Kas Distrofilerinin Moleküler Biyolojisi
Özet
Referanslar
Cherin P. Distrophinopathies and related disorders. Curr Opin Rheumatol. 1995;475–86.
Zambon AA, Muntoni F. Congenital muscular dystrophies: What is new? Neuromuscul Disord [Internet]. 2021;31(10):931–42. Available from: https://doi.org/10.1016/j.nmd.2021.07.009
Davies KE, Nowak KJ. Molecular mechanisms of muscular dystrophies: Old and new players. Nat Rev Mol Cell Biol. 2006;7(10):762–73.
Lamperti C, Moggio M. Muscular Dystrophies: Histology, Immunohistochemistry, Molecular Genetics and Management. Curr Pharm Des. 2010;16(8):978–87.
Udd B. Molecular biology of distal muscular dystrophies-Sarcomeric proteins on top. Biochim Biophys Acta - Mol Basis Dis. 2007;1772(2):145–58.
Emery AE. The muscular dystrophies. Lancet. 2002;359:687–95.
Felice KJ. Distal Myopathies. Neurol Clin. 2020;38(3):637–59.
Muchir AWHJ. Emery–Dreifuss muscular dystrophy: focal point nuclear envelope. Curr Opin Neurol. 2019;32(5):728–34.
Arnaiz O, Cohen J, Tassin A-M, Koll F. Remodeling Cildb, a popular database for cilia and links for ciliopathies. Cilia. 2014;3(1):9.
Shieh PB. Muscular Dystrophies and Other Genetic Myopathies. Neurol Clin NA [Internet]. 2013;31(4):1009–29. Available from: http://dx.doi.org/10.1016/j.ncl.2013.04.004
Mercuri E, Bönnemann CG, Muntoni F. Seminar Muscular dystrophies. Lancet [Internet]. 2019;394(10213):2025–38. Available from: http://dx.doi.org/10.1016/S0140-6736(19)32910-1
Nishino I, Ozawa E. Muscular dystrophies. Curr Opin Neurol. 2002;15(5):539–44.
Flanigan KM. The muscular dystrophies. Semin Neurol. 2012;32:255–63.
Galbiati F, Razani B, Michael P. Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med. 2001;7(10):435–41.
Puckelwartz M, McNally E m. Emery-Dreifuss muscular dystrophy [Internet]. 1st ed. Vol. 101, Handbook of Clinical Neurology. Elsevier B.V.; 2011. 155–166 p. Available from: http://dx.doi.org/10.1016/B978-0-08-045031-5.00012-8
Kramarenko D, Walsh R. Emery–Dreifuss muscular dystrophy: a closer look at cardiac complications. Eur Heart J. 2023;44(48):5074–6.
Heller SA, Shih R, Kalra R, Kang PB. Emery-Dreifuss muscular dystrophy. Muscle and Nerve. 2020;61(4):436–48.
Hu P, Yuan L, Deng H. Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies. Mutat Res - Rev Mutat Res. 2018;778(March):45–50.
Mbakam CH, Lamothe G, Tremblay G, Tremblay JP. CRISPR ‑ Cas9 Gene Therapy for Duchenne Muscular Dystrophy. Neurotherapeutics. 2022;931–41.
Barton-davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest. 1999;104(4):375–81.
Hirawat S, Welch EM, Elfring GL, Leonard EM, Almstead NG, Ju W, et al. Safety , Tolerability , and Pharmacokinetics of PTC124 , a Nonaminoglycoside Nonsense Mutation Suppressor , Following Single- and Multiple-Dose Administration to Healthy Male and Female Adult Volunteers. J Clin Pharmacol. 2007;47:430–44.
Chang M, Cai Y, Gao Z, Chen X, Liu B, Zhang C, et al. Duchenne muscular dystrophy : pathogenesis and promising therapies. J Neurol. 2023;270(8):3733–49.
Sun C, Serra C, Lee G, Wagner K. Stem cell-based therapies for Duchenne muscular dystrophy. Exp Neurol. 2021;323(Dmd):1–28.
