Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

Qiuping Zhang, Cornelia Bethmann, Nathalie F. Worth, +16

Human Molecular Genetics

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Gisèle Bonne, Eugenio Mercuri, Antoine Muchir, +22

Annals of Neurology

Cardiac MuscleEngineeringGeneticsMolecular GeneticsCytoskeleton +21

Both emerin and lamin C depend on lamin A for localization at the nuclear envelope

O. Anthony Vaughan, Mauricio Alvarez-Reyes, Joanna M. Bridger, +6

Journal of Cell Science

Nuclear PhysicsNuclear StructureImmunologyMolecular BiologyCytoskeleton +18

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

Lucie Gueneau, A. Bertrand, Jean-Philippe Jaı̈s, +17

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsDegenerative DiseaseMolecular Genetics +1

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy

Cristina Capanni, Elisabetta Mattioli, Marta Columbaro, +8

Human Molecular Genetics

Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization

Peter Meinke, Elisabetta Mattioli, Farhana Haque, +8

PLoS Genetics

GeneticsCytoskeletonMolecular GeneticsDisease Gene IdentificationEpigenetics +14

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

Antoine Muchir, Jacques Médioni, M. Laluc, +13

Muscle & Nerve

Nuclear StructureGeneticsPathologyMolecular BiologyCytoskeleton +16

Lamin A/C–dependent Localization of Nesprin-2, a Giant Scaffolder at the Nuclear Envelope

Thorsten Libotte, Hafida Zaim, Sabu Abraham, +11

Molecular Biology of the Cell

Protein AssemblyMolecular BiologyNuclear Envelope LocalizationCytoskeletonCellular Physiology +18

Extreme phenotypic diversity and nonpenetrance in families with the <i>LMNA</i> gene mutation R644C

Julia Rankin, Michaela Auer‐Grumbach, Warwick Bagg, +13

American Journal of Medical Genetics Part A

Lamin A Ser404 Is a Nuclear Target of Akt Phosphorylation in C2C12 Cells

Vittoria Cenni, Jessika Bertacchini, Francesca Beretti, +12

Journal of Proteome Research

Molecular BiologyCytoskeletonNuclear TargetCellular PhysiologyEdmd-2 Patient +15