Équipe Physiopathologie du Muscle Strié

Responsables : Patrick Vicart (PR P7), Ana Ferreiro (DR INSERM)

Cinq publications récentes

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 2012)

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.

Lilienbaum A. Relationship between the proteasomal system and autophagy. Int J Biochem Mol Biol. 2013 Mar 31 ;4(1):1-26.

Eymard B, Ferreiro A, Ben Yaou R, Stojkovic T. Muscle diseases with prominent joint contractures : Main entities and diagnostic strategy. Rev Neurol (Paris). 2013 Aug-Sep ;169(8-9):546-63.

Coppo, P, Henry-Dessailly I, Rochette, J, Lok, C, Buendia, B, Lassoued K. Clinical significance of autoantibodies to the pericentromeric heterochromatin protein 1a protein. Eur J Intern Med. 2013 Dec ;24(8) : 868-871.

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 Oct ;23(10):1580-9.

Joanne P, Chourbagi O, Hourdé C, Ferry A, Butler-Browne G, Vicart P, Dumonceaux J, Agbulut O.Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. Skelet Muscle. 2013 Feb 20 ;3(1):4.

Leccia E, Batonnet-Pichon S, Tarze A, Bailleux V, Doucet J, Pelloux M, Delort F, Pizon V, Vicart P, Briki F. Cyclic stretch reveals a mechanical role for intermediate filaments in a desminopathic cell model. Phys Biol. 2013 Feb ;10(1):016001.

Schirwis E, Agbulut O, Vadrot N, Mouisel E, Hourdé C, Bonnieu A, Butler-Browne G, Amthor H, Ferry A. The beneficialeffect of myostatindeficiency on maximal muscle force and power isattenuatedwithage. Exp Gerontol. 2013 Feb ;48(2):183-90.

Hourdé C, Joanne P, Medja F, Mougenot N, Jacquet A, Mouisel E, Pannerec A, Hatem S, Butler-Browne G, Agbulut O, Ferry A. A Voluntary physical activity protects from susceptibility to skeletal muscle contraction-induced injury but worsens heart function in mdx mice. Am J Pathol. 2013 May ;182(5):1509-18.

Hourdé C, Joanne P, Noirez P, Agbulut O, Butler-Browne G, Ferry A. Protective effect of female gender-related factors on muscle force-generating capacity and fragility in the dystrophic mdx mouse. Muscle Nerve. 2013 Jul ;48(1):68-75.

Hamdi H, Boitard SE, Planat-Benard V, Pouly J, Neamatalla H, Joanne P, Perier MC, Bellamy V, Casteilla L, Li Z, Hagège AA, Mericskay M, Menasché P, Agbulut O. Efficacy of epicardially delivered adipose stroma cell sheets in dilated cardiomyopathy. Cardiovasc Res. 2013 Sep 1 ;99(4):640-7.

Segard BD, Delort F, Bailleux V, Simon S, Leccia E, Gausseres B, Briki F, Vicart P, Batonnet-Pichon S. N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy. PLoS One. 2013 Oct 1 ;8(10):e76361.

Pizon V, Rybina S, Gerbal F, Delort F, Vicart P, Baldacci G, Karsenti E.MURF2B, a novel LC3-binding protein, participates with MURF2A in the switch between autophagy and ubiquitin proteasome system during differentiation of C2C12 muscle cells. PLoS One. 2013 Oct 4 ;8(10):e76140.

Hadj-Saïd W, Bangratz M, Vignaud A, Chatonnet A, Butler-Browne G, Nicole S, Agbulut O, Ferry A. Effect of locomotor training on muscle performance in the context of nerve-muscle communication dysfunction. Muscle Nerve. 2012 Apr ;45(4):567-77.

Joanne P, Hourdé C, Ochala J, Caudéran Y, Medja F, Vignaud A, Mouisel E, Hadj-Said W, Arandel L, Garcia L, Goyenvalle A, Mounier R, Zibroba D, Sakamoto K, Butler-Browne G, Agbulut O, Ferry A. Impaired adaptive response to mechanical overloading in dystrophic skeletal muscle. PLoS One. 2012 ;7(4):e35346.

Wahbi K, Béhin A, Charron P, Dunand M, Richard P, Meune C, Vicart P, Laforêt P, Stojkovic T, Bécane HM, Kuntzer T, Duboc D. High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations : a 10-year longitudinal study. Neuromuscul Disord. 2012 Mar ;22(3):211-8.

Julie LC, Sabrina BP, Marie-Pierre L, Leibovitch SA. Identification of essential sequences for cellular localization in the muscle-specific ubiquitin E3 ligase MAFbx/Atrogin 1. FEBS Lett. 2012 Feb 17;586(4):362-7.