Publications by MyoGrad students

* MyoGrad student


Stantzou A*, Ueberschlag-Pitiot V, Thomasson R, Furling D, Bonnieu A, Amthor H, Ferry A.The effect of constitutive inactivation of the myostatin gene on the gain in muscle strength during postnatal growth in two murine models. Muscle Nerve. 2017 Feb;55(2):254-261. doi: 10.1002/mus.25220. Epub 2016 Nov 12.


Ziat E*, Mamchaoui K, Beuvin M, Nelson I, Azibani F, Spuler S, Bonne G, Bertrand AT. FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy. J Neuromuscul Dis. 2016 Nov 29;3(4):497-510. DOI: 10.3233/JND-160169.

Esteves de Lima J*, Bonnin MA, Birchmeier C, Duprez D. Muscle contraction is required to maintain the pool of muscle progenitors via YAP and NOTCH during fetal myogenesis. Elife. 2016 Aug 24;5. pii: e15593.

Bhattarai S*, Ghannam K, Krause S, Benveniste O, Marg A, de Bruin G, Xin BT, Overkleeft HS, Spuler S, Stenzel W, Feist E. The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies. J Autoimmun. 2016 Dec;75:118-129. doi: 10.1016/j.jaut.2016.08.004. Epub 2016 Aug 10.

Petkova MV*, Morales-Gonzales S, Relizani K, Gill E, Seifert F, Radke J, Stenzel W, Garcia L, Amthor H, Schuelke M.Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression. Skelet Muscle. 2016 Jul 5;6:25.

Alonso-Martin S, Rochat A, Mademtzoglou D*, Morais J, de Reyniès A, Auradé F, Chang TH, Zammit PS, Relaix F. Gene Expression Profiling of Muscle Stem Cells Identifies Novel Regulators of Postnatal Myogenesis. Front Cell Dev Biol. 2016 Jun 21;4:58.

Buclez PO, Dias Florencio G*, Relizani K*, Beley C, Garcia L, Benchaouir R. Rapid, scalable, and low-cost purification of recombinant adeno-associated virus produced by baculovirus expression vector system. Mol Ther Methods Clin Dev. 2016 May 11;3:16035. doi: 10.1038/mtm.2016.35. eCollection 2016.

Chatzifrangkeskou M*, Le Dour C, Wu W, Morrow JP, Joseph LC, Beuvin M, Sera F, Homma S, Vignier N, Mougenot N, Bonne G, Lipson KE, Worman HJ, Muchir A. ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene. Hum Mol Genet. 2016 Apr 30. pii: ddw090. [Epub ahead of print]

Davignon L*, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy JP, 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 Apr 15;25(8):1559-73.

Béchir N, Pecchi É, Relizani K*, Vilmen C, Le Fur Y, Bernard M, Amthor H, Bendahan D, Giannesini B. Mitochondrial impairment induced by postnatal ActRIIB blockade does not alter function and energy status in exercising mouse glycolytic muscle in vivo. Am J Physiol Endocrinol Metab. 2016 Apr 1;310(7):E539-49.

Fischer M*, Rikeit P, Knaus P, Coirault C.YAP-Mediated Mechanotransduction in Skeletal Muscle. Front Physiol. 2016 Feb 16;7:41. doi: 10.3389/fphys.2016.00041. eCollection 2016. Review.

Moshourab R, Palada V*, Grunwald S, Grieben U, Lewin G, Spuler S. A Molecular Signature of Myalgia in Myotonic Dystrophy 2, EBioMedicine. 2016;7:205-11.

Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M*, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet. 2016 Mar 3;98(3):473-89.

Escobar H*, Schoewel V, Spuler S, Marg A†, Izsvák Z†. Full-length dysferlin transfer by the hyperactive Sleeping Beauty transposase restores dysferlin-deficient muscle. Mol Ther Nucleic Acids. 2016 Jan 19;5:e277. †contributed equally


Dias Florencio G*, Precigout G, Beley C, Buclez PO, Garcia L, Benchaouir R. Simple downstream process based on detergent treatment improves yield and in vivo transduction efficacy of adeno-associated virus vectors. Mol Ther Methods Clin Dev. 2015 Jul 15;2:15024.

Bourgeois A*, Esteves de Lima J*, Charvet B, Kawakami K, Stricker S, Duprez D. Stable and bicistronic expression of two genes in somite- and lateral plate-derived tissues to study chick limb development. BMC Dev Biol. 2015 Oct 30;15(1):39.

