..Identification of the locus of susceptibility to OPLL by genomewide linkage and linkage disequilibrium studies permits us to investigate the pathogenesis of the disease, which may lead to the development of novel therapeutic tools...
  5. Zanotti S, Negri T, Cappelletti C, Bernasconi P, Canioni E, Di Blasi C, et al. Decorin and biglycan expression is differentially altered in several muscular dystrophies. Brain. 2005;128:2546-55 pubmed
    ..The significantly lowered decorin levels in DMD and MDC1A may be related to the increased TGF-beta1 levels, suggesting a therapeutic role of decorin in these severe dystrophies. ..
  6. Collins J, BONNEMANN C. Congenital muscular dystrophies: toward molecular therapeutic interventions. Curr Neurol Neurosci Rep. 2010;10:83-91 pubmed publisher
    ..In this article, we review our current understanding of the molecular pathogenesis of several CMD types and how these mechanisms may be therapeutically targeted. ..
  7. Mercuri E, Cini C, Counsell S, Allsop J, Zolkipli Z, Jungbluth H, et al. Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol. 2002;6:309-14 pubmed
    ..Further studies in a larger cohort are needed to evaluate the specificity of these findings. ..
  8. Wagener R, Gara S, Kobbe B, Paulsson M, Zaucke F. The knee osteoarthritis susceptibility locus DVWA on chromosome 3p24.3 is the 5' part of the split COL6A4 gene. Matrix Biol. 2009;28:307-10 pubmed publisher
    ..Here we present information that the newly identified DVWA represents the human gene coding for the collagen VI alpha 4 chain, which could point to a more complex disease mechanism. ..
  9. Groulx J, Gagné D, Benoit Y, Martel D, Basora N, Beaulieu J. Collagen VI is a basement membrane component that regulates epithelial cell-fibronectin interactions. Matrix Biol. 2011;30:195-206 pubmed publisher
    ..Taken together, these data demonstrate that collagen VI is an important basal lamina component involved in the regulation of epithelial cell behavior most notably as a regulator of epithelial cell-fibronectin interactions. ..

More Information


  1. Telfer W, Busta A, Bonnemann C, Feldman E, Dowling J. Zebrafish models of collagen VI-related myopathies. Hum Mol Genet. 2010;19:2433-44 pubmed publisher
  2. Higuchi I, Horikiri T, Niiyama T, Suehara M, Shiraishi T, Hu J, et al. Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI deficiency. Neuromuscul Disord. 2003;13:310-6 pubmed
    ..The present findings suggest that abnormal regeneration or maturation processes are involved in the pathogenesis of dystrophic muscle changes at least in the advanced stage of Ullrich's disease. ..
  3. Nakajima I, Muroya S, Tanabe R, Chikuni K. Positive effect of collagen V and VI on triglyceride accumulation during differentiation in cultures of bovine intramuscular adipocytes. Differentiation. 2002;70:84-91 pubmed
    ..However, these findings also indicate that collagen newly synthesized and organized by the adipocyte itself during differentiation is still necessary for the growth of adipose tissue. ..
  4. Lucioli S, Giusti B, Mercuri E, Vanegas O, Lucarini L, Pietroni V, et al. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology. 2005;64:1931-7 pubmed
    Dominant mutations in COL6A1, COL6A2, and COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with Bethlem myopathy (BM) and Ullrich scleroatonic muscular dystrophy...
  5. Petrini S, Tessa A, Stallcup W, Sabatelli P, Pescatori M, Giusti B, et al. Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency. Mol Cell Neurosci. 2005;30:408-17 pubmed
    ..MCSP/NG2 proteoglycan may be considered an important receptor mediating COL6-sarcolemma interactions, a relationship that is disrupted by the pathogenesis of UCMD muscle. ..
  6. Minamitani T, Ariga H, Matsumoto K. Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen. Exp Cell Res. 2004;297:49-60 pubmed
    ..The results suggest the possibility that TNX mediates not only cell-cell and cell-matrix interactions but also fibrillogenesis via collagen fibril-associated molecules. ..
  7. Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, et al. Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. Neuropediatrics. 2004;35:103-12 pubmed
    ..No significant phenotypical differences were found between the families linked to each of the 2 loci, which confirms UCMD as a unique entity with underlying genetic heterogeneity. ..
