Publications by MyoGrad students

* former/current MyoGrad student


Radke MH, Polack C*, Methawasin M, Fink C, Granzier HL, Gotthardt M. Deleting Full Length Titin Versus the Titin M-Band Region Leads to Differential Mechanosignaling and Cardiac Phenotypes. Circulation. 2019;139(15):1813-27. doi: 10.1161/circulationaha.118.037588

Malatras A*, Duguez S, Duddy W. Muscle Gene Sets: a versatile methodological aid to functional genomics in the neuromuscular field. Skeletal muscle. 2019;9(1):10. doi: 10.1186/s13395-019-0196-z

Lahmann I, Brohl D, Zyrianova T, Isomura A, Czajkowski MT, Kapoor V, Griger J*, Ruffault PL, Mademtzoglou D*, Zammit PS, Wunderlich T, Spuler S, Kuhn R, Preibisch S, Wolf J, Kageyama R, Birchmeier C. Oscillations of MyoD and Hes1 proteins regulate the maintenance of activated muscle stem cells. Genes Dev. 2019;33(9-10):524-35. doi: 10.1101/gad.322818.118

Gerhalter T*, Gast LV, Marty B, Martin J, Trollmann R, Schussler S, Roemer F, Laun FB, Uder M, Schroder R, Carlier PG, Nagel AM. (23) Na MRI Depicts Early Changes in Ion Homeostasis in Skeletal Muscle Tissue of Patients With Duchenne Muscular Dystrophy. J Magn Reson Imaging. 2019. doi: 10.1002/jmri.26681

Der Vartanian A, Quetin M*, Michineau S, Aurade F, Hayashi S, Dubois C, Rocancourt D, Drayton-Libotte B, Szegedi A, Buckingham M, Conway SJ, Gervais M, Relaix F. PAX3 Confers Functional Heterogeneity in Skeletal Muscle Stem Cell Responses to Environmental Stress. Cell Stem Cell. 2019;24(6):958-973.e9. doi: 10.1016/j.stem.2019.03.019


Stumm J*, Vallecillo-Garcia P*, Vom Hofe-Schneider S*, Ollitrault D, Schrewe H, Economides AN, Marazzi G, Sassoon DA, Stricker S. Odd skipped-related 1 (Osr1) identifies muscle-interstitial fibro-adipogenic progenitors (FAPs) activated by acute injury. Stem Cell Research. 2018;32:8-16. doi: 10.1016/j.scr.2018.08.010

Roman W*, Pimentel MR, Gomes ER. An In Vitro System to Measure the Positioning, Stiffness, and Rupture of the Nucleus in Skeletal Muscle. Methods Mol Biol. 2018;1840:283-93. doi: 10.1007/978-1-4939-8691-0_19
Roman W*, Martins JP, Gomes ER. Local Arrangement of Fibronectin by Myofibroblasts Governs Peripheral Nuclear Positioning in Muscle Cells. Dev Cell. 2018;46(1):102-11.e6. doi: 10.1016/j.devcel.2018.05.031

Relizani K*, Goyenvalle A. The Use of Antisense Oligonucleotides for the Treatment of Duchenne Muscular Dystrophy. Methods Mol Biol. 2018;1687:171-83. doi: 10.1007/978-1-4939-7374-3_12

Orgeur M*, Martens M, Leonte G, Nassari S*, Bonnin MA, Börno ST, Timmermann B, Hecht J, Duprez D, Stricker S. Genome-wide strategies identify downstream target genes of chick connective tissue-associated transcription factors. Development. 2018;145(7). pii: dev161208. doi: 10.1242/dev.161208.

Orgeur M*, Martens M, Börno ST, Timmermann B, Duprez D, Stricker S. A dual transcript-discovery approach to improve the delimitation of gene features from RNA-seq data in the chicken model. Biol Open. 2018;7(1). pii: bio028498. doi: 10.1242/bio.028498.

Malcher J*, Heidt L*, Goyenvalle A, Escobar H*, Marg A, Beley C, Benchaouir R, Bader M, Spuler S, Garcia L, Schowel V. Exon Skipping in a Dysf-Missense Mutant Mouse Model. Mol Ther Nucleic Acids. 2018;13:198-207. doi: 10.1016/j.omtn.2018.08.013

Mademtzoglou D*, Asakura Y, Borok MJ, Alonso-Martin S, Mourikis P, Kodaka Y, Mohan A, Asakura A, Relaix F. Cellular localization of the cell cycle inhibitor Cdkn1c controls growth arrest of adult skeletal muscle stem cells. eLife 2018;7. doi: 10.7554/eLife.33337