Zalc A*, Relaix F. [Pax3 and Pax7 play essential safeguard functions against environmental stress-induced birth defects]. Med Sci (Paris). 2015 Aug-Sep;31(8-9):723-5.

Du Bois P, Pablo Tortola C*, Lodka D, Kny M, Schmidt F, Song K, Schmidt S, Bassel-Duby R, Olson EN3, Fielitz J. Angiotensin II Induces Skeletal Muscle Atrophy by Activating TFEB-Mediated MuRF1 Expression. Circ Res. 2015 Aug 14;117(5):424-36.

Berkholz J*, Orgeur M*, Stricker S, Munz B. skNAC and Smyd1 in transcriptional control. Exp Cell Res. 2015 Aug 15;336(2):182-91.

Philippi S*, Lorain S, Beley C, Peccate C, Précigout G, Spuler S, Garcia L. Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3’ splice sites. Hum Mol Genet. 2015 Jul 15;24(14):4049-60.

Zhu L, Malatras A*, Thorley M*, Aghoghogbe I, Mer A, Duguez S, Butler-Browne G, Voit T, Duddy W. CellWhere: graphical display of interaction networks organized on subcellular localizations. Nucleic Acids Res. 2015 Jul 1;43(W1):W571-5.

Thorley M*, Malatras A*, Duddy W*, Le Gall L, Mouly V, Butler-Browne G, Duguez S. Changes in communication between muscle stem cells and their environment with aging. J Neuromuscul Diseases. 2015. 2(3), pp. 205-217.

Timmel T†, Kunz S*†, Seifert F, Schuelke M, Spuler S. Cavin 1 function does not follow caveolar morphology. Am J Physiol Cell Physiol. 2015 Jun 15;308(12):C1023-30.
† shared first authorship

Zalc A*, Rattenbach R, Auradé F, Cadot B, Relaix F. Pax3 and Pax7 Play Essential Safeguard Functions against Environmental Stress-Induced Birth Defects. Dev Cell. 2015 Apr 6;33(1):56-66.

Chatzifrangkeskou M*, Bonne G, Muchir A. Nuclear envelope and striated muscle diseases. Curr Opin Cell Biol. 2015 Feb;32:1-6.


Berkholz J*, Kuzyniak W, Hoepfner M, Munz B. Overexpression of the skNAC gene in human rhabdomyosarcoma cells enhances their differentiation potential and inhibits tumor cell growth and spreading. Clin Exp Metastasis. 2014 Dec;31(8):869-79.

Grifone R, Xie X, Bourgeois A*, Saquet A, Duprez D, Shi DL. The RNA-binding protein Rbm24 is transiently expressed in myoblasts and is required for myogenic differentiation during vertebrate development. Mech Dev. 2014 Nov;134:1-15.

Marg A, Escobar H*, Gloy S, Kufeld M, Zacher J, Spuler A, Birchmeier C, Izsvák Z, Spuler S. Human satellite cells have regenerative capacity and are genetically manipulable. J Clin Invest. 2014 Oct 1;124(10):4257-65.

Schmidt F, Kny M, Zhu X, Wollersheim T, Persicke K, Langhans C*, Lodka D, Kleber C, Weber-Carstens S, Fielitz J. The E3 ubiquitin ligase TRIM62 and inflammation-induced skeletal muscle atrophy.Crit Care. 2014 Sep 29;18(5):545.

Falcone S, Roman W*, Hnia K, Gache V, Didier N, Lainé J, Auradé F, Marty I, Nishino I, Charlet-Berguerand N, Romero NB, Marazzi G, Sassoon D, Laporte J, Gomes ER. N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. EMBO Mol Med. 2014 Sep 28;6(11):1455-75.

Berkholz J*, Michalick L, Munz B. The E3 SUMO ligase Nse2 regulates sumoylation and nuclear-to-cytoplasmic translocation of skNAC-Smyd1 in myogenesis. J Cell Sci. 2014 Sep 1;127(Pt 17):3794-804.

Esteves de Lima J*, Bonnin MA, Bourgeois A*, Parisi A, Le Grand F, Duprez D. Specific pattern of cell cycle during limb fetal myogenesis. Dev Biol. 2014 Aug 15;392(2):308-23.