  8. Mercuri E, Yuva Y, Brown S, Brockington M, Kinali M, Jungbluth H, et al. Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Neurology. 2002;58:1354-9 pubmed
    ..These results suggest that collagen VI involvement is relatively common in UCMD (40%); however, the role of this molecule was excluded in a number of cases, suggesting genetic heterogeneity of this condition. ..
  9. Chevrier A, Nelea M, Hurtig M, Hoemann C, Buschmann M. Meniscus structure in human, sheep, and rabbit for animal models of meniscus repair. J Orthop Res. 2009;27:1197-203 pubmed publisher
  10. Park J, Scherer P. Adipocyte-derived endotrophin promotes malignant tumor progression. J Clin Invest. 2012;122:4243-56 pubmed publisher
    ..Our results highlight the crucial role of ETP as an obesity-associated factor that promotes tumor growth in the context of adipocyte interactions with tumor and stromal cells. ..
  11. Gramann M, Wendler O, Haeberle L, Schick B. Prominent collagen type VI expression in juvenile angiofibromas. Histochem Cell Biol. 2009;131:155-64 pubmed publisher
    The extracellular matrix component collagen type VI demonstrates potent growth-stimulatory effects and has been associated with aggressive tumour growth...
  12. Tiepolo T, Angelin A, Palma E, Sabatelli P, Merlini L, Nicolosi L, et al. The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice. Br J Pharmacol. 2009;157:1045-52 pubmed publisher
    ..They represent an essential step towards an effective therapy for Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy, because Debio 025 does not expose patients to the potentially harmful effects of immunosuppression. ..
  13. Iyengar P, Espina V, Williams T, Lin Y, Berry D, Jelicks L, et al. Adipocyte-derived collagen VI affects early mammary tumor progression in vivo, demonstrating a critical interaction in the tumor/stroma microenvironment. J Clin Invest. 2005;115:1163-76 pubmed
    ..Therefore, adipocytes play a vital role in defining the ECM environment for normal and tumor-derived ductal epithelial cells and contribute significantly to tumor growth at early stages through secretion and processing of collagen VI. ..
  14. Varma R, Hector S, Clark K, Greco W, Hawthorn L, Pendyala L. Gene expression profiling of a clonal isolate of oxaliplatin-resistant ovarian carcinoma cell line A2780/C10. Oncol Rep. 2005;14:925-32 pubmed
    ..The identification of these genes should aid in a better understanding of the pathways resulting in platinum drug resistance. ..
  15. Scacheri P, Gillanders E, Subramony S, Vedanarayanan V, Crowe C, Thakore N, et al. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology. 2002;58:593-602 pubmed
    ..The authors hypothesize that collagen VI mutations lead to muscle-specific defects of the basal lamina, and may explain the muscle-specific symptoms of Bethlem and limb-girdle muscular dystrophy patients with collagen VI mutations. ..
  16. Izu Y, Ezura Y, Mizoguchi F, Kawamata A, Nakamoto T, Nakashima K, et al. Type VI collagen deficiency induces osteopenia with distortion of osteoblastic cell morphology. Tissue Cell. 2012;44:1-6 pubmed publisher
    ..Furthermore, type VI collagen deficiency disorganized collagen arrangement. These data indicate that type VI collagen contributes to maintain bone mass. ..
  17. Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, et al. Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. Oxid Med Cell Longev. 2011;2011:139194 pubmed publisher
    ..These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised...
  18. Grumati P, Coletto L, Sandri M, Bonaldo P. Autophagy induction rescues muscular dystrophy. Autophagy. 2011;7:426-8 pubmed publisher
    ..Reactivation of the autophagic flux by either nutritional approaches or by pharmacological and genetics tools removes dysfunctional organelles and greatly ameliorates the dystrophic phenotype...
  19. Fitzgerald J, Rich C, Zhou F, Hansen U. Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI). J Biol Chem. 2008;283:20170-80 pubmed publisher
    ..In summary, the discovery of three additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular matrix. ..
  20. Hicks D, Lampe A, Barresi R, Charlton R, Fiorillo C, Bonnemann C, et al. A refined diagnostic algorithm for Bethlem myopathy. Neurology. 2008;70:1192-9 pubmed publisher
    ..It can be used to guide molecular genetic testing, the gold standard diagnostic technique for BM, in a cost-effective and time-saving manner. ..
