Associated Papers
Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.
Zielińska A et al.
Cells, 2025
A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.
Mohar NP et al.
Science Advances, 2025
Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies.
Bhide S et al.
Genes, 2024
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
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins
Slower diffusion and anomalous association of R453W lamin A protein alter nuclear architecture in AD-EDMD.
Mukherjee C et al.
Rsc Advances, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf
Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.
Earle AJ et al.
Nature Materials, 2020
Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling.
Chandran S et al.
Human Molecular Genetics, 2019
Invertebrate models of lamin diseases.
Rzepecki R et al.
Nucleus (austin, Tex.), 2018
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
28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1
Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway.
Dialynas G et al.
Plos Genetics, 2015
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.
Dialynas G et al.
Human Molecular Genetics, 2012
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