Associated Papers
An evolutionarily conserved role for separase in the regulation of nuclear lamins.
Cipressa F et al.
Cell Death Discovery, 2025
Clinical and Genetic Landscape of Children With Congenital Muscular Dystrophies From North India.
Basu A et al.
Journal of Child Neurology, 2025
Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.
Zielińska A et al.
Cells, 2025
Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.
Li W et al.
Stroke and Vascular Neurology, 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
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
Pande S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental 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
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.
Ghosh DK et al.
Aging Cell, 2022
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
Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.
Baban A et al.
Frontiers in Pediatrics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Cellular and Animal Models of Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
E3 ubiquitin ligase HECW2 mediates the proteasomal degradation of HP1 isoforms.
Krishnamoorthy V et al.
Biochemical and Biophysical Research Communications, 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
Invertebrate models of lamin diseases.
Rzepecki R et al.
Nucleus (austin, Tex.), 2018
The effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cells.
Piekarowicz K et al.
Chromosoma, 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
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
Normal and aberrant splicing of LMNA.
Luo YB et al.
Journal of Medical Genetics, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome 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
Cardioembolic stroke related to limb-girdle muscular dystrophy 1B.
Chen CH et al.
Bmc Research Notes, 2013
Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.
Yang L et al.
Plos One, 2013
Lamin misexpression upregulates three distinct ubiquitin ligase systems that degrade ATR kinase in HeLa cells.
Muralikrishna B et al.
Molecular and Cellular Biochemistry, 2012
Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo.
Boudreau É et al.
Plos One, 2012
Ubiquitin ligase RNF123 mediates degradation of heterochromatin protein 1α and β in lamin A/C knock-down cells.
Chaturvedi P et al.
Plos One, 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
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
Cowan J et al.
Circulation. Cardiovascular Genetics, 2010
Role of A-type lamins in signaling, transcription, and chromatin organization.
Andrés V et al.
The Journal of Cell Biology, 2009
A comparative study of Drosophila and human A-type lamins.
Schulze SR et al.
Plos One, 2009
Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.
Lassuthová P et al.
Pediatric Neurology, 2009
LMNA mRNA expression is altered in human obesity and type 2 diabetes.
Miranda M et al.
Obesity (silver Spring, Md.), 2008
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
Laminopathies: multiple disorders arising from defects in nuclear architecture.
Parnaik VK et al.
Journal of Biosciences, 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
Laminopathy-inducing lamin A mutants can induce redistribution of lamin binding proteins into nuclear aggregates.
Hübner S et al.
Experimental Cell Research, 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
Molecular genetic analysis of the nested Drosophila melanogaster lamin C gene.
Schulze SR et al.
Genetics, 2005
Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization.
Broers JL et al.
Experimental Cell Research, 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
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
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
Boriani G et al.
Stroke, 2003