Literature for peptidase M50.001: site 2 peptidase

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2016
1. 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.
   MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
   Nat Commun7, 11920-11920. PubMed  Europe PubMed DOI  M
2013
2. 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.
   Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2
   Hum Mutat34, 587-594. PubMed  Europe PubMed DOI  M
2011
3. 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.
   Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome
   Exp Dermatol20, 447-449. PubMed  Europe PubMed DOI  M
4. 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
2010
5. 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.
   Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2
   Hum Mutat31, 1125-1133. PubMed  Europe PubMed DOI  M
2009
6. 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.
   IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response
   Am J Hum Genet84, 459-467. PubMed  Europe PubMed DOI  M