Ghannam K, Martinez-Gamboa L, Spengler L, Krause S, Smiljanovic B, Bonin M, Bhattarai S*, Grützkau A, Burmester GR, Häupl T, Feist E. Upregulation of immunoproteasome subunits in myositis indicates active inflammation with involvement of antigen presenting cells, CD8 T-cells and IFNΓ. PLoS One. 2014 Aug 6;9(8):e104048.

Zalc A*, Hayashi S, Auradé F, Bröhl D, Chang T, Mademtzoglou D*, Mourikis P, Yao Z, Cao Y, Birchmeier C, Relaix F. Antagonistic regulation of p57kip2 by Hes/Hey downstream of Notch signaling and muscle regulatory factors regulates skeletal muscle growth arrest. Development. 2014 Jul;141(14):2780-90.

Mouisel E, Relizani K*, Mille-Hamard L, Denis R, Hourdé C, Agbulut O, Patel K, Arandel L, Morales-Gonzalez S, Vignaud A, Garcia L, Ferry A, Luquet S, Billat V, Ventura-Clapier R, Schuelke M, Amthor H. Myostatin is a key mediator between energy metabolism and endurance capacity of skeletal muscle. Am J Physiol Regul Integr Comp Physiol. 2014 Aug 15;307(4):R444-54.

Relizani K*, Mouisel E, Giannesini B, Hourdé C, Patel K, Morales Gonzalez S, Jülich K, Vignaud A, Piétri-Rouxel F, Fortin D, Garcia L, Blot S, Ritvos O, Bendahan D, Ferry A, Ventura-Clapier R, Schuelke M, Amthor H. Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy. Mol Ther. 2014 Aug;22(8):1423-33.

Wollersheim T, Woehlecke J, Krebs M, Hamati J, Lodka D, Luther-Schroeder A, Langhans C*, Haas K, Radtke T, Kleber C, Spies C, Labeit S, Schuelke M, Spuler S, Spranger J, Weber-Carstens S, Fielitz J. Dynamics of myosin degradation in intensive care unit-acquired weakness during severe critical illness. Intensive Care Med. 2014 Apr;40(4):528-38.

von Renesse A, Petkova MV*, Lützkendorf S, Heinemeyer J, Gill E, Hübner C, von Moers A, Stenzel W, Schuelke M. POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. J Med Genet. 2014 Apr;51(4):275-82.

Langhans C*, Weber-Carstens S, Schmidt F, Hamati J, Kny M, Zhu X, Wollersheim T, Koch S, Krebs M, Schulz H, Lodka D, Saar K, Labeit S, Spies C, Hubner N, Spranger J, Spuler S, Boschmann M, Dittmar G, Butler-Browne G, Mouly V, Fielitz J. Inflammation-induced acute phase response in skeletal muscle and critical illness myopathy. PLoS One. 2014 Mar 20;9(3):e92048.

Mosler S, Relizani K*, Mouisel E, Amthor H, Diel P. Combinatory effects of siRNA-induced myostatin inhibition and exercise on skeletal muscle homeostasis and body composition. Physiol Rep. 2014 Mar 20;2(3):e00262.

Kuss P, Kraft K, Stumm J*, Ibrahim D, Vallecillo-Garcia P*, Mundlos S, Stricker S. Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A. Dev Biol. 2014 Jan 1;385(1):83-93.


Sartori R, Schirwis E*, Blaauw B, Bortolanza S, Zhao J, Enzo E, Stantzou A*, Mouisel E, Toniolo L, Ferry A, Stricker S, Goldberg AL, Dupont S, Piccolo S, Amthor H, Sandri M. BMP signaling controls muscle mass. Nat Genet. 2013 Nov;45(11):1309-18.

Pakula A*, Schneider J, Janke J, Zacharias U, Schulz H, Hübner N, Mähler A, Spuler A, Spuler S, Carlier P, Boschmann M. Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1). PLoS One. 2013 Sep 3;8(9):e73573.

Lorain S, Peccate C, Le Hir M, Griffith G, Philippi S*, Précigout G, Mamchaoui K, Jollet A, Voit T, Garcia L. Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches. Nucleic Acids Res. 2013 Sep;41(17):8391-402.

Berkholz J*, Zakrzewicz A, Munz B. skNAC depletion stimulates myoblast migration and perturbs sarcomerogenesis by enhancing calpain 1 and 3 activity. Biochem J. 2013 Jul 15;453(2):303-10.

