Lamin and the heart

G Captur, E Arbustini, G Bonne, P Syrris, K Mills… - Heart, 2018 - heart.bmj.com
Lamins A and C are intermediate filament nuclear envelope proteins encoded by the LMNA
gene. Mutations in LMNA cause autosomal dominant severe heart disease, accounting for …

[HTML][HTML] Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond

A Kimura - Journal of human genetics, 2010 - nature.com
Cardiomyopathy is caused by functional abnormality of cardiac muscle. The functional
abnormality involved in its etiology includes both extrinsic and intrinsic factors, and …

Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene

W Wu, A Muchir, J Shan, G Bonne, HJ Worman - Circulation, 2011 - Am Heart Assoc
Background—Mutations in the lamin A/C gene, LMNA, can cause dilated cardiomyopathy.
We have shown abnormal activation of the extracellular signal-regulated kinase (ERK) and …

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

A Muchir, SA Reilly, W Wu, S Iwata… - Cardiovascular …, 2012 - academic.oup.com
Aims Mutations in A-type nuclear lamins gene, LMNA, lead to a dilated cardiomyopathy. We
have reported abnormal activation of the extracellular signal-regulated kinase1/2 (ERK1/2) …

[HTML][HTML] The pathogenesis and therapies of striated muscle laminopathies

A Brull, B Morales Rodriguez, G Bonne… - Frontiers in …, 2018 - frontiersin.org
Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition characterized by early
contractures, skeletal muscle weakness, and cardiomyopathy. During the last 20 years …

[HTML][HTML] Role of lamin A/C gene mutations in the signaling defects leading to cardiomyopathies

A Gerbino, G Procino, M Svelto… - Frontiers in Physiology, 2018 - frontiersin.org
Nuclear lamin A/C are crucial components of the intricate protein mesh that underlies the
inner nuclear membrane and confers mainly nuclear and cytosolic rigidity. However …

Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations

T Arimura, K Onoue, Y Takahashi-Tanaka… - Cardiovascular …, 2013 - academic.oup.com
Aims Dilated cardiomyopathy (DCM) is characterized by ventricular dilation associated with
systolic dysfunction, which could be caused by mutations in lamina/C gene (LMNA). LMNA …

Contribution of Genetic Factors to the Pathogenesis of Dilated Cardiomyopathy–The Cause of Dilated Cardiomyopathy: Genetic or Acquired?(Genetic-Side)–

A Kimura - Circulation Journal, 2011 - jstage.jst.go.jp
1757 (Genetic) Genetic Factors in DCM contrast, the genetic factor is composed of multiple
diseaseassociated gene polymorphisms in the multifactorial disease. In general, the …

[HTML][HTML] What should the cardiologist know about Lamin disease?

P Charron, E Arbustini, G Bonne - Arrhythmia & Electrophysiology …, 2012 - ncbi.nlm.nih.gov
Lamins are intermediate filament proteins able to polymerise and form an organised
meshwork underlying the inner nuclear membrane in most differentiated somatic cells …

Striated muscle laminopathies

F Azibani, A Muchir, N Vignier, G Bonne… - Seminars in cell & …, 2014 - Elsevier
Lamins A and C, encoded by LMNA, are constituent of the nuclear lamina, a meshwork of
proteins underneath the nuclear envelope first described as scaffolding proteins of the …