Associated Papers
LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.
Wang Z et al.
Journal of Advanced Research, 2025
Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies.
Bhide S et al.
Genes, 2024
Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review.
Politano L
International Journal of Molecular Sciences, 2024
Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.
Chatzifrangkeskou M et al.
American Journal of Physiology. Cell Physiology, 2023
Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.
Kim HJ et al.
Frontiers in Cell and Developmental Biology, 2023
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
Lamin A/C Cardiomyopathy: Implications for Treatment.
Chen SN et al.
Current Cardiology Reports, 2019
Cellular and Animal Models of Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2019
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
The Pathogenesis and Therapies of Striated Muscle Laminopathies.
Brull A et al.
Frontiers in Physiology, 2018
Heart-specific expression of laminopathic mutations in transgenic zebrafish.
Verma AD et al.
Cell Biology International, 2017
Current insights into LMNA cardiomyopathies: Existing models and missing LINCs.
Brayson D et al.
Nucleus (austin, Tex.), 2017
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.
Barateau A et al.
Plos One, 2017
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
Genetic Variations Leading to Familial Dilated Cardiomyopathy.
Cho KW et al.
Molecules and Cells, 2016
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
Broken nuclei--lamins, nuclear mechanics, and disease.
Davidson PM et al.
Trends in Cell Biology, 2014
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
Zwerger M et al.
Human Molecular Genetics, 2013
'State-of-the-heart' of cardiac laminopathies.
Cattin ME et al.
Current Opinion in Cardiology, 2013
Phosphorylation of connexin43 on S279/282 may contribute to laminopathy-associated conduction defects.
Chen SC et al.
Experimental Cell Research, 2013
Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation.
Gangemi F et al.
Journal of Structural Biology, 2013
Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.
Yang L et al.
Plos One, 2013
RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.
Liu J et al.
Current Gene Therapy, 2012
Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.
Stallmeyer B et al.
Genetic Testing and Molecular Biomarkers, 2012
Lamins, laminopathies and disease mechanisms: possible role for proteasomal degradation of key regulatory proteins.
Parnaik VK et al.
Journal of Biosciences, 2011
Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.
Boudoulas KD et al.
Acta Pharmacologica Sinica, 2011
LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.
Lu D et al.
Plos One, 2010
Genotype-phenotype correlations in laminopathies: how does fate translate?
Scharner J et al.
Biochemical Society Transactions, 2010
Molecular signatures of Emery-Dreifuss muscular dystrophy.
Wheeler MA et al.
Biochemical Society Transactions, 2008
Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy.
Muchir A et al.
Human Molecular Genetics, 2007
Proteins that associate with lamins: many faces, many functions.
Schirmer EC et al.
Experimental Cell Research, 2007
Nuclear envelope defects in muscular dystrophy.
Roux KJ et al.
Biochimica Et Biophysica Acta, 2007
Emery-Dreifuss muscular dystrophy.
Muchir A et al.
Current Neurology and Neuroscience Reports, 2007
Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy.
Wang Y et al.
Human Molecular Genetics, 2006
Quantitative analysis of localization and nuclear aggregate formation induced by GFP-lamin A mutant proteins in living HeLa cells.
Hübner S et al.
Journal of Cellular Biochemistry, 2006
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition.
Holt I et al.
Neuromuscular Disorders : Nmd, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.
Arocena DG et al.
Human Molecular Genetics, 2005
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
Sylvius N et al.
Journal of Medical Genetics, 2005
Gene symbol: CMD1A. Disease: Dilated cardiomyopathy associated with conduction system disease.
Arbustini EA et al.
Human Genetics, 2005
Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1.
Arbustini Eloisa AE et al.
Human Genetics, 2005
Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins.
Strelkov SV et al.
Journal of Molecular Biology, 2004
Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo.
Holt I et al.
Journal of Cell Science, 2003