Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Hogel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmuller J, Nurnberg G, Nurnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C
Nat Genet. 2014 Nov;46(11):1239-44. doi: 10.1038/ng.3103. Epub 2014 Sep 28.
(Link opens in a new window)
PubMed
(Link opens in a new window)
Article
Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 110214 | pCDNA3-Flag-SPRTN-wt | Expression in mammalian cells of full-length wild-type SPRTN protein with a Flag-tag at N-terminus. |
| 110215 | pCDNA3-Flag-SPRTN-E112A | Expression in mammalian cells of of full-length SPRTN protein carrying E112A mutation, a catalytically-dead mutant, and Flag-tag at N-terminus. |