Pascoal S, Esteves de Lima J*, Leslie JD, Hughes SM, Saúde L. Notch signalling is required for the formation of structurally stable muscle fibres in zebrafish. PLoS One. 2013 Jun 28;8(6):e68021.

Lagha M, Mayeuf-Louchart A, Chang T, Montarras D, Rocancourt D, Zalc A*, Kormish J, Zaret KS, Buckingham ME, Relaix F. Itm2a is a Pax3 target gene, expressed at sites of skeletal muscle formation in vivo. PLoS One. PLoS One. 2013 May 1;8(5):e63143.

Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C*, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet. 2013 May 2;92(5):681-95.

Weber-Carstens S, Schneider J, Wollersheim T, Assmann A, Bierbrauer J, Marg A, Al Hasani H, Chadt A, Wenzel K, Koch S, Fielitz J, Kleber C, Faust K, Mai K, Spies CD, Luft FC, Boschmann M, Spranger J, Spuler S. Critical illness myopathy and GLUT4: significance of insulin and muscle contraction. Am J Respir Crit Care Med. 2013 Feb 15;187(4):387-96.

Schirwis E*, Agbulut O, Vadrot N, Mouisel E, Hourdé C, Bonnieu A, Butler-Browne G, Amthor H, Ferry A. The beneficial effect of myostatin deficiency on maximal muscle force and power is attenuated with age. Exp Gerontol. 2013 Feb;48(2):183-90.


Hoogaars WM, Mouisel E, Pasternack A, Hulmi JJ, Relizani K*, Schuelke M, Schirwis E*, Garcia L, Ritvos O, Ferry A, 't Hoen PA, Amthor H. Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice. Hum Gene Ther. 2012 Dec;23(12):1269-79.

Schoewel V, Marg A, Kunz S*, Overkamp T, Carrazedo RS, Zacharias U, Daniel PT, Spuler S. Dysferlin-peptides reallocate mutated dysferlin thereby restoring function. PLoS One. 2012;7(11):e49603.

Bröhl D, Vasyutina E, Czajkowski MT, Griger J*, Rassek C, Rahn HP, Purfürst B, Wende H, Birchmeier C. Colonization of the satellite cell niche by skeletal muscle progenitor cells depends on Notch signals. Dev Cell. 2012 Sep 11;23(3):469-81.

Meyer SU, Kaiser S, Wagner C, Thirion C, Pfaffl MW. Profound effect of profiling platform and normalization strategy on detection of differentially expressed microRNAs – a comparative study. PLoS One 2012; 7: e38946.

Marg A1, Schoewel V, Timmel T, Schulze A, Shah C, Daumke O, Spuler S. Sarcolemmal repair is a slow process and includes EHD2.Traffic. 2012 Sep;13(9):1286-94.

Bierbrauer J, Koch S, Olbricht C, Hamati J, Lodka D, Schneider J*, Luther-Schröder A, Kleber C, Faust K, Wiesener S, Spies CD, Spranger J, Spuler S, Fielitz J, Weber-Carstens S. Early type II fiber atrophy in intensive care unit patients with nonexcitable muscle membrane. Crit Care Med 2012; 40: 647-50.

Philippi S*, Bigot A, Marg A, Mouly V, Spuler S, Zacharias U. Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy. Version 2. PLoS Curr. 2012 Feb 2 [revised 2012 Feb28];4:RRN1298.

Berger F†, Berkholz J†*, Breustedt T, Ploen D, Munz B. Skeletal muscle-specific variant of nascent polypeptide associated complex alpha (skNAC): implications for a specific role in mammalian myoblast differentiation. Eur J Cell Biol. 2012 Feb;91(2):150-5.† shared first authorship


Mamchaoui K, Trollet C, Bigot A, Negroni E, Chaouch S, Wolff A, Kandalla PK, Marie S, Di Santo J, St Guily JL, Muntoni F, Kim J, Philippi S*, Spuler S, Levy N, Blumen SC, Voit T, Wright WE, Aamiri A, Butler-Browne G, Mouly V. Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders. Skelet Muscle. 2011 Nov 1;1:34.


Meyer SU, Pfaffl MW, Ulbrich SE. Normalization strategies for microRNA profiling experiments: a 'normal' way to a hidden layer of complexity? Biotechnol Lett 2010; 32: 1777-88.