Myologie Fondamentale et Translationnelle

 

Sélection de publications

1) Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot M-C, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy J-P, Marcorelles P, Dubourg O, Ferreiro A. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis and its deficiency causes a novel form of congenital muscle disease. Hum Mol Genet. 2016; 25 (8) : 1559-73. (Abstract)

2) Charrier E, Asnacios A, Milloud R, De Mets R, Balland M, Delort F, Cardoso O, Vicart P, Batonnet-Pichon S, Hénon S. Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts. Biophys J. 2016 Jan 19;110(2):470-80. (Abstract)

3) Vadrot N, Duband-Goulet I, Cabet E, Attanda W, Barateau A, Vicart P, Gerbal F, Briand N, Vigouroux C, Oldenburg AR, Lund EG, Collas P, Buendia B. The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2015;24(7):2096-109. (Abstract)

4) Lund E, Oldenburg AR, Delbarre E, Freberg CT, Duband-Goulet I , Eskeland R, Buendia B, Collas P. Lamin A/C promoter interactions specify chromatin state-dependent transcription outcomes. Genome Res. 2013;23(10):1580-9. (Abstract)

5) Cabet E, Batonnet-Pichon S, Delort F, Gausserès B, Vicart P, Lilienbaum A. Antioxidant Treatment and Induction of Autophagy Cooperate to Reduce Desmin Aggregation in a Cellular Model of Desminopathy. PLoS One. 2015 Sep 2;10(9):e0137009. (Abstract)

Publications indexées dans PubMed (depuis 2014)

Charrier EE, Montel L, Asnacios A, Delort F, Vicart P, Gallet F, Batonnet-Pichon S, Hénon S. The desmin network is a determinant of the cytoplasmic stiffness of myoblasts. Biol Cell. 2018 Apr;110(4):77-90.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O’Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018 Jun;83(6):1105-1124.

Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, Law-Ye B, Zanoteli E, Castiglioni C, Rendu J, Beroud C, Chamouni A, Richard P, Mompoint D, Quijano-Roy S, Carlier RY. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. Eur Radiol. 2018 May 25.

Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B. Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. Eur J Neurol. 2018 May;25(5):790-794.

Ferreiro A, Andoni Urtizberea J. [Titin-related muscle disorders: an expanding spectrum]. Med Sci (Paris). 2017 Nov;33 Hors série n°1:16-26.

Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P, Cutrera R, Ferreiro A, Estournet B, Quijano-Roy S, Fauroux B. Diaphragmatic dysfunction in SEPN1-related myopathy. Neuromuscul Disord. 2017 Aug;27(8):747-755.

Hackman P, Udd B, Bönnemann CG, Ferreiro A; Titinopathy Database Consortium. 219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016. Neuromuscul Disord. 2017 Apr;27(4):396-407.

Ferreiro A. Early-onset myopathies: Entering a new age. Semin Cell Dev Biol. 2017 Apr;64:158-159.

8: Moulin M, Ferreiro A. Muscle redox disturbances and oxidative stress as pathomechanisms and therapeutic targets in early-onset myopathies. Semin Cell Dev Biol. 2017 Apr;64:213-223.

Even C, Abramovici G, Delort F, Rigato AF, Bailleux V, de Sousa Moreira A, Vicart P, Rico F, Batonnet-Pichon S, Briki F. Mutation in the Core Structure of Desmin Intermediate Filaments Affects Myoblast Elasticity. Biophys J. 2017 Aug 8;113(3):627-636.

Barateau A, Vadrot N, Agbulut O, Vicart P, Batonnet-Pichon S, Buendia B. Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient. Cells. 2017 Apr 24;6(2).

Barateau A, Vadrot N, Vicart P, Ferreiro A, Mayer M, Héron D, Vigouroux C, Buendia B. A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus. PLoS One. 2017 Jan 26;12(1):e0169189.