Macquart C*, Juttner R, Le Dour C, Chatzifrangkeskou M*, Schmitt A, Gotthardt M, Bonne G, Muchir A. Microtubule cytoskeleton regulates connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene. Hum Mol Genet. 2018. doi: 10.1093/hmg/ddy227

Langer HT*, Senden JMG, Gijsen AP, Kempa S, van Loon LJC, Spuler S. Muscle Atrophy Due to Nerve Damage Is Accompanied by Elevated Myofibrillar Protein Synthesis Rates. Front Physiol. 2018;9:1220. doi: 10.3389/fphys.2018.01220

Chatzifrangkeskou M*, Yadin D, Marais T, Chardonnet S, Cohen-Tannoudji M, Mougenot N, Schmitt A, Crasto S, Di Pasquale E, Macquart C*, Tanguy Y, Jebeniani I, Puceat M, Morales Rodriguez B, Goldmann WH, Dal Ferro M, Biferi MG, Knaus P, Bonne G, Worman HJ, Muchir A. Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation. Hum Mol Genet. 2018;27(17):3060-78. doi: 10.1093/hmg/ddy215

Azibani F, Brull A, Arandel L, Beuvin M, Nelson I, Jollet A, Ziat E*, Prudhon B, Benkhelifa-Ziyyat S, Bitoun M, Lorain S, Bonne G, Bertrand AT. Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy. Mol Ther Nucleic Acids 2018;10:376-86. doi: 10.1016/j.omtn.2017.12.012


Vallecillo-Garcia P*, Orgeur M*, Vom Hofe-Schneider S*, Stumm J*, Kappert V, Ibrahim DM, Borno ST, Hayashi S, Relaix F, Hildebrandt K, Sengle G, Koch M, Timmermann B, Marazzi G, Sassoon DA, Duprez D, Stricker S. Odd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb development. Nat Commun. 2017;8:1218. doi: 10.1038/s41467-017-01120-3

Ueberschlag-Pitiot V, Stantzou A*, Messeant J, Lemaitre M, Owens DJ, Noirez P, Roy P, Agbulut O, Metzger D, Ferry A. Gonad-related factors promote muscle performance gain during postnatal development in male and female mice. Am J Physiol Endocrinol Metab. 2017;313(1):E12-e25. doi: 10.1152/ajpendo.00446.2016

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

Stantzou A*, Schirwis E*, Swist S, Alonso-Martin S, Polydorou I*, Zarrouki F, Mouisel E, Beley C, Julien A, Le Grand F, Garcia L, Colnot C, Birchmeier C, Braun T, Schuelke M, Relaix F, Amthor H. BMP signaling regulates satellite cell-dependent postnatal muscle growth. Development. 2017;144:2737-2747. doi: 10.1242/dev.144089

Scionti I, Hayashi S, Mouradian S, Girard E, Esteves de Lima J*, Morel V, Simonet T, Wurmser M, Maire P, Ancelin K, Metzger E, Schule R, Goillot E, Relaix F, Schaeffer L. LSD1 Controls Timely MyoD Expression via MyoD Core Enhancer Transcription. Cell Rep. 2017;18:1996-2006. doi: 10.1016/j.celrep.2017.01.078

Schwartz C*, Fischer M*, Mamchaoui K, Bigot A, Lok T, Verdier C, Duperray A, Michel R, Holt I, Voit T, Quijano-Roy S, Bonne G, Coirault C. Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1. Sci Rep. 2017;7:1253. doi: 10.1038/s41598-017-01324-z

Samson C*, Celli F, Hendriks K, Zinke M, Essawy N*, Herrada I, Arteni AA, Theillet FX, Alpha-Bazin B, Armengaud J, Coirault C, Lange A, Zinn-Justin S. Emerin self-assembly mechanism: role of the LEM domain. FEBS J. 2017;284:338-352. doi: 10.1111/febs.13983

Roman W*, Martins JP, Carvalho FA, Voituriez R, Abella JVG, Santos NC, Cadot B, Way M, Gomes ER. Myofibril contraction and crosslinking drive nuclear movement to the periphery of skeletal muscle. Nat Cell Biol. 2017;19:1189-1201. doi: 10.1038/ncb3605

Roman W*, Gomes ER. Nuclear positioning in skeletal muscle. Semin Cell Dev Biol. 2017. doi: 10.1016/j.semcdb.2017.11.005

Relizani K*, Griffith G, Echevarria L, Zarrouki F, Facchinetti P, Vaillend C, Leumann C, Garcia L, Goyenvalle A. Efficacy and Safety Profile of Tricyclo-DNA Antisense Oligonucleotides in Duchenne Muscular Dystrophy Mouse Model. Mol Ther Nucleic Acids. 2017;8:144-157. doi: 10.1016/j.omtn.2017.06.013

