Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
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
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
The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies.
Vignier N et al.
Cell Reports, 2021
A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.
Anderson CL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation.
Chatzifrangkeskou M et al.
Human Molecular Genetics, 2018
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
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway.
Dialynas G et al.
Plos Genetics, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
Scharner J et al.
Proteins, 2014
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.
Dialynas G et al.
Human Molecular Genetics, 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
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.
Muchir A et al.
The Journal of Clinical Investigation, 2007
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Life at the edge: the nuclear envelope and human disease.
Burke B et al.
Nature Reviews. Molecular Cell Biology, 2002
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.
Krimm I et al.
Structure (london, England : 1993), 2002
Structure of the globular tail of nuclear lamin.
Dhe-Paganon S et al.
The Journal of Biological Chemistry, 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