• Collagen VI (ColVI) is a type of collagen primarily associated with the extracellular matrix of skeletal muscle. ColVI maintains regularity in muscle function...
    19 KB (2,434 words) - 14:06, 9 October 2024
  • Thumbnail for Collagen, type VI, alpha 3
    Collagen alpha-3(VI) chain is a protein that in humans is encoded by the COL6A3 gene. This protein is an alpha chain of type VI collagen that aids in microfibril...
    12 KB (1,608 words) - 04:56, 6 January 2024
  • Thumbnail for Collagen, type VI, alpha 1
    Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene. The collagens are a superfamily of proteins that play a role in...
    8 KB (1,022 words) - 21:11, 21 November 2023
  • Thumbnail for Collagen
    Collagen (/ˈkɒlədʒən/) is the main structural protein in the extracellular matrix of a body's various connective tissues. As the main component of connective...
    69 KB (7,689 words) - 01:02, 14 October 2024
  • Thumbnail for Autophagy
    exercise. Another study demonstrated that skeletal muscle fibers of collagen VI in knockout mice showed signs of degeneration due to an insufficiency...
    77 KB (9,111 words) - 09:15, 16 October 2024
  • Thumbnail for Collagen, type VI, alpha 2
    Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene. This gene encodes one of the three alpha chains of type VI collagen...
    10 KB (1,047 words) - 17:50, 26 January 2024
  • Thumbnail for Bethlem myopathy
    Bethlem myopathy (category Collagen disease)
    which type of collagen is affected. Bethlem myopathy 1 (BTHLM1) is caused by a mutation in one of the three genes coding for type VI collagen. These include...
    23 KB (2,333 words) - 19:52, 23 August 2024
  • Thumbnail for Ullrich congenital muscular dystrophy
    Ullrich congenital muscular dystrophy (category Collagen disease)
    UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen. UCMD is commonly associated with contractures...
    15 KB (1,320 words) - 14:36, 24 August 2024
  • Thumbnail for Collagen, type VI, alpha 5
    Collagen alpha-5(VI) chain also known as von Willebrand factor A domain-containing protein 4 is a protein that in humans is encoded by the COL6A5 gene...
    1 KB (166 words) - 21:14, 21 November 2023
  • Thumbnail for Muscle contracture
    muscular dystrophy, mutations in collagen VI and XII genes result in deficient or dysfunctional microfibrillar collagen in the extracellular matrix of muscle...
    18 KB (2,023 words) - 20:19, 25 July 2024
  • Thumbnail for Platelet glycoprotein VI
    Platelet glycoprotein VI (GPVI) is a glycoprotein receptor for collagen which is expressed in platelets. In humans, glycoprotein VI is encoded by the GP6...
    12 KB (1,419 words) - 11:02, 11 May 2024
  • Thumbnail for Congenital muscular dystrophy
    COL6A3 genes that encode for three of the alpha chains making up Collagen VI. Collagen VI is important in muscle, tendon, and skin tissue, and functions...
    34 KB (3,524 words) - 14:14, 13 August 2024
  • Thumbnail for Chromosome 21
    encoding alpha-1 chain of collagen VI COL6A2: encoding alpha-2 chain of collagen VI COL18A1: encoding alpha-1 chain of collagen XVIII CRYAA: encoding alpha-crystallin...
    33 KB (3,077 words) - 19:12, 6 October 2024
  • Thumbnail for Contracture
    PMID 34848128. S2CID 240123241. Bönnemann, Carsten G. (2011-06-21). "The collagen VI-related myopathies: muscle meets its matrix". Nature Reviews. Neurology...
    10 KB (907 words) - 10:23, 17 August 2024
  • Thumbnail for Pseudohypertrophy
    ISSN 0028-3886. PMID 20739820. Bönnemann, Carsten G. (2011-06-21). "The collagen VI-related myopathies: muscle meets its matrix". Nature Reviews. Neurology...
    10 KB (908 words) - 18:16, 25 October 2023
  • Thumbnail for Ligamenta flava
    ligaments may be linked to a fibrotic process associated with increased collagen VI, which could represent an adaptive and reparative process in response...
    8 KB (901 words) - 17:20, 25 October 2024
  • composed of glomerular matrix proteins such as collagen IV (α1 and α2 chains), collagen V, collagen VI, laminin A, B1, B2, fibronectin, and proteoglycans...
    14 KB (1,601 words) - 02:15, 3 December 2023
  • Thumbnail for Glycosaminoglycan
    hyaluronan binding protein, brain enriched hyaluronan binding protein, collagen VI, TSG-6, and inter-alpha-trypsin inhibitor. Cell surface interactions...
    23 KB (2,639 words) - 09:17, 29 July 2024
  • evidence that suggest tenascin X accelerates collagen fibril formation through an additive mechanism when collagen VI is present. In addition to tenascin X,...
    8 KB (1,054 words) - 08:12, 3 October 2023
  • classes of macromolecules; collagen (type I, II, VI, X collagen fibrils) and proteoglycans. The ratio and the proportion of collagen play an important role...
    4 KB (555 words) - 13:22, 22 July 2023
  • Thumbnail for Limb–girdle muscular dystrophy
    descending order, are those due to mutation of 1) calpain, 2) dysferlin, 3) collagen VI, 4) sarcoglycans, 5) anoctamin 5, and 6) fukutin-related protein. In...
    35 KB (2,770 words) - 01:46, 18 September 2024
  • deficient) congenital muscular dystrophy (Emery–Dreifuss muscular dystrophy) Collagen VI-related muscular dystrophy (Bethlem myopathy, Ullrich congenital muscular...
    9 KB (902 words) - 15:36, 8 September 2024
  • Thumbnail for Perimysium
    thoroughly everywhere within the muscle. Found to have type I, III, VI, and XII collagen. Connective tissue in skeletal muscle Endomysium Epimysium E. Passerieux...
    2 KB (184 words) - 18:24, 9 July 2024
  • preferentially binds collagens IV, VI and type XIII collagen, but also fibril-forming collagens. Specific binding sites in collagen I and IV have been identified...
    8 KB (1,090 words) - 21:55, 30 September 2023
  • "Dysfunction of Mitochondria and Sarcoplasmic Reticulum in the Pathogenesis of Collagen VI Muscular Dystrophies". Annals of the New York Academy of Sciences. 1147...
    32 KB (3,440 words) - 20:29, 23 March 2024
  • Thumbnail for NIM811
    (UCMD) and Bethlem myopathy (BM) disease, diseases altering the genes for collagen VI production. Ma, Sue; Boerner, Joanna E.; TiongYip, ChoiLai; Weidmann...
    3 KB (216 words) - 21:52, 3 October 2024
  • Thumbnail for Tendon
    total mass, is made of: 60–85% collagen 60–80% collagen I 0–10% collagen III 2% collagen IV small amounts of collagens V, VI, and others 15–40% non-collagenous...
    46 KB (5,162 words) - 17:47, 21 September 2024
  • Thumbnail for Tenascin X
    tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies". American Journal of Medical Genetics. Part A. 143A (18):...
    27 KB (2,978 words) - 15:14, 6 July 2024
  • Claudio; Ferlini, Alessandra (2015-09-01). "Paternal germline mosaicism in collagen VI related myopathies". European Journal of Paediatric Neurology. 19 (5):...
    11 KB (1,435 words) - 08:27, 22 August 2024
  • Thumbnail for LAMA2 related congenital muscular dystrophy
    α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases". Journal of Neuromuscular Diseases. 2 (3): 229–240...
    36 KB (3,611 words) - 17:53, 23 August 2024