Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency

William Irwin, Natascha Bergamin, Patrizia Sabatelli, +9

Nature Genetics

Mitochondrial MyopathyMitochondrial FunctionMitochondrial DysfunctionCollagen Vi DeficiencyPhysiology +7

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

Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment

Marta Columbaro, Cristina Capanni, Elisabetta Mattioli, +5

Cellular and Molecular Life Sciences

In Vitro Senescence and Apoptotic Cell Death of Human Megakaryocytes

Giorgio Zauli, Marco Vitale, Elisabetta Falcieri, +5

Blood

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

Patrizia Sabatelli, Paolo Bonaldo, Giovanna Lattanzi, +11

Matrix Biology

MechanobiologyFibrosisCollagen Vi DeficiencyCultured FibroblastsHuman Tissue +9

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

Ilaria Filesi, F Gullotta, Giovanna Lattanzi, +10

Physiological Genomics

Histone ModificationsEpigenetic ChangeGeneticsMolecular BiologyPathology +19

Lamin A/C sustains PcG protein architecture, maintaining transcriptional repression at target genes

Elisa Cesarini, Chiara Mozzetta, Fabrizia Marullo, +12

The Journal of Cell Biology

Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria

Vittoria Cenni, Cristina Capanni, Marta Columbaro, +10

European Journal of Histochemistry

Protein FunctionDevelopmental BiologyRapamycin TreatmentMedicineLamin-linked Progeria +12

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Roberta Roncarati, Chiara Viviani Anselmi, Peter Krawitz, +11

European Journal of Human Genetics

CardiomyopathyMendelian DisorderGenetic DisorderExome SequencingGenetics +9