mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect.
Molecular Genetics & Genomic Medicine
Piccolo, Pasquale P; Sabatino, Valeria V; Mithbaokar, Pratibha P; Polishchuk, Elena E; Hicks, John J; Polishchuk, Roman R; Bacino, Carlos A CA; Brunetti-Pierri, Nicola N
Publication Date: 2019-09
Variant appearance in text: FBN1: 5117G>A; Cys1706Tyr
Next-generation sequencing for disorders of low and high bone mineral density.
Osteoporosis International : A Journal Established As Result Of Cooperation Between The European Foundation For Osteoporosis And The National Osteoporosis Foundation Of The Usa
Sule, G G; Campeau, P M PM; Zhang, V W VW; Nagamani, S C S SC; Dawson, B C BC; Grover, M M; Bacino, C A CA; Sutton, V R VR; Brunetti-Pierri, N N; Lu, J T JT; Lemire, E E; Gibbs, R A RA; Cohn, D H DH; Cui, H H; Wong, L-J LJ; Lee, B H BH
Publication Date: 2013-08
Variant appearance in text: FBN1: 5117G>A; Cys1706Tyr