| MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. | MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.
Caengprasath N, Theerapanon T, Porntaveetus T, Shotelersuk V., Free PMC Article | 08/28/2021 |
| MBTPS2 mutation is associated with Retinal venous tortuosity. | Retinal venous tortuosity in a woman hemizygous for MBTPS2 mutation.
Khan AO, Al Teneiji AM. | 04/4/2020 |
| Study reports a novel missense mutation c.638C>T (p.Ser213Leu) in MBTPS2 in a large Chinese family with keratosis follicularis spinulosa decalvans. | Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family.
Chen C, Xu C, Li H, Jia M, Tang S. | 12/14/2019 |
| Study reports a three-generation Chinese pedigree with a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome caused by a novel hemizygous missense mutation c.1494G>T (p.Leu498Phe) in exon 11 of MBTPS2. | Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree.
Yang Z, Xu Z, Xing H, Ma L. | 08/31/2019 |
| MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. | MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Röthlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V., Free PMC Article | 08/25/2018 |
| This study identified a direct regulatory effect of MBTPS2 on TRPV3 which can partially contribute to the overlapping clinical features of IFAP and Olmsted syndromes under a common signaling pathway. | Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3.
Nemer G, Safi R, Kreidieh F, Usta J, Bergqvist C, Ballout F, Btadini W, Hamzeh N, Abbas O, Kibbi AG, Shimomura Y, Kurban M. | 07/7/2018 |
| S2P is essential owing to its activation of the sterol regulatory element binding proteins (SREBPs); in the absence of exogenous lipid, cells lacking S2P cannot survive. (Review) | The site-2 protease.
Rawson RB. | 12/7/2013 |
| In male patients, a genotype-phenotype correlation has begun to emerge, linking the site of the mutation in MBTPS2 with the clinical outcome described as IFAP syndrome. | Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH. | 09/7/2013 |
| We demonstrate a novel association between an MBTPS2 mutation and an X-linked form of Olmsted syndrome. | A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.
Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP. | 03/16/2013 |
| We report a fourth pedigree affected with Keratosis Follicularis Spinulosa Decalvans resulting from a recurrent missense mutation in the MBTPS2 gene. | MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.
Fong K, Wedgeworth EK, Lai-Cheong JE, Tosi I, Mellerio JE, Powell AM, McGrath JA. | 11/17/2012 |
| Both intronic MBTPS2 c.671-9T>G and c.225-6T>A point mutations are ichthyosis follicularis, alopecia and photophobia syndrome causing mutations. | Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.
Oeffner F, Martinez F, Schaffer J, Salhi A, Monfort S, Oltra S, Neidel U, Bornholdt D, van Bon B, König A, Happle R, Grzeschik KH. | 09/17/2011 |
| We confirm that MBTPS2 mutations cause ichthyosis follicularis atricia and photophobia syndrome in patients of Chinese origin | A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.
Tang L, Liang J, Wang W, Yu L, Yao Z. | 06/4/2011 |
| Chinese family with a mild IFAP phenotype and a novel mutation in the MBTPS2 gene | A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.
Ding YG, Wang JY, Qiao JJ, Mao XH, Cai SQ. | 05/7/2011 |
| Missense mutations in the MBTPS2 gene have been identified as the cause of Follicularis Spinulosa Decalvans (KFSD). | Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT. | 01/29/2011 |
| study presents the largest kindred of ichthyosis follicularis, alopecia and photophobia (IFAP) reported to date clearly demonstrating X-linked inheritance; missense mutations of the gene, MBTPS2 are associated with the IFAP phenotype in this kindred | Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.
Ming A, Happle R, Grzeschik KH, Fischer G. | 01/21/2010 |
| assign the IFAP syndrome locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missense mutations of membrane-bound transcription factor protease, site 2 (MBTPS2) are associated with this phenotype | IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casaño A, Weirich C, Grzeschik KH., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM. | 09/24/2008 |
| S2P-mediated ATF6 cleavage is involved in regulating XBP1 in signaling the unfolded protein response. | IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response.
Lee K, Tirasophon W, Shen X, Michalak M, Prywes R, Okada T, Yoshida H, Mori K, Kaufman RJ., Free PMC Article | 01/21/2010 |
| S2P cleavage is blocked by the bulky ATF6 luminal domain, which is reduced in size by S1P | Dependence of site-2 protease cleavage of ATF6 on prior site-1 protease digestion is determined by the size of the luminal domain of ATF6.
Shen J, Prywes R. | 01/21/2010 |