Current insights into LMNA cardiomyopathies: Existing models and missing LINCs

Prelamin A impairs 53BP1 nuclear entry by mislocalizing NUP153 and disrupting the Ran gradient

(2016) Andrew M. Cobb et al.   AGING CELL

A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy

(2016) Xiaoxiao Guo et al.   CANADIAN JOURNAL OF CARDIOLOGY

Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria SyndromeClinical Perspective

(2016) Leslie B. Gordon et al.   CIRCULATION

The formation and function of the cardiac conduction system

(2016) Jan Hendrik van Weerd et al.   DEVELOPMENT

Impaired mechanical response of an EDMD mutation leads to motility phenotypes that are repaired by loss of prenylation

(2016) Noam Zuela et al.   JOURNAL OF CELL SCIENCE

Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy

(2016) Gun West et al.   JOURNAL OF CELL SCIENCE

Modulation of LMNA splicing as a strategy to treat prelamin A diseases

(2016) John M. Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse

(2016) Marie-Elodie Cattin et al.   NEUROMUSCULAR DISORDERS

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

(2016) Damien Galant et al.   Cells

Modeling of lamin A/C mutation premature cardiac aging using patient-specific induced pluripotent stem cells

(2016) Chung-Wah Siu et al.   Aging-US

Metabolic and cardiac phenotype characterization in 37 atypical Dunnigan patients with nonfarnesylated mutated prelamin A

(2015) Philippe Andre et al.   AMERICAN HEART JOURNAL

Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies

(2015) J Scharner et al.   GENE THERAPY

LMNAMutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging

(2015) Tero-Pekka Alastalo et al.   HUMAN 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

(2014) Antoine Muchir et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Lamin A/C mutations in dilated cardiomyopathy

(2014) Frédérique Tesson et al.   Cardiology Journal

Chemical Inhibition of NAT10 Corrects Defects of Laminopathic Cells

(2014) D. Larrieu et al.   SCIENCE

LINC complexes in health and disease

(2014) Alexandre Méjat   Nucleus

The Good, the Bad, and the Ugly with Alcohol Use and Abuse on the Heart

(2013) Robin K. Walker et al.   ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH

Structural Alterations of Lamin A Protein in Dilated Cardiomyopathy

(2013) Pritha Bhattacharjee et al.   BIOCHEMISTRY

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

(2013) Marie-Elodie Cattin et al.   CURRENT OPINION IN CARDIOLOGY

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling

(2013) Monika Zwerger et al.   HUMAN MOLECULAR GENETICS

Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity

(2013) Marie-Elodie Cattin et al.   HUMAN MOLECULAR GENETICS

Temporal Relationship of Conduction System Disease and Ventricular Dysfunction in LMNA Cardiomyopathy

(2013) Chad Brodt et al.   JOURNAL OF CARDIAC FAILURE

Viscoelastic Behavior of Human Lamin A Proteins in the Context of Dilated Cardiomyopathy

(2013) Avinanda Banerjee et al.   PLoS One

Targeting Isoprenylcysteine Methylation Ameliorates Disease in a Mouse Model of Progeria

(2013) M. X. Ibrahim et al.   SCIENCE

Phosphorylation of connexin43 on S279/282 may contribute to laminopathy-associated conduction defects

(2012) Steven C. Chen et al.   EXPERIMENTAL CELL RESEARCH

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

(2012) Richard L. Frock et al.   PLoS One

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

(2012) L. B. Gordon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2012) J. C. Choi et al.   Science Translational Medicine

Rapamycin Reverses Elevated mTORC1 Signaling in Lamin A/C-Deficient Mice, Rescues Cardiac and Skeletal Muscle Function, and Extends Survival

(2012) F. J. Ramos et al.   Science Translational Medicine

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

(2011) A. Muchir et al.   CARDIOVASCULAR RESEARCH

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine

(2011) J. T. Lu et al.   Disease Models & Mechanisms

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

(2011) Giovanni Quarta et al.   EUROPEAN HEART JOURNAL

Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy

(2011) M.K. Larsen et al.   FORENSIC SCIENCE INTERNATIONAL

Viral myocarditis: potential defense mechanisms within the cardiomyocyte against virus infection

