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Items: 47


miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context.

Guilbaud M, Gentil C, Peccate C, Gargaun E, Holtzmann I, Gruszczynski C, Falcone S, Mamchaoui K, Ben Yaou R, Leturcq F, Jeanson-Leh L, Piétri-Rouxel F.

Skelet Muscle. 2018 Apr 27;8(1):15. doi: 10.1186/s13395-018-0161-2.


A novel long non-coding RNA Myolinc regulates myogenesis through TDP-43 and Filip1.

Militello G, Hosen MR, Ponomareva Y, Gellert P, Weirick T, John D, Hindi SM, Mamchaoui K, Mouly V, Döring C, Zhang L, Nakamura M, Kumar A, Fukada SI, Dimmeler S, Uchida S.

J Mol Cell Biol. 2018 Apr 1;10(2):102-117. doi: 10.1093/jmcb/mjy025.


Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.

Trochet D, Prudhon B, Beuvin M, Peccate C, Lorain S, Julien L, Benkhelifa-Ziyyat S, Rabai A, Mamchaoui K, Ferry A, Laporte J, Guicheney P, Vassilopoulos S, Bitoun M.

EMBO Mol Med. 2018 Feb;10(2):239-253. doi: 10.15252/emmm.201707988.


Myoblots: dystrophin quantification by in-cell western assay for a streamlined development of Duchenne muscular dystrophy (DMD) treatments.

Ruiz-Del-Yerro E, Garcia-Jimenez I, Mamchaoui K, Arechavala-Gomeza V.

Neuropathol Appl Neurobiol. 2017 Oct 31. doi: 10.1111/nan.12448. [Epub ahead of print]


Nesprin-1α-Dependent Microtubule Nucleation from the Nuclear Envelope via Akap450 Is Necessary for Nuclear Positioning in Muscle Cells.

Gimpel P, Lee YL, Sobota RM, Calvi A, Koullourou V, Patel R, Mamchaoui K, Nédélec F, Shackleton S, Schmoranzer J, Burke B, Cadot B, Gomes ER.

Curr Biol. 2017 Oct 9;27(19):2999-3009.e9. doi: 10.1016/j.cub.2017.08.031. Epub 2017 Sep 28.


Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy.

Echigoya Y, Lim KRQ, Trieu N, Bao B, Miskew Nichols B, Vila MC, Novak JS, Hara Y, Lee J, Touznik A, Mamchaoui K, Aoki Y, Takeda S, Nagaraju K, Mouly V, Maruyama R, Duddy W, Yokota T.

Mol Ther. 2017 Nov 1;25(11):2561-2572. doi: 10.1016/j.ymthe.2017.07.014. Epub 2017 Jul 28.


Obestatin Increases the Regenerative Capacity of Human Myoblasts Transplanted Intramuscularly in an Immunodeficient Mouse Model.

Santos-Zas I, Negroni E, Mamchaoui K, Mosteiro CS, Gallego R, Butler-Browne GS, Pazos Y, Mouly V, Camiña JP.

Mol Ther. 2017 Oct 4;25(10):2345-2359. doi: 10.1016/j.ymthe.2017.06.022. Epub 2017 Jul 24.


Short (16-mer) locked nucleic acid splice-switching oligonucleotides restore dystrophin production in Duchenne Muscular Dystrophy myotubes.

Pires VB, Simões R, Mamchaoui K, Carvalho C, Carmo-Fonseca M.

PLoS One. 2017 Jul 24;12(7):e0181065. doi: 10.1371/journal.pone.0181065. eCollection 2017.


Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System.

Lattanzi A, Duguez S, Moiani A, Izmiryan A, Barbon E, Martin S, Mamchaoui K, Mouly V, Bernardi F, Mavilio F, Bovolenta M.

Mol Ther Nucleic Acids. 2017 Jun 16;7:11-19. doi: 10.1016/j.omtn.2017.02.004. Epub 2017 Feb 10.


Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1.

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.

Sci Rep. 2017 Apr 28;7(1):1253. doi: 10.1038/s41598-017-01324-z.


PABPN1 gene therapy for oculopharyngeal muscular dystrophy.

