List of works - Antoine Muchir

'State-of-the-heart' of cardiac laminopathies.

scientific article published on May 2013

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 July 2019

An Omics View of Emery-Dreifuss Muscular Dystrophy

scientific article published on 15 June 2020

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

scientific article published on 19 October 2020

Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice

scientific article (publication date: 2012)

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

article

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

scientific article

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

scientific article published on 17 September 2012

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

scientific article published on 9 January 2017

Dual specificity phosphatase 4 mediates cardiomyopathy caused by lamin A/C (LMNA) gene mutation

scientific article

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

scientific article published on 30 April 2016

Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)

scientific article published on 01 April 2000

Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiation and fibrogenic processes.

scientific article

Emery-Dreifuss muscular dystrophy

scientific article published on 01 January 2007

Genetics of laminopathies.

scientific article

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

article

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

scientific article (publication date: 22 May 2000)

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

scientific article published on 16 October 2008

Investigation of pathomechanisms of ventricular arrhythmias in cardiac laminopathies.

scientific article published on 11 November 2015

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine.

scientific article

Lamin and the heart

scientific article published on 25 November 2017

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

scientific article published on 11 September 2020

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

scientific article published on 9 December 2016

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

scientific article

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

article

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

scientific article published on December 20, 2010

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

scientific article published on October 2010

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

scientific article

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

scientific article published on 01 May 2007

Need for NAD+: Focus on Striated Muscle Laminopathies

scientific article published on 07 October 2020

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

scientific article published in December 2003

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

article

Nuclear envelope and striated muscle diseases

scientific article published on 04 October 2014

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

scientific article published on 16 February 2018

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

scientific article published on 3 November 2006

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

scientific article

Signaling defects and the nuclear envelope in progeria

scientific article published on 01 September 2010

Striated muscle laminopathies.

scientific article published on 15 January 2014

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

scientific article published on 24 October 2015

Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation

scientific article published on July 2012

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

scientific article

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

article

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

scientific article published on 8 November 2011

List of works by Antoine Muchir

'State-of-the-heart' of cardiac laminopathies.

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

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

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

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

An Omics View of Emery-Dreifuss Muscular Dystrophy

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

Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice

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

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

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

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

Dual specificity phosphatase 4 mediates cardiomyopathy caused by lamin A/C (LMNA) gene mutation

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

Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)

Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiation and fibrogenic processes.

Emery-Dreifuss muscular dystrophy

Genetics of laminopathies.

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

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

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

Investigation of pathomechanisms of ventricular arrhythmias in cardiac laminopathies.

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine.

Lamin and the heart

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

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

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

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

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

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

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

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Need for NAD+: Focus on Striated Muscle Laminopathies

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

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

Nuclear envelope and striated muscle diseases

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

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

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

Signaling defects and the nuclear envelope in progeria

Striated muscle laminopathies.

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

Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation

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

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

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