Batonnet-Pichon S, Behin A, Cabet E, Delort F, Vicart P, Lilienbaum A. Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches. J Neuromuscul Dis. 2017;4(1):1-15.

Jagla K, Kalman B, Boudou T, Hénon S, Batonnet-Pichon S. Beyond mice: Emerging and transdisciplinary models for the study of early-onset myopathies. Semin Cell Dev Biol. 2017 Apr;64:171-180.

Gladyshev VN, Arnér ES, Berry MJ, Brigelius-Flohé R, Bruford EA, Burk RF, Carlson BA, Castellano S, Chavatte L, Conrad M, Copeland PR, Diamond AM, Driscoll DM, Ferreiro A, Flohé L, Green FR, Guigó R, Handy DE, Hatfield DL, Hesketh J, Hoffmann PR, Holmgren A, Hondal RJ, Howard MT, Huang K, Kim HY, Kim IY, Köhrle J, Krol A, Kryukov GV, Lee BJ, Lee BC, Lei XG, Liu Q, Lescure A, Lobanov AV, Loscalzo J, Maiorino M, Mariotti M, Sandeep Prabhu K, Rayman MP, Rozovsky S, Salinas G, Schmidt EE, Schomburg L, Schweizer U, Simonović M, Sunde RA, Tsuji PA, Tweedie S, Ursini F, Whanger PD, Zhang Y. Selenoprotein Gene Nomenclature. J Biol Chem. 2016 Nov 11;291(46):24036-24040.

Cavassa E, Tordjman M, Ferreiro A, Carlier R, Quijano-Roy S. [Diagnostic orientation of « Rigid spine » familial case with whole body muscle MRI]. Med Sci (Paris). 2016 Nov;32 Hors série n°2:14-16.

Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. Rev Neurol (Paris). 2016 Oct ;172(10):594-606.

Jagla K, Kalman B, Boudou T, Hénon S, Batonnet-Pichon S. Beyond mice : emerging and transdisciplinary models for the study of early-onset myopathies. Semin Cell Dev Biol. 2016 Sep 23.

Barateau A, Buendia B. In Situ Detection of Interactions Between Nuclear Envelope Proteins and Partners. Methods Mol Biol. 2016;1411:147-58.

Herrada I, Bourgeois B, Samson C, Buendia B, Worman HJ, Zinn-Justin S. Purification and Structural Analysis of LEM-Domain Proteins. Methods Enzymol. 2016;569:43-61.

Duband-Goulet I. Lamin ChIP from Chromatin Prepared by Micrococcal Nuclease Digestion. Methods Mol Biol. 2016;1411:325-39.

Créau N, Cabet E, Daubigney F, Souchet B, Bennaï S, Delabar J. Specific aglated molecular altérations in the cerebellum of Down syndrome mouse models. Brain Research, 2016 : 1646 ; 342-53.

Jungbluth H, Dowling J, Ferreiro A, Muntoni F. 217th ENMC International Workshop : RYR1-related Myopathies, 29-31st January 2016, Naarden, The Netherlands. Neuromuscul Disord 2016 Sep ;26(9):624-33.

Moulin M, Ferreiro A. Muscle redox disturbances and oxidative stress as pathomechanisms and therapeutic targets in early-onset myopathies. Semin Cell Dev Biol. 2016 Aug 12.

Charrier E, Asnacios A, Milloud R, De Mets R, Balland M, Delort F, Cardoso O, Vicart P, Batonnet-Pichon S, Hénon S. Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts. Biophys J. 2016 Jan 19 ;110(2):470-80.

Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot M-C, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy J-P, Marcorelles P, Dubourg O, Ferreiro A. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis and its deficiency causes a novel form of congenital muscle disease. Hum Mol Genet. 2016 April Vol 25(8):1559-73.

Buendia B. LMNA p.R482W mutation related to FPLD2 alters SREBP1 – A-type lamin interactions in human fibroblasts and adipose stem cells. Orphanet J Rare Dis. 2015 ; 10 (suppl 2) :O13.