  21. Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, et al. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet. 2002;70:1446-58 pubmed
    ..Mutations in COL6A3 are described in UCMD for the first time and illustrate the wide spectrum of phenotypes which can be caused by collagen VI deficiency. ..
  22. Sherman Baust C, Weeraratna A, Rangel L, Pizer E, Cho K, Schwartz D, et al. Remodeling of the extracellular matrix through overexpression of collagen VI contributes to cisplatin resistance in ovarian cancer cells. Cancer Cell. 2003;3:377-86 pubmed
    ..These results suggest that tumor cells may directly remodel their microenvironment to increase their survival in the presence of chemotherapeutic drugs. ..
  23. Alexopoulos L, Youn I, Bonaldo P, Guilak F. Developmental and osteoarthritic changes in Col6a1-knockout mice: biomechanics of type VI collagen in the cartilage pericellular matrix. Arthritis Rheum. 2009;60:771-9 pubmed publisher
  24. Canato M, Dal Maschio M, Sbrana F, Raiteri R, Reggiani C, Vassanelli S, et al. Mechanical and electrophysiological properties of the sarcolemma of muscle fibers in two murine models of muscle dystrophy: col6a1-/- and mdx. J Biomed Biotechnol. 2010;2010:981945 pubmed publisher
  25. Nakajima I, Muroya S, Tanabe R, Chikuni K. Extracellular matrix development during differentiation into adipocytes with a unique increase in type V and VI collagen. Biol Cell. 2002;94:197-203 pubmed
    ..These specific increases and development of matrix during adipocyte differentiation imply some significance for organizing fat lobules in each ECM proteins, especially type V and VI collagens. ..
  26. Miyamoto Y, Shi D, Nakajima M, Ozaki K, Sudo A, Kotani A, et al. Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis. Nat Genet. 2008;40:994-8 pubmed publisher
    ..The Tyr169-Cys260 isoform of DVWA, which is overrepresented in knee osteoarthritis, showed weaker interaction. Our findings reveal a new paradigm for study of osteoarthritis etiology and pathogenesis. ..
  27. Lampe A, Zou Y, Sudano D, O Brien K, Hicks D, Laval S, et al. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat. 2008;29:809-22 pubmed publisher
  28. Merlini L, Angelin A, Tiepolo T, Braghetta P, Sabatelli P, Zamparelli A, et al. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A. 2008;105:5225-9 pubmed publisher
  29. Hicks D, Lampe A, Laval S, Allamand V, Jimenez Mallebrera C, Walter M, et al. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain. 2009;132:147-55 pubmed publisher
    ..Further work is needed on the relationship of PTP dysregulation with UCMD pathology. ..
  30. Ishikawa H, Sugie K, Murayama K, Ito M, Minami N, Nishino I, et al. Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness. Neurology. 2002;59:920-3 pubmed
    ..Absence of microfibrils on EM, together with normal collagen fibrils and basal lamina, suggests that loss of a link between interstitium and basal lamina may be a new molecular pathomechanism of muscular dystrophy. ..
  31. Foley A, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn D, et al. Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord. 2009;19:813-7 pubmed publisher
    ..Thus, autosomal recessive inheritance can also underlie Bethlem myopathy, supporting the notion that Ullrich CMD and Bethlem myopathy are part of a common clinical and genetic spectrum. ..
  32. Niiyama T, Higuchi I, Suehara M, Hashiguchi T, Shiraishi T, Nakagawa M, et al. Electron microscopic abnormalities of skeletal muscle in patients with collagen VI deficiency in Ullrich's disease. Acta Neuropathol. 2002;104:67-71 pubmed
  33. Murray D, Bush P, Brenkel I, Hall A. Abnormal human chondrocyte morphology is related to increased levels of cell-associated IL-1? and disruption to pericellular collagen type VI. J Orthop Res. 2010;28:1507-14 pubmed publisher
    ..We studied IL-1? and pericellular collagen type VI in morphologically normal and abnormal chondrocytes...
  34. Tsukahara S, Miyazawa N, Akagawa H, Forejtova S, Pavelka K, Tanaka T, et al. COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. Spine (Phila Pa 1976). 2005;30:2321-4 pubmed
    ..Genetic screening of collagen 6A1 gene (COL6A1) in patients with diffuse idiopathic skeletal hyperostosis (DISH) recruited in Japan and the Czech Republic...