(2011) Toshitaka Yajima   Future Microbiology

Mechanisms of Premature Vascular Aging in Children With Hutchinson-Gilford Progeria Syndrome

(2011) Marie Gerhard-Herman et al.   HYPERTENSION

Inherited Cardiomyopathies

(2011) Hugh Watkins et al.   NEW ENGLAND JOURNAL OF MEDICINE

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

(2011) F. G. Osorio et al.   Science Translational Medicine

Arrhythmogenic Cardiomyopathy: Etiology, Diagnosis, and Treatment

(2010) Srijita Sen-Chowdhry et al.   Annual Review of Medicine

Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging

(2010) Michelle Olive et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

(2010) Wei Wu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Prelamin A Acts to Accelerate Smooth Muscle Cell Senescence and Is a Novel Biomarker of Human Vascular Aging

(2010) Cassandra D. Ragnauth et al.   CIRCULATION

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

(2010) Wei Wu et al.   CIRCULATION

An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria

(2010) B. S. J. Davies et al.   HUMAN MOLECULAR GENETICS

Identification of a lamin A/C gene mutation in a Taiwanese family with limb girdle muscular dystrophy and cardiomyopathy

(2010) Shu-Hsuan Chang et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Increased myofilament Ca2+-sensitivity and arrhythmia susceptibility

(2010) Sabine Huke et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Nesprin-1 and actin contribute to nuclear and cytoskeletal defects in lamin A/C-deficient cardiomyopathy

(2010) Vesna Nikolova-Krstevski et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

LMNA E82K Mutation Activates FAS and Mitochondrial Pathways of Apoptosis in Heart Tissue Specific Transgenic Mice

(2010) Dan Lu et al.   PLoS One

Lamin-binding Proteins

(2010) K. L. Wilson et al.   Cold Spring Harbor Perspectives in Biology

Viral Myocarditis

(2009) Toshitaka Yajima et al.   CIRCULATION

Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

(2009) Sabine J. van Dijk et al.   CIRCULATION

Autoimmune Mechanisms Underlying Dilated Cardiomyopathy

(2009) Tsutomu Yoshikawa et al.   CIRCULATION JOURNAL

Evidence From Human Myectomy Samples That MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency

(2009) Steven Marston et al.   CIRCULATION RESEARCH

Effects of Mechanical Stress and Carvedilol in Lamin A/C–Deficient Dilated Cardiomyopathy

(2009) Suchitra Chandar et al.   CIRCULATION RESEARCH

The utility of magnetic resonance imaging in the evaluation of arrhythmogenic right ventricular cardiomyopathy

(2009) Srijita Sen-Chowdhry et al.   CURRENT OPINION IN CARDIOLOGY

Attenuated hypertrophic response to pressure overload in a lamin A/C haploinsufficiency mouse

(2009) Mihaela Cupesi et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

A Cardio-Neurological Form of Laminopathy: Dilated Cardiomyopathy with Permanent Partial Atrial Standstill and Axonal Neuropathy

(2009) ALEXANDRE DUPARC et al.   PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

(2008) Sharie B. Parks et al.   AMERICAN HEART JOURNAL

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

(2008) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novoLMNAmutations cause a new form of congenital muscular dystrophy

(2008) Susana Quijano-Roy et al.   ANNALS OF NEUROLOGY

A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

(2008) David Araújo-Vilar et al.   CLINICAL ENDOCRINOLOGY

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

(2008) A. Muchir et al.   HUMAN MOLECULAR GENETICS

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

(2008) Michele Pasotti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mechanotransduction gone awry

(2008) Diana E. Jaalouk et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A

(2007) Yiyong Liu et al.   FASEB JOURNAL

Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease

(2007) Cordula M. Wolf et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY