Antoine Muchir, Ph.D. - Publications

Affiliations: 
Institut de Myologie 

54 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Dridi H, Wu W, Reiken SR, Ofer RM, Liu Y, Yuan Q, Sittenfeld L, Kushner J, Muchir A, Worman HJ, Marks AR. Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation. Human Molecular Genetics. PMID 33388782 DOI: 10.1093/hmg/ddaa278  1
2020 Morales Rodriguez B, Domínguez-Rodríguez A, Benitah JP, Lefebvre F, Marais T, Mougenot N, Beauverger P, Bonne G, Briand V, Gómez AM, Muchir A. Activation of sarcolipin expression and altered calcium cycling in cardiomyopathy. Biochemistry and Biophysics Reports. 22: 100767. PMID 32490213 DOI: 10.1016/J.Bbrep.2020.100767  0.52
2019 Joseph LC, Avula UMR, Wan EY, Reyes MV, Lakkadi KR, Subramanyam P, Nakanishi K, Homma S, Muchir A, Pajvani UB, Thorp EB, Reiken SR, Marks AR, Colecraft HM, Morrow JP. Dietary Saturated Fat Promotes Arrhythmia by Activating NOX2 (NADPH Oxidase 2). Circulation. Arrhythmia and Electrophysiology. 12: e007573. PMID 31665913 DOI: 10.1161/Circep.119.007573  0.52
2019 Muchir A, Worman HJ. Emery-Dreifuss muscular dystrophy: focal point nuclear envelope. Current Opinion in Neurology. 32: 728-734. PMID 31460960 DOI: 10.1097/Wco.0000000000000741  1
2019 Vignier N, Mougenot N, Bonne G, Muchir A. Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy. Biochemistry and Biophysics Reports. 19: 100664. PMID 31341969 DOI: 10.1016/J.Bbrep.2019.100664  0.52
2019 Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, ... ... Muchir A, et al. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies. Circulation. PMID 31155932 DOI: 10.1161/Circulationaha.118.039410  0.52
2018 Brull A, Morales Rodriguez B, Bonne G, Muchir A, Bertrand AT. The Pathogenesis and Therapies of Striated Muscle Laminopathies. Frontiers in Physiology. 9: 1533. PMID 30425656 DOI: 10.3389/Fphys.2018.01533  0.52
2018 Vignier N, Chatzifrangkeskou M, Rodriguez BM, Mericskay M, Mougenot N, Bonne G, Muchir A. Rescue of biosynthesis of nicotinamide adenine dinucleotide (NAD+) protects the heart in cardiomyopathy caused by lamin A/C gene mutation. Human Molecular Genetics. PMID 30053027 DOI: 10.1093/hmg/ddy278  0.52
2018 Rodriguez BM, Khouzami L, Decostre V, Varnous S, Pekovic-Vaughan V, Hutchison CJ, Pecker F, Bonne G, Muchir A. N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene. Human Molecular Genetics. PMID 29982513 DOI: 10.1093/hmg/ddy243  0.52
2018 Macquart C, Jüttner 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. Human Molecular Genetics. PMID 29893868 DOI: 10.1093/Hmg/Ddy227  0.52
2018 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, Pucéat M, Morales Rodriguez B, Goldmann WH, ... ... Muchir A, et al. Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation. Human Molecular Genetics. PMID 29878125 DOI: 10.1093/Hmg/Ddy215  1
2018 Cavallari E, Carrera C, Sorge M, Bonne G, Muchir A, Aime S, Reineri F. The C hyperpolarized pyruvate generated by ParaHydrogen detects the response of the heart to altered metabolism in real time. Scientific Reports. 8: 8366. PMID 29849091 DOI: 10.1038/S41598-018-26583-2  0.52
2018 Bernasconi P, Carboni N, Ricci G, Siciliano G, Politano L, Maggi L, Mongini T, Vercelli L, Rodolico C, Biagini E, Boriani G, Ruggiero L, Santoro L, Schena E, Prencipe S, ... ... Muchir A, et al. Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiation and fibrogenic processes. Nucleus (Austin, Tex.). 1-24. PMID 29693488 DOI: 10.1080/19491034.2018.1467722  0.52
2017 Captur G, Arbustini E, Bonne G, Syrris P, Mills K, Wahbi K, Mohiddin SA, McKenna WJ, Pettit S, Ho CY, Muchir A, Gissen P, Elliott PM, Moon JC. Lamin and the heart. Heart (British Cardiac Society). PMID 29175975 DOI: 10.1136/Heartjnl-2017-312338  0.52
2017 Le Dour C, Macquart C, Sera F, Homma S, Bonne G, Morrow JP, Worman HJ, Muchir A. Decreased WNT/β-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene. Human Molecular Genetics. PMID 28069793 DOI: 10.1093/Hmg/Ddw389  1
2016 Wu W, Chordia MD, Hart BP, Kumarasinghe ES, Ji MK, Bhargava A, Lawlor MW, Shin JY, Sera F, Homma S, Muchir A, Khire UR, Worman HJ. Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation. Bioorganic & Medicinal Chemistry. PMID 28011205 DOI: 10.1016/J.Bmc.2016.12.014  1
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. Human Molecular Genetics. PMID 27131347 DOI: 10.1093/Hmg/Ddw090  1
2016 Muchir A, Worman HJ. Targeting Mitogen-Activated Protein Kinase Signaling in Mouse Models of Cardiomyopathy Caused by Lamin A/C Gene Mutations. Methods in Enzymology. 568: 557-80. PMID 26795484 DOI: 10.1016/Bs.Mie.2015.07.028  1
2015 Chatzifrangkeskou M, Bonne G, Muchir A. Nuclear envelope and striated muscle diseases. Current Opinion in Cell Biology. 32: 1-6. PMID 25290386 DOI: 10.1016/J.Ceb.2014.09.007  1
2014 Muchir A, Wu W, Sera F, Homma S, Worman HJ. Mitogen-activated protein kinase kinase 1/2 inhibition and angiotensin II converting inhibition in mice with cardiomyopathy caused by lamin A/C gene mutation. Biochemical and Biophysical Research Communications. 452: 958-61. PMID 25218145 DOI: 10.1016/J.Bbrc.2014.09.020  1
2014 Azibani F, Muchir A, Vignier N, Bonne G, Bertrand AT. Striated muscle laminopathies. Seminars in Cell & Developmental Biology. 29: 107-15. PMID 24440603 DOI: 10.1016/J.Semcdb.2014.01.001  1
2014 Wu W, Iwata S, Homma S, Worman HJ, Muchir A. Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation. Human Molecular Genetics. 23: 1-11. PMID 23933734 DOI: 10.1093/Hmg/Ddt387  1
2013 Muchir A, Kim YJ, Reilly SA, Wu W, Choi JC, Worman HJ. Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation. Skeletal Muscle. 3: 17. PMID 23815988 DOI: 10.1186/2044-5040-3-17  1
2013 Cattin ME, Muchir A, Bonne G. 'State-of-the-heart' of cardiac laminopathies. Current Opinion in Cardiology. 28: 297-304. PMID 23455585 DOI: 10.1097/Hco.0B013E32835F0C79  1
2012 Choi JC, Wu W, Muchir A, Iwata S, Homma S, Worman HJ. Dual specificity phosphatase 4 mediates cardiomyopathy caused by lamin A/C (LMNA) gene mutation. The Journal of Biological Chemistry. 287: 40513-24. PMID 23048029 DOI: 10.1074/Jbc.M112.404541  1
2012 Frock RL, Chen SC, Da DF, Frett E, Lau C, Brown C, Pak DN, Wang Y, Muchir A, Worman HJ, Santana LF, Ladiges WC, Rabinovitch PS, Kennedy BK. Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice. Plos One. 7: e42918. PMID 22905185 DOI: 10.1371/Journal.Pone.0042918  1
2012 Choi JC, Muchir A, Wu W, Iwata S, Homma S, Morrow JP, Worman HJ. Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation. Science Translational Medicine. 4: 144ra102. PMID 22837537 DOI: 10.1126/Scitranslmed.3003875  1
2012 Muchir A, Wu W, Choi JC, Iwata S, Morrow J, Homma S, Worman HJ. Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation. Human Molecular Genetics. 21: 4325-33. PMID 22773734 DOI: 10.1093/Hmg/Dds265  1
2012 Muchir A, Reilly SA, Wu W, Iwata S, Homma S, Bonne G, Worman HJ. Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene. Cardiovascular Research. 93: 311-9. PMID 22068161 DOI: 10.1093/Cvr/Cvr301  1
2011 Lu JT, Muchir A, Nagy PL, Worman HJ. LMNA cardiomyopathy: cell biology and genetics meet clinical medicine. Disease Models & Mechanisms. 4: 562-8. PMID 21810905 DOI: 10.1242/Dmm.006346  1
2011 Wu W, Muchir A, Shan J, Bonne G, Worman HJ. Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene. Circulation. 123: 53-61. PMID 21173351 DOI: 10.1161/Circulationaha.110.970673  1
2010 Muchir A, Wu W, Worman HJ. Mitogen-activated protein kinase inhibitor regulation of heart function and fibrosis in cardiomyopathy caused by lamin A/C gene mutation. Trends in Cardiovascular Medicine. 20: 217-21. PMID 22293021 DOI: 10.1016/J.Tcm.2011.11.002  1
2010 Muchir A, Worman HJ. Signaling defects and the nuclear envelope in progeria. Developmental Cell. 19: 355-6. PMID 20833355 DOI: 10.1016/J.Devcel.2010.08.019  1
