A. Muchir

发表

E. Arbustini, P. Elliott, J. Moon, 2017, Heart.

Combined Treatment with Peptide-Conjugated Phosphorodiamidate Morpholino Oligomer-PPMO and AAV-U7 Rescues the Severe DMD Phenotype in Mice

M. Wood, N. Mougenot, A. Muchir, 2020, Molecular therapy. Methods & clinical development.

ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene.

S. Homma, F. Sera, Wei Wu, 2016, Human molecular genetics.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

P. Bauer, A. Rötig, H. Kayserili, 2020, Nature Communications.

An Omics View of Emery–Dreifuss Muscular Dystrophy

N. Vignier, A. Muchir, 2020, Journal of personalized medicine.

The 13C hyperpolarized pyruvate generated by ParaHydrogen detects the response of the heart to altered metabolism in real time

S. Aime, E. Cavallari, G. Bonne, 2018, Scientific Reports.

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

Wei Wu, H. Worman, Y. J. Kim, 2013, Skeletal Muscle.

Nuclear envelope and striated muscle diseases.

G. Bonne, A. Muchir, M. Chatzifrangkeskou, 2015, Current opinion in cell biology.

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine

Jonathan T. Lu, H. Worman, P. Nagy, 2011, Disease Models & Mechanisms.

Signaling defects and the nuclear envelope in progeria.

H. Worman, A. Muchir, 2010, Developmental cell.

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

B. Eymard, H. Bécane, D. Duboc, 2000, Pacing and clinical electrophysiology : PACE.

Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation.

S. Homma, Wei Wu, H. Worman, 2012, Human molecular genetics.

Mitogen-activated protein kinase kinase 1/2 inhibition and angiotensin II converting inhibition in mice with cardiomyopathy caused by lamin A/C gene mutation.

S. Homma, F. Sera, Wei Wu, 2014, Biochemical and biophysical research communications.

Activation of sarcolipin expression and altered calcium cycling in LMNA cardiomyopathy

A. Dominguez-Rodriguez, G. Bonne, N. Mougenot, 2020, Biochemistry and biophysics reports.

Decreased WNT/&bgr;-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene

S. Homma, F. Sera, H. Worman, 2017, Human molecular genetics.

Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation

K. Wahbi, G. Bonne, N. Vignier, 2018, Human molecular genetics.

The nuclear envelope and human disease.

Howard J Worman, H. Worman, A. Muchir, 2004, Physiology.

Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene.

Wei Wu, H. Worman, G. Bonne, 2010, Biochimica et biophysica acta.

Emery-Dreifuss muscular dystrophy

H. Worman, A. Muchir, Howard J. Worman, 2007, Current neurology and neuroscience reports.

Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy.

P. Pavlidis, Y. Hayashi, H. Worman, 2007, Human molecular genetics.

Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins.

H. Worman, B. V. van Engelen, G. Bonne, 2006, Biochemical and biophysical research communications.

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

I. Desguerre, T. Arimura, H. Worman, 2004, Muscle & nerve.

Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

E. Mercuri, K. Bushby, F. Muntoni, 2000, Annals of neurology.

Peroxisome proliferator-activated receptor-gamma C190S mutation causes partial lipodystrophy.

Wei Wu, H. Worman, H. Schmidt, 2007, The Journal of clinical endocrinology and metabolism.

Microtubule cytoskeleton regulates connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene.

A. Schmitt, G. Bonne, M. Gotthardt, 2018, Human molecular genetics.

Clinical features and therapeutic strategies for managing the striated muscle laminopathies

K. Wahbi, G. Bonne, A. Muchir, 2016 .

Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene.

S. Homma, Wei Wu, H. Worman, 2012, Cardiovascular research.

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

B. V. van Engelen, G. Bonne, C. Hutchison, 2005, Neurology.

Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

W. H. Goldmann, W. Goldmann, P. Knaus, 2018, Human molecular genetics.

Cardiomyocyte-Specific Expression of Lamin A Improves Cardiac Function in Lmna −/− Mice

Richard L. Frock, B. Kennedy, P. Rabinovitch, 2012, PloS one.

Emery-Dreifuss muscular dystrophy: focal point nuclear envelope.

H. Worman, A. Muchir, 2019, Current opinion in neurology.

‘State-of-the-heart’ of cardiac laminopathies

G. Bonne, A. Muchir, M. Cattin, 2013, Current opinion in cardiology.

Multitissular involvement in a family with LMNA and EMD mutations

A. Toutain, F. Leturcq, D. Babuty, 2007, Neurology.

Genome organization in cardiomyocytes expressing mutated A-type lamins

A. Meli, A. Muchir, M. Kervella, 2022, Frontiers in Cell and Developmental Biology.

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes

G. Boriani, L. Santoro, G. Siciliano, 2018, Nucleus.

N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene

S. Varnous, V. Decostre, F. Pecker, 2018, Human molecular genetics.

Dietary Saturated Fat Promotes Arrhythmia by Activating NOX2 (NADPH Oxidase 2).

S. Homma, S. Reiken, A. Marks, 2019, Circulation. Arrhythmia and electrophysiology.

Cardiomyopathy Caused by Mutations in Nuclear A-Type Lamin Gene

G. Bonne, A. Muchir, 2017 .

Genetics of Diseases of the Nuclear Envelope

A. Muchir, 2013 .

Genetics of laminopathies.

T. Arimura, P. Richard, G. Bonne, 2005, Novartis Foundation symposium.

The Pathogenesis and Therapies of Striated Muscle Laminopathies

G. Bonne, A. Muchir, A. Brull, 2018, Front. Physiol..

Striated muscle laminopathies.

G. Bonne, N. Vignier, A. Muchir, 2014, Seminars in cell & developmental biology.

Hutchinson-Gilford Progeria Syndrome: Rejuvenating old drugs to fight accelerated ageing.

X. Nissan, N. Lévy, A. Muchir, 2020, Methods.

Cardioprotective effects of α‐cardiac actin on oxidative stress in a dilated cardiomyopathy mouse model

J. Decaux, N. Mougenot, Zhenlin Li, 2019, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Peroxisome Proliferator-Activated Receptor-γ C190S Mutation Causes Partial Lipodystrophy

Wei Wu, S. Zinn-Justin, H. Worman, 2007 .

Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation.

S. Homma, Wei Wu, H. Worman, 2014, Human molecular genetics.

Activation of skeletal muscle–resident glial cells upon nerve injury

G. Borsellino, M. De Bardi, M. Bouché, 2021, JCI insight.

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

F. Baas, K. Schwartz, G. Bonne, 2000, Human molecular genetics.

Extracellular signal-Regulated Kinases 1/2 and their role in cardiac diseases

A. Muchir, M. Chatzifrangkeskou, 2014 .

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.

Paul Pavlidis, Howard J Worman, Gisèle Bonne, 2007, The Journal of clinical investigation.

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

G. Scarano, B. Dallapiccola, G. Novelli, 2002, American journal of human genetics.

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.

K. Schwartz, E. McNally, G. Bonne, 2003, Experimental cell research.

Laminopathies and the long strange trip from basic cell biology to therapy.

S. Young, H. Worman, L. Fong, 2009, The Journal of clinical investigation.

Mitogen-Activated Protein Kinase Inhibitors Improve Heart Function and Prevent Fibrosis in Cardiomyopathy Caused by Mutation in Lamin A/C Gene

Wei Wu, H. Worman, G. Bonne, 2011, Circulation.

Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.

S. Lehnart, H. Worman, G. Bonne, 2008, Human molecular genetics.

Temsirolimus Activates Autophagy and Ameliorates Cardiomyopathy Caused by Lamin A/C Gene Mutation

S. Homma, Wei Wu, H. Worman, 2012, Science Translational Medicine.

The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies

Wei Wu, H. Worman, A. Schmitt, 2021, Cell reports.

MEK1/2 Inhibitors to Treat Dilated Cardiomyopathy Caused by LMNA Mutations

A. Muchir, 2012 .

Mitogen-activated protein kinase inhibitor regulation of heart function and fibrosis in cardiomyopathy caused by lamin A/C gene mutation.

Wei Wu, H. Worman, A. Muchir, 2010, Trends in cardiovascular medicine.

Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations

P. Taimen, J. Hulot, M. Magiera, 2022, Nature communications.

Dual Specificity Phosphatase 4 Mediates Cardiomyopathy Caused by Lamin A/C (LMNA) Gene Mutation*

S. Homma, Wei Wu, H. Worman, 2012, The Journal of Biological Chemistry.

Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation.

S. Homma, F. Sera, Wei Wu, 2017, Bioorganic & medicinal chemistry.

Targeting Mitogen-Activated Protein Kinase Signaling in Mouse Models of Cardiomyopathy Caused by Lamin A/C Gene Mutations.

H. Worman, A. Muchir, 2016, Methods in enzymology.

Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells.

Wei Wu, H. Worman, A. Muchir, 2009, Biochimica et biophysica acta.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

R. Porcher, É. Marijon, A. Lazarus, 2019, Circulation.

Need for NAD+: Focus on Striated Muscle Laminopathies

A. Muchir, Déborah Cardoso, 2020, Cells.

Bioengineering a miniaturized in vitro 3D myotube contraction monitoring chip to model muscular dystrophies.

B. Ladoux, A. Bigot, Léa Trichet, 2022, Biomaterials.

Bioengineering a Miniaturized In Vitro 3D Myotube Contraction Monitoring Chip For Modelization of Muscular Dystrophies

B. Ladoux, A. Bigot, Léa Trichet, 2021 .

Mutated lamin A modulates stiffness in muscle cells.

W. Goldmann, A. Muchir, M. Chatzifrangkeskou, 2020, Biochemical and biophysical research communications.

Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy

G. Bonne, N. Vignier, N. Mougenot, 2019, Biochemistry and biophysics reports.

Caused by Lamin A / C Gene Mutation Temsirolimus Activates Autophagy and Ameliorates Cardiomyopathy

S. Homma, Wei Wu, H. Worman, 2012 .

Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation.

S. Reiken, A. Marks, Wei Wu, 2020, Human molecular genetics.

Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation.

N. Vignier, N. Mougenot, A. Muchir, 2019, Human molecular genetics.

Overexpression of heart-specific small subunit of myosin light chain phosphatase results in heart failure and conduction disturbance.

T. Arimura, A. Kimura, M. Kuwahara, 2018, American journal of physiology. Heart and circulatory physiology.

Correction: Cardiomyocyte-Specific Expression of Lamin A Improves Cardiac Function in Lmna −/− Mice

Richard L. Frock, B. Kennedy, P. Rabinovitch, 2012, PLoS ONE.