Literature for peptidase M50.001: site 2 peptidase

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Literature Substrates

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

    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. \<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
  2. 2013
  3. 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
  4. 2011
  5. 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
  6. 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
  7. 2010
  8. 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
  9. 2009
  10. 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