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Therapy of collagen VI-related myopathies (Bethlem and Ullrich).
Merlini L, Bernardi P. Merlini L, et al. Neurotherapeutics. 2008 Oct;5(4):613-8. doi: 10.1016/j.nurt.2008.08.004. Neurotherapeutics. 2008. PMID: 19019314 Free PMC article. Review.
The collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), which show a variable combination of muscle wasting and weakness, joint contractures, distal laxity, and respiratory co …
The collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and Ullrich congenital muscular d …
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.
Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, Michelini ME, Franchella A, Gualandi F, Bertini E, Maraldi NM, Ferlini A, Bonaldo P, Bernardi P. Merlini L, et al. Oxid Med Cell Longev. 2011;2011:139194. doi: 10.1155/2011/139194. Epub 2011 Oct 17. Oxid Med Cell Longev. 2011. PMID: 22028947 Free PMC article. Clinical Trial.
Six individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen VI, aging 5-9, received 3-5 mg/kg of cyclosporine A (CsA) daily for 1 to 3.2 years. ...Results from this study demonstrate that long-term tre …
Six individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen V …
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. Hicks D, et al. Brain. 2009 Jan;132(Pt 1):147-55. doi: 10.1093/brain/awn289. Epub 2008 Nov 16. Brain. 2009. PMID: 19015158
Mutations in COL6A1, COL6A2 and COL6A3, the genes which encode the extra-cellular matrix component collagen VI, lead to Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). Although the Col6a1(-/-) null mouse has an extremely mild neuromu …
Mutations in COL6A1, COL6A2 and COL6A3, the genes which encode the extra-cellular matrix component collagen VI, lead to Bethlem myopathy and …
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.
Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P. Angelin A, et al. Proc Natl Acad Sci U S A. 2007 Jan 16;104(3):991-6. doi: 10.1073/pnas.0610270104. Epub 2007 Jan 10. Proc Natl Acad Sci U S A. 2007. PMID: 17215366 Free PMC article.
Ullrich congenital muscular dystrophy is a severe genetically and clinically heterogeneous muscle disorder linked to collagen VI deficiency. ...Here we demonstrate that mitochondrial dysfunction plays an important role in muscle cell wasting in Ullr …
Ullrich congenital muscular dystrophy is a severe genetically and clinically heterogeneous muscle disorder linke …
Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies.
Bernardi P, Bonaldo P. Bernardi P, et al. Ann N Y Acad Sci. 2008 Dec;1147:303-11. doi: 10.1196/annals.1427.009. Ann N Y Acad Sci. 2008. PMID: 19076452 Review.
Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are muscle diseases due to mutations in the genes encoding the extracellular matrix protein collagen VI. ...These studies suggest that PTP opening may represent the final common pat …
Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are muscle diseases due to mutations in t …
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. Castagnaro S, et al. Autophagy. 2016 Dec;12(12):2484-2495. doi: 10.1080/15548627.2016.1231279. Epub 2016 Sep 22. Autophagy. 2016. PMID: 27656840 Free PMC article. Clinical Trial.
A pilot clinical trial based on nutritional modulation was designed to assess the efficacy of a one-year low-protein diet in activating autophagy in skeletal muscle of patients affected by COL6/collagen VI-related myopathies. Ullrich congenital musc …
A pilot clinical trial based on nutritional modulation was designed to assess the efficacy of a one-year low-protein diet in a …
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. Zulian A, et al. Hum Mol Genet. 2014 Oct 15;23(20):5353-63. doi: 10.1093/hmg/ddu254. Epub 2014 May 22. Hum Mol Genet. 2014. PMID: 24852368
Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are inherited muscle diseases due to mutations in the genes encoding the extracellular matrix protein collagen (Col) VI. ...
Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are inherited muscle diseases due to muta …
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Natera-de Benito D, Foley AR, Domínguez-González C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Expósito-Escudero J, Alarcon M, Cuadras D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou C, Jimenez-Mallebrera C, Bönnemann CG, Nascimento A. Natera-de Benito D, et al. Neurology. 2021 Mar 9;96(10):e1413-e1424. doi: 10.1212/WNL.0000000000011499. Epub 2021 Jan 13. Neurology. 2021. PMID: 33441455 Free PMC article.
The early maximal motor milestones of ability to rise from the floor unassisted and ability to climb 4 steps without holding onto a railing demonstrated reliability in distinguishing between 3 COL6-RD phenotypic subgroups: (1) Ullrich congenital muscular d …
The early maximal motor milestones of ability to rise from the floor unassisted and ability to climb 4 steps without holding onto a railing …
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy.
Zaharieva IT, Calissano M, Scoto M, Preston M, Cirak S, Feng L, Collins J, Kole R, Guglieri M, Straub V, Bushby K, Ferlini A, Morgan JE, Muntoni F. Zaharieva IT, et al. PLoS One. 2013 Nov 25;8(11):e80263. doi: 10.1371/journal.pone.0080263. eCollection 2013. PLoS One. 2013. PMID: 24282529 Free PMC article.
Duchenne muscular Dystrophy (DMD) is an inherited disease caused by mutations in the dystrophin gene that disrupt the open reading frame, while in frame mutations result in Becker muscular dystrophy (BMD). Ullrich congenital muscular dystrophy (UCMD) i …
Duchenne muscular Dystrophy (DMD) is an inherited disease caused by mutations in the dystrophin gene that disrupt the open reading frame, wh …
14 results