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Items: 1 to 20 of 164

1.

COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

Pan TC, Zhang RZ, Markova D, Arita M, Zhang Y, Bogdanovich S, Khurana TS, Bönnemann CG, Birk DE, Chu ML.

J Biol Chem. 2013 May 17;288(20):14320-31. doi: 10.1074/jbc.M112.433078. Epub 2013 Apr 5.

2.

A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.

Pan TC, Zhang RZ, Arita M, Bogdanovich S, Adams SM, Gara SK, Wagener R, Khurana TS, Birk DE, Chu ML.

J Biol Chem. 2014 Apr 11;289(15):10293-307. doi: 10.1074/jbc.M114.549311. Epub 2014 Feb 22.

3.

Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.

Sabatelli P, Gualandi F, Gara SK, Grumati P, Zamparelli A, Martoni E, Pellegrini C, Merlini L, Ferlini A, Bonaldo P, Maraldi NM, Paulsson M, Squarzoni S, Wagener R.

Matrix Biol. 2012 Apr;31(3):187-96. doi: 10.1016/j.matbio.2011.12.003. Epub 2011 Dec 30.

4.

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR.

Hum Mol Genet. 2005 Jan 15;14(2):279-93. Epub 2004 Nov 24.

PMID:
15563506
5.

Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.

Tooley LD, Zamurs LK, Beecher N, Baker NL, Peat RA, Adams NE, Bateman JF, North KN, Baldock C, Lamandé SR.

J Biol Chem. 2010 Oct 22;285(43):33567-76. doi: 10.1074/jbc.M110.152520. Epub 2010 Aug 21.

6.

Collagen type VI myopathies.

Bushby KM, Collins J, Hicks D.

Adv Exp Med Biol. 2014;802:185-99. doi: 10.1007/978-94-007-7893-1_12. Review.

PMID:
24443028
7.

Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

Zamurs LK, Idoate MA, Hanssen E, Gomez-Ibañez A, Pastor P, Lamandé SR.

J Biol Chem. 2015 Feb 13;290(7):4272-81. doi: 10.1074/jbc.M114.632208. Epub 2014 Dec 22.

8.

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.

Am J Hum Genet. 2002 Jun;70(6):1446-58. Epub 2002 Apr 24.

9.

The expanded collagen VI family: new chains and new questions.

Fitzgerald J, Holden P, Hansen U.

Connect Tissue Res. 2013;54(6):345-50. doi: 10.3109/03008207.2013.822865. Epub 2013 Aug 23. Review.

10.

Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.

Zou Y, Zhang RZ, Sabatelli P, Chu ML, Bönnemann CG.

J Neuropathol Exp Neurol. 2008 Feb;67(2):144-54. doi: 10.1097/nen.0b013e3181634ef7.

PMID:
18219255
11.

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.

Lamandé SR, Mörgelin M, Adams NE, Selan C, Allen JM.

J Biol Chem. 2006 Jun 16;281(24):16607-14. Epub 2006 Apr 12.

12.

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.

Tagliavini F, Pellegrini C, Sardone F, Squarzoni S, Paulsson M, Wagener R, Gualandi F, Trabanelli C, Ferlini A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P.

Biochim Biophys Acta. 2014 Sep;1842(9):1604-12. doi: 10.1016/j.bbadis.2014.05.033. Epub 2014 Jun 5.

13.

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.

Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG.

Hum Mutat. 2013 Nov;34(11):1558-67. doi: 10.1002/humu.22429.

14.

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.

Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I.

Neurology. 2007 Sep 4;69(10):1035-42.

PMID:
17785673
15.

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy.

Noguchi S, Ogawa M, Malicdan MC, Nonaka I, Nishino I.

EBioMedicine. 2017 Feb;15:193-202. doi: 10.1016/j.ebiom.2016.12.011. Epub 2016 Dec 23.

16.

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP.

Neurology. 2002 Feb 26;58(4):593-602.

PMID:
11865138
17.

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Pan TC, Zhang RZ, Sudano DG, Marie SK, Bönnemann CG, Chu ML.

Am J Hum Genet. 2003 Aug;73(2):355-69. Epub 2003 Jul 1.

18.

[Collagen VI-related muscle disorders].

Higuchi I.

Brain Nerve. 2011 Nov;63(11):1169-78. Review. Japanese.

PMID:
22068469
19.

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG.

Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704.

PMID:
18366090
20.

The collagen VI-related myopathies: muscle meets its matrix.

Bönnemann CG.

Nat Rev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81. Review.

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