The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress

Dunnigan-type familial partial lipodystrophy (FPLD) is a laminopathy characterized by an aberrant fat distribution and a metabolic syndrome for which oxidative stress has recently been suggested as one of the disease-causing mechanisms. In a family affected with FPLD, we identified a heterozygous mi...

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Detalles Bibliográficos
Autores principales: Verstraeten, Valerie LRM, Caputo, Sandrine, Van Steensel, Maurice AM, Duband-Goulet, Isabelle, Zinn-Justin, Sophie, Kamps, Miriam, Kuijpers, Helma JH, Östlund, Cecilia, Worman, Howard J, Briedé, Jacob J, Le Dour, Caroline, Marcelis, Carlo LM, Van Geel, Michel, Steijlen, Peter M, Van Den Wijngaard, Arthur, Ramaekers, Frans CS, Broers, Jos LV
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2009
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823411/
https://www.ncbi.nlm.nih.gov/pubmed/19220582
http://dx.doi.org/10.1111/j.1582-4934.2009.00690.x

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