  35. Wiberg C, Klatt A, Wagener R, Paulsson M, Bateman J, Heinegard D, et al. Complexes of matrilin-1 and biglycan or decorin connect collagen VI microfibrils to both collagen II and aggrecan. J Biol Chem. 2003;278:37698-704 pubmed
    ..Colocalization of collagen VI and the different ligands in the pericellular matrix of cultured chondrosarcoma cells supported the physiological relevance of the observed interactions in matrix assembly. ..
  36. Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, et al. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol. 2005;58:400-10 pubmed
  37. Squarzoni S, Sabatelli P, Bergamin N, Guicheney P, Demir E, Merlini L, et al. Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains. J Cell Physiol. 2006;206:160-6 pubmed
    ..These results suggest that different alpha3(VI) chain isoforms, containing also domains of the N10-N7 region, are required for assembling a proper collagen VI network in the extracellular matrix. ..
  38. Irwin W, Bergamin N, Sabatelli P, Reggiani C, Megighian A, Merlini L, et al. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet. 2003;35:367-71 pubmed
    ..These findings indicate that collagen VI myopathies have an unexpected mitochondrial pathogenesis that could be exploited for therapeutic intervention. ..
  39. Nadeau A, Kinali M, Main M, Jimenez Mallebrera C, Aloysius A, Clement E, et al. Natural history of Ullrich congenital muscular dystrophy. Neurology. 2009;73:25-31 pubmed publisher
    ..This information should be of help to better anticipate the difficulties encountered by patients with UCMD and in planning future therapeutic trials in this condition. ..
  40. Dziadek M, Kazenwadel J, Hendrey J, Pan T, Zhang R, Chu M. Alternative splicing of transcripts for the alpha 3 chain of mouse collagen VI: identification of an abundant isoform lacking domains N7-N10 in mouse and human. Matrix Biol. 2002;21:227-41 pubmed
    ..These studies demonstrate a larger range of collagen VI protein variants than previously described. ..
  41. Khan T, Muise E, Iyengar P, Wang Z, Chandalia M, Abate N, et al. Metabolic dysregulation and adipose tissue fibrosis: role of collagen VI. Mol Cell Biol. 2009;29:1575-91 pubmed publisher
  42. Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, et al. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology. 2008;71:1245-53 pubmed publisher
    ..Our study demonstrates that myosclerosis myopathy should be considered a collagen VI disorder allelic to Ullrich congenital muscular dystrophy and Bethlem myopathy. ..
  43. Aigner T, Hambach L, Soder S, Schlötzer Schrehardt U, Poschl E. The C5 domain of Col6A3 is cleaved off from the Col6 fibrils immediately after secretion. Biochem Biophys Res Commun. 2002;290:743-8 pubmed
  44. Pepe G, Lucarini L, Zhang R, Pan T, Giusti B, Quijano Roy S, et al. COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. Ann Neurol. 2006;59:190-5 pubmed
    ..Our studies identify a deletion-prone region in COL6A1 and suggest that similar mutations can lead to congenital muscle disorders of different clinical severity. ..
  45. Kong Q, Ma X, Li F, Guo Z, Qi Q, Li W, et al. COL6A1 polymorphisms associated with ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament. Spine (Phila Pa 1976). 2007;32:2834-8 pubmed publisher
    ..A case-control association study was conducted to investigate the genetic etiology for ossification of the ligamentum flavum (OLF) and ossification of the posterior longitudinal ligament of the spine (OPLL)...
  46. Söderhäll C, Marenholz I, Kerscher T, Ruschendorf F, Esparza Gordillo J, Worm M, et al. Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis. PLoS Biol. 2007;5:e242 pubmed
    ..Lack of COL29A1 expression in the outer epidermis of AD patients points to a role of collagen XXIX in epidermal integrity and function, the breakdown of which is a clinical hallmark of AD. ..
  47. Lampe A, Dunn D, von Niederhausern A, Hamil C, Aoyagi A, Laval S, et al. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet. 2005;42:108-20 pubmed
    ..The large number of single nucleotide polymorphisms which we generated in the course of this work may be of importance in determining the major phenotypic variability seen in this group of disorders. ..