Malerba A, Klein P, Bachtarzi H, Jarmin SA, Cordova G, Ferry A, Strings V, Espinoza MP, Mamchaoui K, Blumen SC, St Guily JL, Mouly V, Graham M, Butler-Browne G, Suhy DA, Trollet C, Dickson G.

Nat Commun. 2017 Mar 31;8:14848. doi: 10.1038/ncomms14848.


Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds.

Arandel L, Polay Espinoza M, Matloka M, Bazinet A, De Dea Diniz D, Naouar N, Rau F, Jollet A, Edom-Vovard F, Mamchaoui K, Tarnopolsky M, Puymirat J, Battail C, Boland A, Deleuze JF, Mouly V, Klein AF, Furling D.

Dis Model Mech. 2017 Apr 1;10(4):487-497. doi: 10.1242/dmm.027367. Epub 2017 Feb 10.


Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines.

Thorley M, Duguez S, Mazza EMC, Valsoni S, Bigot A, Mamchaoui K, Harmon B, Voit T, Mouly V, Duddy W.

Skelet Muscle. 2016 Dec 8;6(1):43. doi: 10.1186/s13395-016-0115-5.


FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.

Ziat E, Mamchaoui K, Beuvin M, Nelson I, Azibani F, Spuler S, Bonne G, Bertrand AT.

J Neuromuscul Dis. 2016 Nov 29;3(4):497-510.


Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

Cacheux M, Blum A, Sébastien M, Wozny AS, Brocard J, Mamchaoui K, Mouly V, Roux-Buisson N, Rendu J, Monnier N, Krivosic R, Allen P, Lacour A, Lunardi J, Fauré J, Marty I.

J Neuromuscul Dis. 2015 Nov 20;2(4):421-432.


Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma.

Böhm M, Wachtel M, Marques JG, Streiff N, Laubscher D, Nanni P, Mamchaoui K, Santoro R, Schäfer BW.

J Clin Invest. 2016 Nov 1;126(11):4237-4249. doi: 10.1172/JCI85057. Epub 2016 Oct 17.


Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody.

Holt I, Duong NT, Zhang Q, Lam le T, Sewry CA, Mamchaoui K, Shanahan CM, Morris GE.

BMC Cell Biol. 2016 Jun 27;17(1):26. doi: 10.1186/s12860-016-0105-9.


Membrane repair of human skeletal muscle cells requires Annexin-A5.

Carmeille R, Bouvet F, Tan S, Croissant C, Gounou C, Mamchaoui K, Mouly V, Brisson AR, Bouter A.

Biochim Biophys Acta. 2016 Sep;1863(9):2267-79. doi: 10.1016/j.bbamcr.2016.06.003. Epub 2016 Jun 7.


Laminopathies disrupt epigenomic developmental programs and cell fate.

Perovanovic J, Dell'Orso S, Gnochi VF, Jaiswal JK, Sartorelli V, Vigouroux C, Mamchaoui K, Mouly V, Bonne G, Hoffman EP.

Sci Transl Med. 2016 Apr 20;8(335):335ra58. doi: 10.1126/scitranslmed.aad4991.


Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD.

Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10.


Synthetically modified mRNA for efficient and fast human iPS cell generation and direct transdifferentiation to myoblasts.

Preskey D, Allison TF, Jones M, Mamchaoui K, Unger C.

Biochem Biophys Res Commun. 2016 May 6;473(3):743-51. doi: 10.1016/j.bbrc.2015.09.102. Epub 2015 Oct 9. Review.


ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy.

Kim E, Rich J, Karoutas A, Tarlykov P, Cochet E, Malysheva D, Mamchaoui K, Ogryzko V, Pirozhkova I.

Nucleic Acids Res. 2015 Sep 30;43(17):8227-42. doi: 10.1093/nar/gkv721. Epub 2015 Jul 15.


FUBP1: a new protagonist in splicing regulation of the DMD gene.

Miro J, Laaref AM, Rofidal V, Lagrafeuille R, Hem S, Thorel D, Méchin D, Mamchaoui K, Mouly V, Claustres M, Tuffery-Giraud S.

Nucleic Acids Res. 2015 Feb 27;43(4):2378-89. doi: 10.1093/nar/gkv086. Epub 2015 Feb 6.


Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.

Bertrand AT, Ziaei S, Ehret C, Duchemin H, Mamchaoui K, Bigot A, Mayer M, Quijano-Roy S, Desguerre I, Lainé J, Ben Yaou R, Bonne G, Coirault C.

J Cell Sci. 2014 Jul 1;127(Pt 13):2873-84. doi: 10.1242/jcs.144907. Epub 2014 May 7.


Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.

Bianchini E, Fanin M, Mamchaoui K, Betto R, Sandonà D.

Hum Mol Genet. 2014 Jul 15;23(14):3746-58. doi: 10.1093/hmg/ddu088. Epub 2014 Feb 23.


Myeloid related protein induces muscle derived inflammatory mediators in juvenile dermatomyositis.

Nistala K, Varsani H, Wittkowski H, Vogl T, Krol P, Shah V, Mamchaoui K, Brogan PA, Roth J, Wedderburn LR.

Arthritis Res Ther. 2013 Sep 23;15(5):R131. doi: 10.1186/ar4311.


Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches.

Lorain S, Peccate C, Le Hir M, Griffith G, Philippi S, Précigout G, Mamchaoui K, Jollet A, Voit T, Garcia L.

Nucleic Acids Res. 2013 Sep;41(17):8391-402. doi: 10.1093/nar/gkt621. Epub 2013 Jul 16.


Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase I/IIa clinical study.

Périé S, Trollet C, Mouly V, Vanneaux V, Mamchaoui K, Bouazza B, Marolleau JP, Laforêt P, Chapon F, Eymard B, Butler-Browne G, Larghero J, St Guily JL.

Mol Ther. 2014 Jan;22(1):219-25. doi: 10.1038/mt.2013.155. Epub 2013 Jul 8.


Gene correction of a duchenne muscular dystrophy mutation by meganuclease-enhanced exon knock-in.

Popplewell L, Koo T, Leclerc X, Duclert A, Mamchaoui K, Gouble A, Mouly V, Voit T, Pâques F, Cédrone F, Isman O, Yáñez-Muñoz RJ, Dickson G.

Hum Gene Ther. 2013 Jul;24(7):692-701. doi: 10.1089/hum.2013.081.


RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

Zhou H, Rokach O, Feng L, Munteanu I, Mamchaoui K, Wilmshurst JM, Sewry C, Manzur AY, Pillay K, Mouly V, Duchen M, Jungbluth H, Treves S, Muntoni F.

Hum Mutat. 2013 Jul;34(7):986-96. doi: 10.1002/humu.22326. Epub 2013 Apr 17.


Shift from extracellular signal-regulated kinase to AKT/cAMP response element-binding protein pathway increases survival-motor-neuron expression in spinal-muscular-atrophy-like mice and patient cells.

Branchu J, Biondi O, Chali F, Collin T, Leroy F, Mamchaoui K, Makoukji J, Pariset C, Lopes P, Massaad C, Chanoine C, Charbonnier F.

J Neurosci. 2013 Mar 6;33(10):4280-94. doi: 10.1523/JNEUROSCI.2728-12.2013.


Rescue of nonsense mutations by amlexanox in human cells.

Gonzalez-Hilarion S, Beghyn T, Jia J, Debreuck N, Berte G, Mamchaoui K, Mouly V, Gruenert DC, Déprez B, Lejeune F.

Orphanet J Rare Dis. 2012 Aug 31;7:58. doi: 10.1186/1750-1172-7-58.


Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.

Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ, van Engelen BG, Mouly V, Butler-Browne GS, van der Maarel SM.

Am J Pathol. 2012 Oct;181(4):1387-401. doi: 10.1016/j.ajpath.2012.07.007. Epub 2012 Aug 4.


Regenerative potential of human muscle stem cells in chronic inflammation.

Duijnisveld BJ, Bigot A, Beenakker KG, Portilho DM, Raz V, van der Heide HJ, Visser CP, Chaouch S, Mamchaoui K, Westendorp RG, Mouly V, Butler-Browne GS, Nelissen RG, Maier AB.

Arthritis Res Ther. 2011;13(6):R207. doi: 10.1186/ar3540. Epub 2011 Dec 15.


Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders.

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.

Skelet Muscle. 2011 Nov 1;1:34. doi: 10.1186/2044-5040-1-34.


Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G.

Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26.


Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells.

Chaouch S, Mouly V, Goyenvalle A, Vulin A, Mamchaoui K, Negroni E, Di Santo J, Butler-Browne G, Torrente Y, Garcia L, Furling D.

Hum Gene Ther. 2009 Jul;20(7):784-90. doi: 10.1089/hum.2008.163.


Inhibition of Chikungunya virus infection in cultured human muscle cells by furin inhibitors: impairment of the maturation of the E2 surface glycoprotein.

Ozden S, Lucas-Hourani M, Ceccaldi PE, Basak A, Valentine M, Benjannet S, Hamelin J, Jacob Y, Mamchaoui K, Mouly V, Desprès P, Gessain A, Butler-Browne G, Chrétien M, Tangy F, Vidalain PO, Seidah NG.

J Biol Chem. 2008 Aug 8;283(32):21899-908. doi: 10.1074/jbc.M802444200. Epub 2008 Jun 17.


Cellular senescence in human myoblasts is overcome by human telomerase reverse transcriptase and cyclin-dependent kinase 4: consequences in aging muscle and therapeutic strategies for muscular dystrophies.

Zhu CH, Mouly V, Cooper RN, Mamchaoui K, Bigot A, Shay JW, Di Santo JP, Butler-Browne GS, Wright WE.

Aging Cell. 2007 Aug;6(4):515-23. Epub 2007 Jun 8.


Impact on oxidative phosphorylation of immortalization with the telomerase gene.

Auré K, Mamchaoui K, Frachon P, Butler-Browne GS, Lombès A, Mouly V.

Neuromuscul Disord. 2007 May;17(5):368-75. Epub 2007 Mar 23.


Premature proliferative arrest of cricopharyngeal myoblasts in oculo-pharyngeal muscular dystrophy: Therapeutic perspectives of autologous myoblast transplantation.

Périé S, Mamchaoui K, Mouly V, Blot S, Bouazza B, Thornell LE, St Guily JL, Butler-Browne G.

Neuromuscul Disord. 2006 Nov;16(11):770-81. Epub 2006 Sep 26.


Myoblast transfer therapy: is there any light at the end of the tunnel?

Mouly V, Aamiri A, Périé S, Mamchaoui K, Barani A, Bigot A, Bouazza B, François V, Furling D, Jacquemin V, Negroni E, Riederer I, Vignaud A, St Guily JL, Butler-Browne GS.

Acta Myol. 2005 Oct;24(2):128-33. Review.


The mitotic clock in skeletal muscle regeneration, disease and cell mediated gene therapy.

Mouly V, Aamiri A, Bigot A, Cooper RN, Di Donna S, Furling D, Gidaro T, Jacquemin V, Mamchaoui K, Negroni E, Périé S, Renault V, Silva-Barbosa SD, Butler-Browne GS.

Acta Physiol Scand. 2005 May;184(1):3-15. Review.


Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle.

Torrente Y, Belicchi M, Sampaolesi M, Pisati F, Meregalli M, D'Antona G, Tonlorenzi R, Porretti L, Gavina M, Mamchaoui K, Pellegrino MA, Furling D, Mouly V, Butler-Browne GS, Bottinelli R, Cossu G, Bresolin N.

J Clin Invest. 2004 Jul;114(2):182-95.


Telomerase can extend the proliferative capacity of human myoblasts, but does not lead to their immortalization.

Di Donna S, Mamchaoui K, Cooper RN, Seigneurin-Venin S, Tremblay J, Butler-Browne GS, Mouly V.

Mol Cancer Res. 2003 Jul;1(9):643-53.


Glucose transporter gene expression in freshly isolated and cultured rat pneumocytes.

Mamchaoui K, Makhloufi Y, Saumon G.

Acta Physiol Scand. 2002 May;175(1):19-24.


A method for measuring the oxygen consumption of intact cell monolayers.

Mamchaoui K, Saumon G.

Am J Physiol Lung Cell Mol Physiol. 2000 Apr;278(4):L858-63.

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