2010 Wu W, Shan J, Bonne G, Worman HJ, Muchir A. Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene. Biochimica Et Biophysica Acta. 1802: 632-8. PMID 20388542 DOI: 10.1016/J.Bbadis.2010.04.001  1
2009 Worman HJ, Fong LG, Muchir A, Young SG. Laminopathies and the long strange trip from basic cell biology to therapy. The Journal of Clinical Investigation. 119: 1825-36. PMID 19587457 DOI: 10.1172/Jci37679  1
2009 Muchir A, Wu W, Worman HJ. Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells. Biochimica Et Biophysica Acta. 1792: 75-81. PMID 19022376 DOI: 10.1016/J.Bbadis.2008.10.012  1
2009 Muchir A, Shan J, Bonne G, Lehnart SE, Worman HJ. Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins. Human Molecular Genetics. 18: 241-7. PMID 18927124 DOI: 10.1093/Hmg/Ddn343  1
2007 Muchir A, Pavlidis P, Bonne G, Hayashi YK, Worman HJ. Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy. Human Molecular Genetics. 16: 1884-95. PMID 17567779 DOI: 10.1093/Hmg/Ddm137  1
2007 Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, et al. Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? Neurology. 68: 1883-94. PMID 17536044 DOI: 10.1212/01.Wnl.0000263138.57257.6A  1
2007 Muchir A, Pavlidis P, Decostre V, Herron AJ, Arimura T, Bonne G, Worman HJ. Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. The Journal of Clinical Investigation. 117: 1282-93. PMID 17446932 DOI: 10.1172/Jci29042  1
2007 Lüdtke A, Buettner J, Wu W, Muchir A, Schroeter A, Zinn-Justin S, Spuler S, Schmidt HH, Worman HJ. Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy. The Journal of Clinical Endocrinology and Metabolism. 92: 2248-55. PMID 17356052 DOI: 10.1210/Jc.2005-2624  1
2007 Muchir A, Worman HJ. Emery-Dreifuss muscular dystrophy. Current Neurology and Neuroscience Reports. 7: 78-83. PMID 17217858 DOI: 10.1007/S11910-007-0025-3  1
2006 Muchir A, Massart C, van Engelen BG, Lammens M, Bonne G, Worman HJ. Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins. Biochemical and Biophysical Research Communications. 351: 1011-7. PMID 17097067 DOI: 10.1016/J.Bbrc.2006.10.147  1
2005 Ben Yaou R, Muchir A, Arimura T, Massart C, Demay L, Richard P, Bonne G. Genetics of laminopathies. Novartis Foundation Symposium. 264: 81-90; discussion 90. PMID 15773749 DOI: 10.1002/0470093765.Ch7  1
2005 van Engelen BG, Muchir A, Hutchison CJ, van der Kooi AJ, Bonne G, Lammens M. The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. Neurology. 64: 374-6. PMID 15668447 DOI: 10.1212/01.Wnl.0000149763.15180.00  1
2004 Muchir A, Worman HJ. The nuclear envelope and human disease. Physiology (Bethesda, Md.). 19: 309-14. PMID 15381760 DOI: 10.1152/Physiol.00022.2004  1
2004 Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, et al. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle & Nerve. 30: 444-50. PMID 15372542 DOI: 10.1002/Mus.20122  1
2003 Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K, Bonne G. Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Experimental Cell Research. 291: 352-62. PMID 14644157 DOI: 10.1016/J.Yexcr.2003.07.002  1
2002 Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. American Journal of Human Genetics. 71: 426-31. PMID 12075506 DOI: 10.1086/341908  1
2001 Bonne G, Muchir A, Helbling-Leclerc A, Massart C, Schwartz K. Clinical and genetical heterogeneity of laminopathies Acta Myologica. 20: 138-144.  1
2000 Bécane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing and Clinical Electrophysiology : Pace. 23: 1661-6. PMID 11138304 DOI: 10.1046/J.1460-9592.2000.01661.X  1
2000 Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Annals of Neurology. 48: 170-80. PMID 10939567 DOI: 10.1002/1531-8249(200008)48:2<170::Aid-Ana6>3.0.Co;2-J  1
2000 Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Human Molecular Genetics. 9: 1453-9. PMID 10814726  1
2000 Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, Schwartz K, Muntoni F. Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2). Neurology. 54: 1704-5. PMID 10762524  1
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