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Items: 1 to 20 of 128

1.

Autophagy induction rescues muscular dystrophy.

Grumati P, Coletto L, Sandri M, Bonaldo P.

Autophagy. 2011 Apr;7(4):426-8. doi: 10.4161/auto.7.4.14392.

PMID:
21543891
2.

Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration.

Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Bertaggia E, Blaauw B, Urciuolo A, Tiepolo T, Merlini L, Maraldi NM, Bernardi P, Sandri M, Bonaldo P.

Nat Med. 2010 Nov;16(11):1313-20. doi: 10.1038/nm.2247. Epub 2010 Oct 31.

PMID:
21037586
3.

Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.

Bernardi P, Bonaldo P.

Cold Spring Harb Perspect Biol. 2013 May 1;5(5):a011387. doi: 10.1101/cshperspect.a011387. Review.

4.

Zebrafish models of collagen VI-related myopathies.

Telfer WR, Busta AS, Bonnemann CG, Feldman EL, Dowling JJ.

Hum Mol Genet. 2010 Jun 15;19(12):2433-44. doi: 10.1093/hmg/ddq126. Epub 2010 Mar 25.

5.

[Collagen VI-related muscle disorders].

Higuchi I.

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

PMID:
22068469
6.

NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.

Zulian A, Rizzo E, Schiavone M, Palma E, Tagliavini F, Blaauw B, Merlini L, Maraldi NM, Sabatelli P, Braghetta P, Bonaldo P, Argenton F, Bernardi P.

Hum Mol Genet. 2014 Oct 15;23(20):5353-63. doi: 10.1093/hmg/ddu254. Epub 2014 May 22.

PMID:
24852368
7.

Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice.

Palma E, Tiepolo T, Angelin A, Sabatelli P, Maraldi NM, Basso E, Forte MA, Bernardi P, Bonaldo P.

Hum Mol Genet. 2009 Jun 1;18(11):2024-31. doi: 10.1093/hmg/ddp126. Epub 2009 Mar 17.

PMID:
19293339
8.

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. Epub 2008 Nov 16.

PMID:
19015158
9.

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

Irwin WA, Bergamin N, Sabatelli P, Reggiani C, Megighian A, Merlini L, Braghetta P, Columbaro M, Volpin D, Bressan GM, Bernardi P, Bonaldo P.

Nat Genet. 2003 Dec;35(4):367-71. Epub 2003 Nov 16.

PMID:
14625552
10.

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.

11.

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
12.

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
13.

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.

14.

Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies.

Bernardi P, Bonaldo P.

Ann N Y Acad Sci. 2008 Dec;1147:303-11. doi: 10.1196/annals.1427.009. Review.

PMID:
19076452
15.

Reactivation of autophagy by spermidine ameliorates the myopathic defects of collagen VI-null mice.

Chrisam M, Pirozzi M, Castagnaro S, Blaauw B, Polishchuck R, Cecconi F, Grumati P, Bonaldo P.

Autophagy. 2015;11(12):2142-52. doi: 10.1080/15548627.2015.1108508.

16.

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
17.

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial.

Castagnaro S, Pellegrini C, Pellegrini M, Chrisam M, Sabatelli P, Toni S, Grumati P, Ripamonti C, Pratelli L, Maraldi NM, Cocchi D, Righi V, Faldini C, Sandri M, Bonaldo P, Merlini L.

Autophagy. 2016 Dec;12(12):2484-2495. Epub 2016 Sep 22.

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. Epub 2014 Jun 5.

19.

Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies.

De Palma S, Capitanio D, Vasso M, Braghetta P, Scotton C, Bonaldo P, Lochmüller H, Muntoni F, Ferlini A, Gelfi C.

J Proteome Res. 2014 Nov 7;13(11):5022-30. doi: 10.1021/pr500675e. Epub 2014 Sep 24.

PMID:
25211533
20.

Physical exercise stimulates autophagy in normal skeletal muscles but is detrimental for collagen VI-deficient muscles.

Grumati P, Coletto L, Schiavinato A, Castagnaro S, Bertaggia E, Sandri M, Bonaldo P.

Autophagy. 2011 Dec;7(12):1415-23.

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