Referanslar
Cherin P. Distrophinopathies and related disorders. Curr Opin Rheumatol. 1995;475–86.
Zambon AA, Muntoni F. Congenital muscular dystrophies: What is new? Neuromuscul Disord [Internet]. 2021;31(10):931–42. Available from: https://doi.org/10.1016/j.nmd.2021.07.009
Davies KE, Nowak KJ. Molecular mechanisms of muscular dystrophies: Old and new players. Nat Rev Mol Cell Biol. 2006;7(10):762–73.
Lamperti C, Moggio M. Muscular Dystrophies: Histology, Immunohistochemistry, Molecular Genetics and Management. Curr Pharm Des. 2010;16(8):978–87.
Udd B. Molecular biology of distal muscular dystrophies-Sarcomeric proteins on top. Biochim Biophys Acta - Mol Basis Dis. 2007;1772(2):145–58.
Emery AE. The muscular dystrophies. Lancet. 2002;359:687–95.
Felice KJ. Distal Myopathies. Neurol Clin. 2020;38(3):637–59.
Muchir AWHJ. Emery–Dreifuss muscular dystrophy: focal point nuclear envelope. Curr Opin Neurol. 2019;32(5):728–34.
Arnaiz O, Cohen J, Tassin A-M, Koll F. Remodeling Cildb, a popular database for cilia and links for ciliopathies. Cilia. 2014;3(1):9.
Shieh PB. Muscular Dystrophies and Other Genetic Myopathies. Neurol Clin NA [Internet]. 2013;31(4):1009–29. Available from: http://dx.doi.org/10.1016/j.ncl.2013.04.004
Mercuri E, Bönnemann CG, Muntoni F. Seminar Muscular dystrophies. Lancet [Internet]. 2019;394(10213):2025–38. Available from: http://dx.doi.org/10.1016/S0140-6736(19)32910-1
Nishino I, Ozawa E. Muscular dystrophies. Curr Opin Neurol. 2002;15(5):539–44.
Flanigan KM. The muscular dystrophies. Semin Neurol. 2012;32:255–63.
Galbiati F, Razani B, Michael P. Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med. 2001;7(10):435–41.
Puckelwartz M, McNally E m. Emery-Dreifuss muscular dystrophy [Internet]. 1st ed. Vol. 101, Handbook of Clinical Neurology. Elsevier B.V.; 2011. 155–166 p. Available from: http://dx.doi.org/10.1016/B978-0-08-045031-5.00012-8
Kramarenko D, Walsh R. Emery–Dreifuss muscular dystrophy: a closer look at cardiac complications. Eur Heart J. 2023;44(48):5074–6.
Heller SA, Shih R, Kalra R, Kang PB. Emery-Dreifuss muscular dystrophy. Muscle and Nerve. 2020;61(4):436–48.
Hu P, Yuan L, Deng H. Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies. Mutat Res - Rev Mutat Res. 2018;778(March):45–50.
Mbakam CH, Lamothe G, Tremblay G, Tremblay JP. CRISPR ‑ Cas9 Gene Therapy for Duchenne Muscular Dystrophy. Neurotherapeutics. 2022;931–41.
Barton-davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest. 1999;104(4):375–81.
Hirawat S, Welch EM, Elfring GL, Leonard EM, Almstead NG, Ju W, et al. Safety , Tolerability , and Pharmacokinetics of PTC124 , a Nonaminoglycoside Nonsense Mutation Suppressor , Following Single- and Multiple-Dose Administration to Healthy Male and Female Adult Volunteers. J Clin Pharmacol. 2007;47:430–44.
Chang M, Cai Y, Gao Z, Chen X, Liu B, Zhang C, et al. Duchenne muscular dystrophy : pathogenesis and promising therapies. J Neurol. 2023;270(8):3733–49.
Sun C, Serra C, Lee G, Wagner K. Stem cell-based therapies for Duchenne muscular dystrophy. Exp Neurol. 2021;323(Dmd):1–28.
