Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 1986;323(6089):646–50.

Article  CAS  PubMed  Google Scholar 

Burghes AH, Logan C, Hu X, Belfall B, Worton RG, Ray PN. A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature. 1987;328(6129):434–7.

Article  CAS  PubMed  Google Scholar 

Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51(6):919–28.

Article  CAS  PubMed  Google Scholar 

Ervasti JM, Campbell KP. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol. 1993;122(4):809–23.

Article  CAS  PubMed  Google Scholar 

Weller B, Karpati G, Carpenter S. Dystrophin-deficient mdx muscle fibers are preferentially vulnerable to necrosis induced by experimental lengthening contractions. J Neurol Sci. 1990;100(1–2):9–13.

Article  CAS  PubMed  Google Scholar 

Menke A, Jockusch H. Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse. Nature. 1991;349(6304):69–71.

Article  CAS  PubMed  Google Scholar 

Stedman HH, Sweeney HL, Shrager JB, Maguire HC, Panettieri RA, Petrof B, et al. The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy. Nature. 1991;352(6335):536–9.

Article  CAS  PubMed  Google Scholar 

Franco A Jr, Lansman JB. Calcium entry through stretch-inactivated ion channels in mdx myotubes. Nature. 1990;344(6267):670–3.

Article  CAS  PubMed  Google Scholar 

Belanto JJ, Mader TL, Eckhoff MD, Strandjord DM, Banks GB, Gardner MK, et al. Microtubule binding distinguishes dystrophin from utrophin. Proc Natl Acad Sci U S A. 2014;111(15):5723–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lai Y, Thomas GD, Yue Y, Yang HT, Li D, Long C, et al. Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy. J Clin Invest. 2009;119(3):624–35.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Legrand B, Giudice E, Nicolas A, Delalande O, Le Rumeur E. Computational study of the human dystrophin repeats: interaction properties and molecular dynamics. PLoS ONE. 2011;6(8): e23819.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Molza AE, Mangat K, Le Rumeur E, Hubert JF, Menhart N, Delalande O. Structural basis of neuronal nitric-oxide synthase interaction with dystrophin repeats 16 and 17. J Biol Chem. 2015;290(49):29531–41.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Amann KJ, Renley BA, Ervasti JM. A cluster of basic repeats in the dystrophin rod domain binds F-actin through an electrostatic interaction. J Biol Chem. 1998;273(43):28419–23.

Article  CAS  PubMed  Google Scholar 

Rybakova IN, Amann KJ, Ervasti JM. A new model for the interaction of dystrophin with F-actin. J Cell Biol. 1996;135(3):661–72.

Article  CAS  PubMed  Google Scholar 

Le Rumeur E, Fichou Y, Pottier S, Gaboriau F, Rondeau-Mouro C, Vincent M, et al. Interaction of dystrophin rod domain with membrane phospholipids. Evidence of a close proximity between tryptophan residues and lipids. J Biol Chem. 2003;278(8):5993–6001.

Article  CAS  PubMed  Google Scholar 

Prins KW, Humston JL, Mehta A, Tate V, Ralston E, Ervasti JM. Dystrophin is a microtubule-associated protein. J Cell Biol. 2009;186(3):363–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bhosle RC, Michele DE, Campbell KP, Li Z, Robson RM. Interactions of intermediate filament protein synemin with dystrophin and utrophin. Biochem Biophys Res Commun. 2006;346(3):768–77.

Article  CAS  PubMed  Google Scholar 

Chao DS, Gorospe JR, Brenman JE, Rafael JA, Peters MF, Froehner SC, et al. Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy. J Exp Med. 1996;184(2):609–18.

Article  CAS  PubMed  Google Scholar 

Boehler JF, Ricotti V, Gonzalez JP, Soustek-Kramer M, Such L, Brown KJ, et al. Membrane recruitment of nNOSmicro in microdystrophin gene transfer to enhance durability. Neuromuscul Disord. 2019;29(10):735–41.

Article  PubMed  Google Scholar 

Kobayashi YM, Rader EP, Crawford RW, Iyengar NK, Thedens DR, Faulkner JA, et al. Sarcolemma-localized nNOS is required to maintain activity after mild exercise. Nature. 2008;456(7221):511–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nelson MD, Rosenberry R, Barresi R, Tsimerinov EI, Rader F, Tang X, et al. Sodium nitrate alleviates functional muscle ischaemia in patients with Becker muscular dystrophy. J Physiol. 2015;593(23):5183–200.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu GC, Jong YJ, Chiang CH, Jaw TS. Duchenne muscular dystrophy: MR grading system with functional correlation. Radiology. 1993;186(2):475–80.

Article  CAS  PubMed  Google Scholar 

Hathout Y, Marathi RL, Rayavarapu S, Zhang A, Brown KJ, Seol H, et al. Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients. Hum Mol Genet. 2014;23(24):6458–69.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rouillon J, Poupiot J, Zocevic A, Amor F, Leger T, Garcia C, et al. Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies. Hum Mol Genet. 2015;24(17):4916–32.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ohta M, Itagaki Y, Itoh N, Hayashi K, Nishitani H, Ohta K. Carbonic anhydrase III in serum in muscular dystrophy and other neurological disorders: relationship with creatine kinase. Clin Chem. 1991;37(1):36–9.

Article  CAS  PubMed  Google Scholar 

Ayoglu B, Chaouch A, Lochmuller H, Politano L, Bertini E, Spitali P, et al. Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies. EMBO Mol Med. 2014;6(7):918–36.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hathout Y, Brody E, Clemens PR, Cripe L, DeLisle RK, Furlong P, et al. Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2015;112(23):7153–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coenen-Stass AML, Wood MJA, Roberts TC. Biomarker potential of extracellular miRNAs in Duchenne muscular dystrophy. Trends Mol Med. 2017;23(11):989–1001.

Article  CAS  PubMed  Google Scholar 

Cacchiarelli D, Legnini I, Martone J, Cazzella V, D’Amico A, Bertini E, et al. miRNAs as serum biomarkers for Duchenne muscular dystrophy. EMBO Mol Med. 2011;3(5):258–65.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zaharieva IT, Calissano M, Scoto M, Preston M, Cirak S, Feng L, et al. Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS ONE. 2013;8(11):e80263.

Article  PubMed  PubMed Central  Google Scholar 

Lourbakos A, Yau N, de Bruijn P, Hiller M, Kozaczynska K, Jean-Baptiste R, et al. Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne. Sci Rep. 2017;7(1):17888.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nadarajah VD, van Putten M, Chaouch A, Garrood P, Straub V, Lochmuller H, et al. Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul Disord. 2011;21(8):569–78.

Article  CAS  PubMed  Google Scholar 

Hathout Y, Seol H, Han MH, Zhang A, Brown KJ, Hoffman EP. Clinical utility of serum biomarkers in Duchenne muscular dystrophy. Clin Proteomics. 2016;13:9.

Article  PubMed  PubMed Central  Google Scholar 

Ishii MN, Nakashima M, Kamiguchi H, Zach N, Kuboki R, Baba R, et al. Urine titin as a novel biomarker for Duchenne muscular dystrophy. Neuromuscul Disord. 2023;33(4):302–8.

Article  PubMed