Article
Splicing-directed therapy in a new mouse model of human accelerated aging.
Science translational medicine - 26 Oct 2011
Osorio Fernando G, Navarro Claire L, Cadiñanos Juan, López-Mejía Isabel C, Quirós Pedro M, Bartoli Catherine, Rivera José, Tazi Jamal, Guzmán Gabriela, Varela Ignacio, Depetris Danielle, de Carlos Félix, Cobo Juan, Andrés Vicente, De Sandre-Giovannoli Annachiara, Freije José M P, Lévy Nicolas, López-Otín Carlos
Abstract excerpt
Hutchinson-Gilford progeria syndrome (HGPS) is caused by a point mutation in the LMNA gene that activates a cryptic donor splice site and yields a truncated form of prelamin A called progerin. Small amounts of progerin are also produced during normal aging. Studies with mouse models of HGPS have allowed the recent development of the first therapeutic approaches for this disease. However, none of these earlier...
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