Article
Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.
Proceedings of the National Academy of Sciences of the United States of America - 17 Apr 2018
DuBose Amanda J, Lichtenstein Stephen T, Petrash Noreen M, Erdos Michael R, Gordon Leslie B, Collins Francis S
Abstract excerpt
LMNA encodes the A-type lamins that are part of the nuclear scaffold. Mutations in LMNA can cause a variety of disorders called laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), atypical Werner syndrome, and Emery-Dreifuss muscular dystrophy. Previous work has shown that treatment of HGPS cells with the mTOR inhibitor rapamycin or with the rapamycin analog everolimus corrects several of the...
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