Associated Papers
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.
Okawa Y et al.
Aging, 2025
The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.
Tiwari V et al.
Life Sciences, 2024
miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence.
Frankel D et al.
Iscience, 2022
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.
Araújo de Melo Campos JT et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.
DuBose AJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Hutchinson-Gilford progeria syndrome.
Ullrich NJ et al.
Handbook of Clinical Neurology, 2015
Normal and aberrant splicing of LMNA.
Luo YB et al.
Journal of Medical Genetics, 2014
A conserved splicing mechanism of the LMNA gene controls premature aging.
Lopez-Mejia IC et al.
Human Molecular Genetics, 2011
Splicing-directed therapy in a new mouse model of human accelerated aging.
Osorio FG et al.
Science Translational Medicine, 2011
Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.
Madej-Pilarczyk A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2008
Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin.
Dechat T et al.
Genes & Development, 2008
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.
Mercuri E et al.
Muscle & Nerve, 2005
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.
Fukuchi K et al.
Journal of Medical Genetics, 2004