Lund E, Duband-Goulet I, Oldenburg AR, Buendia B, Collas P. Distinct features of lamin A-interacting chromatin domains mapped by ChIP-sequencing from sonicated or micrococcal nuclease-digested chromatin. Nucleus. 2015 Jan 2 ;6(1):30-9.

Vadrot N, Duband-Goulet I, Cabet E, Attanda W, Barateau A, Vicart P, Gerbal F, Briand N, Vigouroux C, Oldenburg AR, Lund EG, Collas P, Buendia B. The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2015 Apr 1 ;24(7):2096-109.

Cabet E, Batonnet-Pichon S, Delort F, Gausserès B, Vicart P, Lilienbaum A. Antioxidant Treatment and Induction of Autophagy Cooperate to Reduce Desmin Aggregation in a Cellular Model of Desminopathy. PLoS One. 2015 Sep 2 ;10(9):e0137009.

Béhin A, Salort-Campana E, Wahbi K, Richard P, Carlier RY, Carlier P, Laforêt P, Stojkovic T, Maisonobe T, Verschueren A, Franques J, Attarian S, Maues de Paula A, Figarella-Branger D, Bécane HM, Nelson I, Duboc D, Bonne G, Vicart P, Udd B, Romero N, Pouget J, Eymard B. Myofibrillar myopathies : State of the art, present and future challenges. Rev Neurol (Paris). 2015 Oct ;171(10):715-29.

Deconinck N, Richard P, Allamand V, Behin A, Lafôret P, Ferreiro A, de Becdelievre A, Ledeuil C, Gartioux C, Nelson I, Carlier RY, Carlier P, Wahbi K, Romero N, Zabot MT, Bouhour F, Tiffreau V, Lacour A, Eymard B, Stojkovic T. Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. J Neurol Neurosurg Psychiatry. 2015 Dec;86(12):1337-46.

Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S. Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern. Muscle Nerve. 2015 Nov;52(5):728-35.

Herrada I, Samson C, Velours C, Renault L, Östlund C, Chervy P, Puchkov D, Worman HJ, Buendia B, Zinn-Justin S. Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties. ACS Chem Biol. 2015 Dec 18 ;10(12):2733-42.

Chauveau C, Rowell J, Ferreiro A. A rising titan : TTN review and mutation update. Hum Mutat. 2014 ;35(9):1046-59.

North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014 Feb;24(2):97-116.

Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN ; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014 Apr ;24(4):289-311.

Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A, Vihola A, Schafer S, Kaufmann B, Medne L, Hübner N, Foley AR, Santi M, Udd B, Topaloglu H, Moore SA, Gotthardt M, Samuels ME, Gautel M, Ferreiro A. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet. 2014 Feb 15;23(4):980-91.

Xu X, Mathieu C, Boitard SE, Dairou J, Dupret JM, Agbulut O, Rodrigues-Lima F. Skeletal muscle glycogen phosphorylase is irreversibly inhibited by mercury : molecular, cellular and kinetic aspects. FEBS Lett. 2014 Jan 3 ;588(1):138-42.

Samanta S, Bakas I, Yilmaz G, Cabet E, Lilienbaum A, Sun X, Gosecka M, Basinska T, Slomkowski S, Singh A, Aswal DK , Yagci Y, Chehimi MM. Antibacterial Flexible Biaxially Oriented Polyethylene Terephthalate Sheets Through Sequential Diazonium and Hydrophilic Polymer Surface Chemistries. J Colloid Sci Biotechnol. 2014 3, 58-67.

Ferry A, Joanne P, Hadj-Said W, Vignaud A, Lilienbaum A, Hourdé C, Medja F, Noirez P, Charbonnier F, Chatonnet A, Chevessier F, Nicole S, Agbulut O, Butler-Browne G. Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofiber. Neuromuscul Disord. 2014 Nov ;24(11):960-72.