Article
Interruption of progerin-lamin A/C binding ameliorates Hutchinson-Gilford progeria syndrome phenotype.
The Journal of clinical investigation - 3 Oct 2016
Lee Su-Jin, Jung Youn-Sang, Yoon Min-Ho, Kang So-Mi, Oh Ah-Young, Lee Jee-Hyun, Jun So-Young, Woo Tae-Gyun, Chun Ho-Young, Kim Sang Kyum, Chung Kyu Jin, Lee Ho-Young, Lee Kyeong, Jin Guanghai, Na Min-Kyun, Ha Nam Chul, Bárcena Clea, Freije José M P, López-Otín Carlos, Song Gyu Yong, Park Bum-Joon
Abstract excerpt
Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal dominant genetic disease that is caused by a silent mutation of the LMNA gene encoding lamins A and C (lamin A/C). The G608G mutation generates a more accessible splicing donor site than does WT and produces an alternatively spliced product of LMNA called progerin, which is also expressed in normal aged cells. In this study, we determined that...
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