Interruption of progerin–lamin A/C binding ameliorates Hutchinson-Gilford progeria syndrome phenotype

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 pro...

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Bibliografiska uppgifter
I publikationen:J Clin Invest
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Clinical Investigation 2016
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5096810/
https://ncbi.nlm.nih.gov/pubmed/27617860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI84164
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