  48. Kawahara G, Ogawa M, Okada M, Malicdan M, Goto Y, Hayashi Y, et al. Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes. Muscle Nerve. 2008;38:1192-5 pubmed publisher
    ..This indicates that heterozygous mutations in COL6 genes diminish the anchorage of collagen VI microfibrils to the extracellular matrix surrounding myocytes. This is the cause for sarcolemma-specific collagen VI deficiency. ..
  49. Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, et al. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A. 2007;104:991-6 pubmed
    ..This study represents an essential step toward a pharmacological therapy of Ullrich congenital muscular dystrophy with cyclosporin A and methylAla(3)ethylVal(4) cyclosporin. ..
  50. Petrini S, D Amico A, Sale P, Lucarini L, Sabatelli P, Tessa A, et al. Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. Neuromuscul Disord. 2007;17:587-96 pubmed
    ..We describe how confocal microscopy and rotary-shadowing electron microscopy may be useful to identify a secondary ColVI defect. ..
  51. Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, et al. Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. Hum Mutat. 2009;30:E662-72 pubmed publisher
    ..These findings suggest a different transcriptional efficiency of a regulatory splicing mutation compared to a genomic deletion causing a splicing defect. ..
  52. Guilak F, Alexopoulos L, Upton M, Youn I, Choi J, Cao L, et al. The pericellular matrix as a transducer of biomechanical and biochemical signals in articular cartilage. Ann N Y Acad Sci. 2006;1068:498-512 pubmed
    ..An improved understanding of the structure and function of the PCM may provide new insights into the mechanisms that regulate chondrocyte physiology in health and disease. ..
  53. Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, et al. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Med Genet. 2010;11:44 pubmed publisher
    ..The intronic deletion we identified represents the first example of a pure intronic mutation in COL6A genes. ..
  54. Dinh W, Bansemir L, Füth R, Nickl W, Stasch J, Coll Barroso M, et al. Increased levels of laminin and collagen type VI may reflect early remodelling in patients with acute myocardial infarction. Acta Cardiol. 2009;64:329-34 pubmed
    ..The extracellular matrix (ECM) is highly susceptible to ischaemic injury. Laminin and collagen type VI (CVI) contribute to ECM formation in the infarct zone...
  55. Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology. 2007;69:1035-42 pubmed
    ..Dominant mutations located in the N-terminal side from the cysteine residue in the THD of COL6A1, COL6A2, and COL6A3 are closely associated with SSCD. ..
  56. Zou Y, Zhang R, Sabatelli P, Chu M, BONNEMANN C. 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. 2008;67:144-54 pubmed publisher
  57. Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, et al. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord. 2002;12:984-93 pubmed
  58. Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Bertaggia E, et al. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med. 2010;16:1313-20 pubmed publisher
    ..These findings indicate that defective activation of the autophagic machinery is pathogenic in some congenital muscular dystrophies...
  59. Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, et al. Autosomal recessive Bethlem myopathy. Neurology. 2009;73:1883-91 pubmed publisher
    ..This finding has relevant implications for genetic counseling and molecular characterization of patients with Bethlem myopathy, as well as for genotype-phenotype correlations in collagen VI disorders. ..
  60. Gara S, Grumati P, Squarzoni S, Sabatelli P, Urciuolo A, Bonaldo P, et al. Differential and restricted expression of novel collagen VI chains in mouse. Matrix Biol. 2011;30:248-57 pubmed publisher
    ..The highly differential and restricted expression points to the possibility of tissue-specific roles of the novel chains in collagen VI assembly and function. ..
  61. Izu Y, Ansorge H, Zhang G, Soslowsky L, Bonaldo P, Chu M, et al. Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice. Matrix Biol. 2011;30:53-61 pubmed publisher
    ..These changes would result in dysfunctional regulation of tendon fibrillogenesis indirectly mediated by collagen VI. ..
  62. Bönnemann C. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011;7:379-90 pubmed publisher
  63. Baker N, Morgelin M, Peat R, Goemans N, North K, Bateman J, et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005;14:279-93 pubmed
    ..Mutation detection in this disorder remains critical for accurate genetic counseling of patients and their families. ..
