MBTPS2

Publications

Bornholdt D et al. Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. Hum Mut. 2013;34(4):587-94. PMID: 23316014.

Caengprasath N et al. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies. J Derm Sci. 2023;112(3):166-169. PMID: 37923657.

Caengprasath N et al. MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. J Transl Med. 2021;19(1):114. PMID: 33743732.

Lindert U et al. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nature Comm. 2016;7:11920. PMID: 27380894.

Naiki M et al. MBTPS2 mutation causes BRESEK/BRESHECK syndrome. Am J Med Genet A. 2012;158A(1):97-102. PMID: 22105905.

Oeffner F et al. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet. 2009;84(4):459-67. PMID: 19361614.

Strong A et al. A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response. Am J Med Genet A. 2022;188(2):463-472. PMID: 34655156.