@article {2022|2159,
	title = {Design {\textendash} a new way to look at old molecules},
	journal = {Journal of Integrative Bioinformatics},
	volume = {19},
	year = {2022},
	pages = {20220020},
	doi = {doi:10.1515/jib-2022-0020},
	url = {https://doi.org/10.1515/jib-2022-0020},
	author = {Davide Spalvieri and Anne-Marine Mauviel and Matthieu Lambert and Nicolas F{\'e}rey and S Sacquin-Mora and Matthieu Chavent and Marc Baaden}
}
@article {2018|2093,
	title = {Dystrophin{\textquoteright}s central domain forms a complex filament that becomes disorganized by in-frame deletions.},
	journal = {J Biol Chem},
	volume = {293},
	year = {2018},
	month = {2018 05 04},
	pages = {6637-6646},
	abstract = {<p>Dystrophin, encoded by the gene, is critical for maintaining plasma membrane integrity during muscle contraction events. Mutations in the gene disrupting the reading frame prevent dystrophin production and result in severe Duchenne muscular dystrophy (DMD); in-frame internal deletions allow production of partly functional internally deleted dystrophin and result in less severe Becker muscular dystrophy (BMD). Many known BMD deletions occur in dystrophin\&$\#$39;s central domain, generally considered to be a monotonous rod-shaped domain based on the knowledge of spectrin family proteins. However, the effects caused by these deletions, ranging from asymptomatic to severe BMD, argue against the central domain serving only as a featureless scaffold. We undertook structural studies combining small-angle X-ray scattering and molecular modeling in an effort to uncover the structure of the central domain, as dystrophin has been refractory to characterization. We show that this domain appears to be a tortuous and complex filament that is profoundly disorganized by the most severe BMD deletion (loss of exons 45-47). Despite the preservation of large parts of the binding site for neuronal nitric oxide synthase (nNOS) in this deletion, computational approaches failed to recreate the association of dystrophin with nNOS. This observation is in agreement with a strong decrease of nNOS immunolocalization in muscle biopsies, a parameter related to the severity of BMD phenotypes. The structural description of the whole dystrophin central domain we present here is a first necessary step to improve the design of microdystrophin constructs toward the goal of a successful gene therapy for DMD.</p>
},
	keywords = {Binding Sites, Dystrophin, Exons, Gene Deletion, Humans, Molecular Docking Simulation, Muscular Dystrophy, Duchenne, Nitric Oxide Synthase Type I, Protein Domains, Reading Frames, Scattering, Small Angle, Solutions, X-Ray Diffraction},
	issn = {1083-351X},
	doi = {10.1074/jbc.M117.809798},
	author = {Delalande, Olivier and Molza, Anne-Elisabeth and Dos Santos Morais, Raphael and Ch{\'e}ron, Ang{\'e}lique and Pollet, {\'E}meline and Raguenes-Nicol, C{\'e}line and Tascon, Christophe and Giudice, Emmanuel and Guilbaud, Marine and Nicolas, Aur{\'e}lie and Bondon, Arnaud and Leturcq, France and Nicolas F{\'e}rey and Marc Baaden and Perez, Javier and Roblin, Pierre and Pi{\'e}tri-Rouxel, France and Hubert, Jean-Fran{\c c}ois and Czjzek, Mirjam and Le Rumeur, Elisabeth}
}
@conference {2004|1420,
	title = {A Distributed Multimedia Database Visualization within An Immersive Environment for Bioinformatics},
	booktitle = {International Symposium on Multimedia Software Engineering (ISMSE 2004 - IEEE)},
	year = {2004},
	month = {dec},
	pages = {156{\textendash}159},
	address = {Miami - USA},
	author = {Nicolas F{\'e}rey and P.-E. Gros and J. H{\'e}risson and R. Gherbi}
}
@conference {2004|1425,
	title = {DNA in Virtuo: Visualization and Exploration of 3D Genomic Structures},
	booktitle = {International Conference on Virtual Reality, Computer Graphics, Visualization and Interaction (Afrigraph 2005 - ACM-SIGRAPH sponsored)},
	year = {2004},
	month = {nov},
	address = {Stellenbosch (Cap town), South Africa},
	author = {J. H{\'e}risson and P.-E. Gros and Nicolas F{\'e}rey and O. Magneau and R. Gherbi}
}
@conference {2004|1419,
	title = {DNA in Virtuo: Visualization and Virtual Manipulation of 3D Genomic Structures},
	booktitle = {International CODATA Conference, The Information Society: New Horizons for Science},
	year = {2004},
	month = {nov},
	address = {Berlin, Germany},
	author = {J. H{\'e}risson and P.-E. Gros and Nicolas F{\'e}rey and O. Magneau and R. Gherbi}
}
