Literature for peptidase M50.001: site 2 peptidase
(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)
- Lindert,U., Cabral,W.A., Ausavarat,S., Tongkobpetch,S., Ludin,K., Barnes,A.M., Yeetong,P., Weis,M., Krabichler,B., Srichomthong,C., Makareeva,E.N., Janecke,A.R., Leikin,S., Rothlisberger,B., Rohrbach,M., Kennerknecht,I., Eyre,D.R., Suphapeetiporn,K., Giunta,C., Marini,J.C. and Shotelersuk,V. \<br\>MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta\<br\>Nat Commun (2016) 7, 11920. PubMed Europe PubMed DOI PMC EPMC M
- Bornholdt,D., Atkinson,T.P., Bouadjar,B., Catteau,B., Cox,H., De Silva,D., Fischer,J., Gunasekera,C.N., Hadj-Rabia,S., Happle,R., Holder-Espinasse,M., Kaminski,E., Konig,A., Megarbane,A., Megarbane,H., Neidel,U., Oeffner,F., Oji,V., Theos,A., Traupe,H., Vahlquist,A., van Bon,B.W., Virtanen,M. and Grzeschik,K.H. \<br\>Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2\<br\>Hum Mutat (2013) 34, 587-594. PubMed Europe PubMed DOI M
- Oeffner,F., Martinez,F., Schaffer,J., Salhi,A., Monfort,S., Oltra,S., Neidel,U., Bornholdt,D., van Bon,B., Konig,A., Happle,R. and Grzeschik,K.H. \<br\>Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome\<br\>Exp Dermatol (2011) 20, 447-449. PubMed Europe PubMed DOI M
- Ozdemir,C. and Rawson,R.B. \<br\>Other ways to skin a cat: activating SREBP without scap\<br\>Fly (Austin) (2011) 5, 3-6. PubMed Europe PubMed M V
- Aten,E., Brasz,L.C., Bornholdt,D., Hooijkaas,I.B., Porteous,M.E., Sybert,V.P., Vermeer,M.H., Vossen,R.H., van der Wielen,M.J., Bakker,E., Breuning,M.H., Grzeschik,K.H., Oosterwijk,J.C. and den Dunnen,J.T. \<br\>Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2\<br\>Hum Mutat (2010) 31, 1125-1133. PubMed Europe PubMed DOI M
- Oeffner,F., Fischer,G., Happle,R., Konig,A., Betz,R.C., Bornholdt,D., Neidel,U., Boente,M., Redler,S., Romero-Gomez,J., Salhi,A., Vera-Casano,A., Weirich,C. and Grzeschik,K.H. \<br\>IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response\<br\>Am J Hum Genet (2009) 84, 459-467. PubMed Europe PubMed DOI PMC EPMC M
2016
2013
2011
2010
2009