Literature for peptidase S08.063: site-1 peptidase

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

2019
1. Schweitzer,G.G., Gan,C., Bucelli,R.C., Wegner,D., Schmidt,R.E., Shinawi,M., Finck,B.N. and Brookheart,R.T.
   A mutation in site-1 protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema
   Mol Genet Genomic Med7, e00733-e00733. PubMed  Europe PubMed DOI  M
2018
2. Kondo,Y., Fu,J., Wang,H., Hoover,C., McDaniel,J.M., Steet,R., Patra,D., Song,J., Pollard,L., Cathey,S., Yago,T., Wiley,G., Macwana,S., Guthridge,J., McGee,S., Li,S., Griffin,C., Furukawa,K., James,J.A., Ruan,C., McEver,R.P., Wierenga,K.J., Gaffney,P.M. and Xia,L.
   Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking
   JCI Insight3, PubMed  Europe PubMed DOI  M
2012
3. Rutschmann,S., Crozat,K., Li,X., Du,X., Hanselman,J.C., Shigeoka,A.A., Brandl,K., Popkin,D.L., McKay,D.B., Xia,Y., Moresco,E.M. and Beutler,B.
   Hypopigmentation and maternal-zygotic embryonic lethality caused by a hypomorphic mbtps1 mutation in mice
   G3 (Bethesda)2, 499-504. PubMed  Europe PubMed DOI  M
2011
4. Howarth,D.L., Passeri,M. and Sadler,K.C.
   Drinks like a fish: using zebrafish to understand alcoholic liver disease
   Alcohol Clin Exp Res35, 826-829. PubMed  Europe PubMed DOI  M
5. Ozdemir,C. and Rawson,R.B.
   Other ways to skin a cat: activating SREBP without scap
   Fly (Austin)5, 3-6. PubMed  Europe PubMed  M  V
6. Popkin,D.L., Teijaro,J.R., Sullivan,B.M., Urata,S., Rutschmann,S., de la Torre,J.C., Kunz,S., Beutler,B. and Oldstone,M.
   Hypomorphic mutation in the site-1 protease mbtps1 endows resistance to persistent viral infection in a cell-specific manner
   Cell Host Microbe9, 212-222. PubMed  Europe PubMed DOI  M