Nassari S*, Duprez D, Fournier-Thibault C. Non-myogenic Contribution to Muscle Development and Homeostasis: The Role of Connective Tissues. Front Cell Dev Biol. 2017;5:22. doi: 10.3389/fcell.2017.00022

Nassari S*, Blavet C, Bonnin MA, Stricker S, Duprez D, Fournier-Thibault C. The chemokines CXCL12 and CXCL14 differentially regulate connective tissue markers during limb development. Sci Rep. 2017;7:17279. doi: 10.1038/s41598-017-17490-z

Milet C, Bleher M, Allbright K, Orgeur M*, Coulpier F, Duprez D, Havis E. Egr1 deficiency induces browning of inguinal subcutaneous white adipose tissue in mice. Sci Rep. 2017;7:16153. doi: 10.1038/s41598-017-16543-7

Mademtzoglou D*, Alonso-Martin S, Chang TH, Bismuth K, Drayton-Libotte B, Aurade F, Relaix F. A p57 conditional mutant allele that allows tracking of p57-expressing cells. Genesis. 2017;55(4). doi: 10.1002/dvg.23025

Machado L, Esteves de Lima J*, Fabre O, Proux C, Legendre R, Szegedi A, Varet H, Ingerslev LR, Barres R, Relaix F, Mourikis P. In Situ Fixation Redefines Quiescence and Early Activation of Skeletal Muscle Stem Cells. Cell Rep. 2017;21:1982-1993. doi: 10.1016/j.celrep.2017.10.080

Le Dour C, Macquart C*, Sera F, Homma S, Bonne G, Morrow JP, Worman HJ, Muchir A. Decreased WNT/beta-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene. Hum Mol Genet. 2017;26:333-343. doi: 10.1093/hmg/ddw389

Imbert M, Dias-Florencio G*, Goyenvalle A. Viral Vector-Mediated Antisense Therapy for Genetic Diseases. Genes. 2017;8(2). doi: 10.3390/genes8020051

Griger J*, Schneider R, Lahmann I, Schowel V, Keller C, Spuler S, Nazare M, Birchmeier C. Loss of Ptpn11 (Shp2) drives satellite cells into quiescence. eLife. 2017;6. doi: 10.7554/eLife.21552

Gimpel P*, Lee YL, Sobota RM, Calvi A, Koullourou V, Patel R, Mamchaoui K, Nedelec F, Shackleton S, Schmoranzer J, Burke B, Cadot B, Gomes ER. Nesprin-1alpha-Dependent Microtubule Nucleation from the Nuclear Envelope via Akap450 Is Necessary for Nuclear Positioning in Muscle Cells. Curr Biol. 2017;27:2999-3009.e9. doi: 10.1016/j.cub.2017.08.031

Gerhalter T*, Carlier PG, Marty B. Acute changes in extracellular volume fraction in skeletal muscle monitored by (23)Na NMR spectroscopy. Physiol Rep. 2017;5(16). doi: 10.14814/phy2.13380

Defour A, Medikayala S, Van der Meulen JH, Hogarth MW, Holdreith N, Malatras A*, Duddy W, Boehler J, Nagaraju K, Jaiswal JK. Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle. Hum Mol Genet. 2017;26(11):1979-1991. doi: 10.1093/hmg/ddx065

Aupy P, Echevarria L, Relizani K*, Goyenvalle A. The Use of Tricyclo-DNA Oligomers for the Treatment of Genetic Disorders. Biomedicines. 2017;6(1). doi: 10.3390/biomedicines6010002


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;3(4):497-510. doi: 10.3233/JND-160169.

Thorley M*, Duguez S, Mazza EMC, Valsoni S, Bigot A, Mamchaoui K, Harmon B, Voit T, Mouly V, Duddy W. Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines. Skeletal Muscle 2016;6(1):43. doi: 10.1186/s13395-016-0115-5

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;6:25. doi: 10.1186/s13395-016-0095-5

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. doi:10.1016/j.ebiom.2016.03.017

Havis E, Bonnin MA, Esteves de Lima* J, Charvet B, Milet C, Duprez D. TGFbeta and FGF promote tendon progenitor fate and act downstream of muscle contraction to regulate tendon differentiation during chick limb development. Development. 2016;143(20):3839-51. doi: 10.1242/dev.136242

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

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;5. pii: e15593. doi: 0.7554/eLife.15593

Escobar H*, Schowel V, Spuler S, Marg A, Izsvak Z. Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient Muscle. Mol Ther Nucleic Acids. 2016;5:e277. doi: 10.1038/mtna.2015.52

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;25(8):1559-73. doi: 10.1093/hmg/ddw033

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;25(11):2220-2233. pii: ddw090. [Epub ahead of print] doi: 10.1093/hmg/ddw090

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;3:16035. doi: 10.1038/mtm.2016.35. eCollection 2016.

