Associated Papers
Lamin Filament Assembly Derived from the Atomic Structure of the Antiparallel Four-Helix Bundle.
Ahn J et al.
Molecules and Cells, 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
Targeted Regulation of Nuclear Lamins by Ubiquitin and Ubiquitin-Like Modifiers.
Blank M
Cells, 2020
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
Genomic instability and innate immune responses to self-DNA in progeria.
Gonzalo S et al.
Geroscience, 2019
E3 ubiquitin ligase HECW2 mediates the proteasomal degradation of HP1 isoforms.
Krishnamoorthy V et al.
Biochemical and Biophysical Research Communications, 2018
E3 ubiquitin ligase HECW2 targets PCNA and lamin B1.
Krishnamoorthy V et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins.
Khanna R et al.
The Febs Journal, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
Heart-specific expression of laminopathic mutations in transgenic zebrafish.
Verma AD et al.
Cell Biology International, 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
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies.
Scharner J et al.
Gene Therapy, 2015
Lamin misexpression upregulates three distinct ubiquitin ligase systems that degrade ATR kinase in HeLa cells.
Muralikrishna B et al.
Molecular and Cellular Biochemistry, 2012
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Scharner J et al.
Human Mutation, 2011
Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10.
Chaturvedi P et al.
Plos One, 2010
Role of A-type lamins in signaling, transcription, and chromatin organization.
Andrés V et al.
The Journal of Cell Biology, 2009
Phosphorylation-dependent binding of human transcription factor MOK2 to lamin A/C.
Harper M et al.
The Febs Journal, 2009
Mislocalization of human transcription factor MOK2 in the presence of pathogenic mutations of lamin A/C.
Dreuillet C et al.
Biology of the Cell, 2008
Nuclear envelope defects in muscular dystrophy.
Roux KJ et al.
Biochimica Et Biophysica Acta, 2007
Laminopathies: multiple disorders arising from defects in nuclear architecture.
Parnaik VK et al.
Journal of Biosciences, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
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
Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene.
Otomo J et al.
Journal of Cardiovascular Electrophysiology, 2005
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
Taylor MR et al.
Journal of the American College of Cardiology, 2003
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
Vytopil M et al.
Neuromuscular Disorders : Nmd, 2002
[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].
Hanisch F et al.
Der Nervenarzt, 2002
Life at the edge: the nuclear envelope and human disease.
Burke B et al.
Nature Reviews. Molecular Cell Biology, 2002
Structure of the globular tail of nuclear lamin.
Dhe-Paganon S et al.
The Journal of Biological Chemistry, 2002
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
Arbustini E et al.
Journal of the American College of Cardiology, 2002
Emery-Dreifuss muscular dystrophy.
Helbling-Leclerc A et al.
European Journal of Human Genetics : Ejhg, 2002
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
Brown CA et al.
American Journal of Medical Genetics, 2001
Mutations in the LMNA gene encoding lamin A/C.
Genschel J et al.
Human Mutation, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G et al.
Annals of Neurology, 2000