BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 21543891)

  • 1. Autophagy induction rescues muscular dystrophy.
    Grumati P; Coletto L; Sandri M; Bonaldo P
    Autophagy; 2011 Apr; 7(4):426-8. PubMed ID: 21543891
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 21037586
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 5(5):a011387. PubMed ID: 23580791
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Zebrafish models of collagen VI-related myopathies.
    Telfer WR; Busta AS; Bonnemann CG; Feldman EL; Dowling JJ
    Hum Mol Genet; 2010 Jun; 19(12):2433-44. PubMed ID: 20338942
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Collagen VI-related muscle disorders].
    Higuchi I
    Brain Nerve; 2011 Nov; 63(11):1169-78. PubMed ID: 22068469
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 19015158
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 23(20):5353-63. PubMed ID: 24852368
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 18(11):2024-31. PubMed ID: 19293339
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 14(2):279-93. PubMed ID: 15563506
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 14625552
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 12840783
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Collagen type VI myopathies.
    Bushby KM; Collins J; Hicks D
    Adv Exp Med Biol; 2014; 802():185-99. PubMed ID: 24443028
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 289(15):10293-10307. PubMed ID: 24563484
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 19076452
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 18366090
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 24907562
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.
    Barington M; Dunø M; Birkedal U; Vissing J; Born AP; Krag T; Hansen TVO; Østergaard E
    Neuromuscul Disord; 2023 Jul; 33(7):539-545. PubMed ID: 37315421
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.
    Peat RA; Baker NL; Jones KJ; North KN; Lamandé SR
    Neuromuscul Disord; 2007 Jul; 17(7):547-57. PubMed ID: 17537636
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 13(11):5022-30. PubMed ID: 25211533
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Collagen VI in the Musculoskeletal System.
    Di Martino A; Cescon M; D'Agostino C; Schilardi F; Sabatelli P; Merlini L; Faldini C
    Int J Mol Sci; 2023 Mar; 24(6):. PubMed ID: 36982167
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.