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Items: 1 to 20 of 360

1.

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
2.

Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.

Zhang RZ, Sabatelli P, Pan TC, Squarzoni S, Mattioli E, Bertini E, Pepe G, Chu ML.

J Biol Chem. 2002 Nov 15;277(46):43557-64.

3.

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
4.

An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells.

Braghetta P, Ferrari A, Fabbro C, Bizzotto D, Volpin D, Bonaldo P, Bressan GM.

Exp Cell Res. 2008 Nov 15;314(19):3508-18. doi: 10.1016/j.yexcr.2008.08.006.

PMID:
18761340
5.

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.

PMID:
15563506
6.

Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.

Kawahara G, Okada M, Morone N, Ibarra CA, Nonaka I, Noguchi S, Hayashi YK, Nishino I.

Neurology. 2007 Sep 4;69(10):1043-9.

PMID:
17785674
7.

[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].

Higuchi I.

Rinsho Shinkeigaku. 2005 Nov;45(11):935-7. Japanese.

PMID:
16447767
8.
9.

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.

Kawahara G, Ogawa M, Okada M, Malicdan MC, Goto Y, Hayashi YK, Noguchi S, Nishino I.

Muscle Nerve. 2008 Sep;38(3):1192-5. doi: 10.1002/mus.21030.

PMID:
18642359
10.

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.

11.

[Collagen VI-related muscle disorders].

Higuchi I.

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

PMID:
22068469
12.

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.

Pepe G, Lucarini L, Zhang RZ, Pan TC, Giusti B, Quijano-Roy S, Gartioux C, Bushby KM, Guicheney P, Chu ML.

Ann Neurol. 2006 Jan;59(1):190-5.

PMID:
16278855
13.

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.

Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM.

Brain. 2009 Jan;132(Pt 1):147-55. doi: 10.1093/brain/awn289.

PMID:
19015158
14.

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype.

Mercuri E, Cini C, Pichiecchio A, Allsop J, Counsell S, Zolkipli Z, Messina S, Kinali M, Brown SC, Jimenez C, Brockington M, Yuva Y, Sewry CA, Muntoni F.

Neuromuscul Disord. 2003 Sep;13(7-8):554-8.

PMID:
12921792
15.

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, Maraldi M, Merlini L, Topaloglu H, Guicheney P.

Neuropediatrics. 2004 Apr;35(2):103-12.

PMID:
15127309
16.

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.

17.

Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen.

Minamitani T, Ariga H, Matsumoto K.

Exp Cell Res. 2004 Jul 1;297(1):49-60.

PMID:
15194424
18.

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.

19.

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
20.

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.

Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D, Flanigan KM, Bonnemann C, Sewry CA, Muntoni F.

Neuromuscul Disord. 2006 Oct;16(9-10):571-82.

PMID:
16935502

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