  64. Lamande S, Morgelin M, Adams N, Selan C, Allen J. 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. 2006;281:16607-14 pubmed
    ..The alpha3(VI) C5 domain is present in the extracellular matrix of SaOS-2 N6-C5 expressing cells and fibroblasts demonstrating that processing of the C-terminal region of the alpha3(VI) chain is not essential for microfibril formation. ..
  65. Pasarica M, Gowronska Kozak B, Burk D, Remedios I, Hymel D, Gimble J, et al. Adipose tissue collagen VI in obesity. J Clin Endocrinol Metab. 2009;94:5155-62 pubmed publisher
    ..95, P < 0.0001). These results are consistent with basic science data, suggesting that COL6A3 might contribute to adipose tissue inflammation. ..
  66. Wiberg C, Heinegard D, Wenglén C, Timpl R, Morgelin M. Biglycan organizes collagen VI into hexagonal-like networks resembling tissue structures. J Biol Chem. 2002;277:49120-6 pubmed
    ..This was demonstrated by electron microscopy after negative staining of gold-labeled biglycan in aggregation experiments with collagen VI. ..
  67. Hanssen E, Reinboth B, Gibson M. Covalent and non-covalent interactions of betaig-h3 with collagen VI. Beta ig-h3 is covalently attached to the amino-terminal region of collagen VI in tissue microfibrils. J Biol Chem. 2003;278:24334-41 pubmed
    ..Overall the study supports the concept that betaig-h3 is extensively associated with collagen VI in some tissues and that it plays an important modulating role in collagen VI microfibril function...
  68. Quarello E, Guimiot F, Moalic J, Simoneau M, Ville Y, Delezoide A. Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21. Prenat Diagn. 2007;27:926-31 pubmed
    ..This study demonstrates a homogeneous overexpression of the genes encoding for alpha1 and alpha2 chains of Collagen type VI, and SOD in nuchal skin of human trisomy 21 fetuses...
  69. Cao L, Guilak F, Setton L. Three-dimensional morphology of the pericellular matrix of intervertebral disc cells in the rat. J Anat. 2007;211:444-52 pubmed
    ..These studies provide new information on the organization and shape of intervertebral disc cells and their surrounding pericellular matrix, which may provide new insights into the mechanisms that regulate cell-matrix interactions. ..
  70. Horikawa O, Nakajima H, Kikuchi T, Ichimura S, Yamada H, Fujikawa K, et al. Distribution of type VI collagen in chondrocyte microenvironment: study of chondrons isolated from human normal and degenerative articular cartilage and cultured chondrocytes. J Orthop Sci. 2004;9:29-36 pubmed
  71. Allen J, Zamurs L, Brachvogel B, Schlötzer Schrehardt U, Hansen U, Lamande S, et al. Mice lacking the extracellular matrix protein WARP develop normally but have compromised peripheral nerve structure and function. J Biol Chem. 2009;284:12020-30 pubmed publisher
    ..Our data demonstrate that although WARP is not essential for basement membrane formation or musculoskeletal development, it has critical roles in the structure and function of peripheral nerves. ..
  72. Bertini E, Pepe G. Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Eur J Paediatr Neurol. 2002;6:193-8 pubmed
  73. Bernardi P, Bonaldo P. Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies. Ann N Y Acad Sci. 2008;1147:303-11 pubmed publisher
  74. Sabatelli P, Gualandi F, Gara S, Grumati P, Zamparelli A, Martoni E, et al. Expression of collagen VI ?5 and ?6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. Matrix Biol. 2012;31:187-96 pubmed publisher
    ..While the ?5 chain may have a specialized function in tissue areas subjected to tensile stress, the ?6 chain appears implicated in ECM remodeling during muscle fibrosis. ..
  75. Paco S, Ferrer I, Jou C, Cusi V, Corbera J, Torner F, et al. Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-?B signaling. J Neuropathol Exp Neurol. 2012;71:894-906 pubmed
    ..Our results indicate that alterations in calpain-3 and nuclear factor-?B signaling pathways may contribute to muscle mass loss in UCMD muscle, whereas atrogin-1 and MURF1 are not likely to play a major role. ..
  76. Ishikawa H, Sugie K, Murayama K, Awaya A, Suzuki Y, Noguchi S, et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology. 2004;62:620-3 pubmed
    ..Only one of the patients had a mutation in the collagen VI gene, suggesting that the primary abnormality in most of the patients involved some other molecules. ..