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;75:118-129. doi: 10.1016/j.jaut.2016.08.004. Epub 2016 Aug 10.

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;310(7):E539-49. doi: 10.1152/ajpendo.00370.2015

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;4:58. doi: 10.3389/fcell.2016.00058

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;98(3):473-89. doi: 10.1016/j.ajhg.2016.01.006


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;43(W1):W571-5. doi: 10.1093/nar/gkv354

Zalc A*, Relaix F. [Pax3 and Pax7 play essential safeguard functions against environmental stress-induced birth defects]. Med Sci (Paris). 2015;31(8-9):723-5. doi: 10.1051/medsci/20153108007

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;33(1):56-66. doi: 10.1016/j.devcel.2015.02.006

Timmel T†, Kunz S*†, Seifert F, Schuelke M, Spuler S. Cavin 1 function does not follow caveolar morphology. Am J Physiol Cell Physiol. 2015;308(12):C1023-30. doi: 10.1152/ajpcell.00329.2014
† shared first authorship

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 Dis. 2015;2(3):205-217. doi: 10.3233/jnd-150097

Philippi S*, Lorain S, Beley C, Peccate C, Precigout 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;24(14):4049-60. doi: 10.1093/hmg/ddv141

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;117(5):424-36. doi: 10.1161/circresaha.114.305393

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;2:15024. doi: 10.1038/mtm.2015.24

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.

Chatzifrangkeskou M*, Bonne G, Muchir A. Nuclear envelope and striated muscle diseases. Curr Opin Cell Biol. 2015;32:1-6. doi: 10.1016/

Berkholz J*, Orgeur M*, Stricker S, Munz B. skNAC and Smyd1 in transcriptional control. Exp Cell Res. 2015;336(2):182-91.
doi: 10.1016/j.yexcr.2015.06.019


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;141(14):2780-90. doi: 10.1242/dev.110155

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;40(4):528-38. doi: 10.1007/s00134-014-3224-9

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;51(4):275-82. doi: 10.1136/jmedgenet-2013-102236

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;18(5):545. doi: 10.1186/s13054-014-0545-6

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;22(8):1423-33. doi: 10.1038/mt.2014.90

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;307(4):R444-54. doi: 10.1152/ajpregu.00377.2013

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;;2(3):e00262. doi: 10.1002/phy2.262

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;124(10):4257-65. doi: 10.1172/JCI63992

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;9(3):e92048. doi: 10.1371/journal.pone.0092048

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;385(1):83-93. doi: 10.1016/j.ydbio.2013.10.013

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;134:1-15. doi: 10.1016/j.mod.2014.08.003

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;9(8):e104048. doi: 10.1371/journal.pone.0104048

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;6(11):1455-75. doi: 10.15252/emmm.201404436

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;392(2):308-23. doi: 10.1016/j.ydbio.2014.05.015

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;127(Pt 17):3794-804. doi: 10.1242/jcs.150334

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;31(8):869-79. doi: 10.1007/s10585-014-9676-z


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;45(11):1309-18. doi: 10.1038/ng.2772

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;8(9):e73573. doi: 10.1371/journal.pone.0073573

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;41(17):8391-402. doi: 10.1093/nar/gkt621

Berkholz J*, Zakrzewicz A, Munz B. skNAC depletion stimulates myoblast migration and perturbs sarcomerogenesis by enhancing calpain 1 and 3 activity. Biochem J. 2013;453(2):303-10. doi: 10.1042/bj20130195

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;8(6):e68021. doi: 10.1371/journal.pone.0068021

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. 2013;8(5):e63143. doi: 10.1371/journal.pone.0063143

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;92(5):681-95. doi: 10.1016/j.ajhg.2013.03.021

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;187(4):387-96. doi: 10.1164/rccm.201209-1649OC

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;48(2):183-90. doi: 10.1016/j.exger.2012.11.008


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;23(12):1269-79. doi: 10.1089/hum.2012.056

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. doi: 10.1371/journal.pone.0049603

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;23(3):469-81. doi: 10.1016/j.devcel.2012.07.014

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. doi: 10.1371/journal.pone.0038946

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. doi: 10.1097/CCM.0b013e31823295e6

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:RRN1298. doi: 10.1371/currents.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;91(2):150-5.† shared first authorship
doi: 10.1016/j.ejcb.2011.10.004


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;1:34. doi: 10.1186/2044-5040-1-34


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. doi: 10.1007/s10529-010-0380-z

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