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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Clin Invest
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 2016
Pynciau:
Research Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg