-
1
-
-
78049294738
-
A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA
-
Altamura S, D’Alessio F, Selle B, Muckenthaler MU. A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. Biochem J 431: 363-371, 2010.
-
(2010)
Biochem J
, vol.431
, pp. 363-371
-
-
Altamura, S.1
D’Alessio, F.2
Selle, B.3
Muckenthaler, M.U.4
-
2
-
-
80051694598
-
Essential role of endocytosis of the type II transmembrane serine protease TMPRSS6 in regulating its functionality
-
Beliveau F, Brule C, Desilets A, Zimmerman B, Laporte SA, Lavoie CL, Leduc R. Essential role of endocytosis of the type II transmembrane serine protease TMPRSS6 in regulating its functionality. J Biol Chem 286: 29035-29043, 2011.
-
(2011)
J Biol Chem
, vol.286
, pp. 29035-29043
-
-
Beliveau, F.1
Brule, C.2
Desilets, A.3
Zimmerman, B.4
Laporte, S.A.5
Lavoie, C.L.6
Leduc, R.7
-
3
-
-
0028944377
-
Functional activation of the cystic fibrosis trafficking mutant ΔF508-CFTR by overexpression
-
Cheng SH, Fang SL, Zabner J, Marshall J, Piraino S, Schiavi SC, Jefferson DM, Welsh MJ, Smith AE. Functional activation of the cystic fibrosis trafficking mutant ΔF508-CFTR by overexpression. Am J Physiol Lung Cell Mol Physiol 268: L615-L624, 1995.
-
(1995)
Am J Physiol Lung Cell Mol Physiol
, vol.268
, pp. L615-L624
-
-
Cheng, S.H.1
Fang, S.L.2
Zabner, J.3
Marshall, J.4
Piraino, S.5
Schiavi, S.C.6
Jefferson, D.M.7
Welsh, M.J.8
Smith, A.E.9
-
5
-
-
77951822044
-
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)
-
De Falco L, Totaro F, Nai A, Pagani A, Girelli D, Silvestri L, Piscopo C, Campostrini N, Dufour C, Al Manjomi F, Minkov M, Van Vuurden DG, Feliu A, Kattamis A, Camaschella C, Iolascon A. Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). Hum Mutat 31: E1390-E1405, 2010.
-
(2010)
Hum Mutat
, vol.31
, pp. E1390-E1405
-
-
De Falco, L.1
Totaro, F.2
Nai, A.3
Pagani, A.4
Girelli, D.5
Silvestri, L.6
Piscopo, C.7
Campostrini, N.8
Dufour, C.9
Al Manjomi, F.10
Minkov, M.11
Van Vuurden, D.G.12
Feliu, A.13
Kattamis, A.14
Camaschella, C.15
Iolascon, A.16
-
6
-
-
0026337305
-
Chloride conductance expressed by ΔF508 and other mutant CFTRs in Xenopus oocytes
-
Drumm ML, Wilkinson DJ, Smit LS, Worrell RT, Strong TV, Frizzell RA, Dawson DC, Collins FS. Chloride conductance expressed by ΔF508 and other mutant CFTRs in Xenopus oocytes. Science 254: 1797-1799, 1991.
-
(1991)
Science
, vol.254
, pp. 1797-1799
-
-
Drumm, M.L.1
Wilkinson, D.J.2
Smit, L.S.3
Worrell, R.T.4
Strong, T.V.5
Frizzell, R.A.6
Dawson, D.C.7
Collins, F.S.8
-
7
-
-
44449177930
-
The serine protease TMPRSS6 is required to sense iron deficiency
-
Du X, She E, Gelbart T, Truksa J, Lee P, Xia Y, Khovananth K, Mudd S, Mann N, Moresco EM, Beutler E, Beutler B. The serine protease TMPRSS6 is required to sense iron deficiency. Science 320: 1088-1092, 2008.
-
(2008)
Science
, vol.320
, pp. 1088-1092
-
-
Du, X.1
She, E.2
Gelbart, T.3
Truksa, J.4
Lee, P.5
Xia, Y.6
Khovananth, K.7
Mudd, S.8
Mann, N.9
Moresco, E.M.10
Beutler, E.11
Beutler, B.12
-
8
-
-
11144355340
-
Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects
-
Egan ME, Pearson M, Weiner SA, Rajendran V, Rubin D, Glockner-Pagel J, Canny S, Du K, Lukacs GL, Caplan MJ. Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science 304: 600-602, 2004.
-
(2004)
Science
, vol.304
, pp. 600-602
-
-
Egan, M.E.1
Pearson, M.2
Weiner, S.A.3
Rajendran, V.4
Rubin, D.5
Glockner-Pagel, J.6
Canny, S.7
Du, K.8
Lukacs, G.L.9
Caplan, M.J.10
-
9
-
-
42649118442
-
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
-
Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet 40: 569-571, 2008.
-
(2008)
Nat Genet
, vol.40
, pp. 569-571
-
-
Finberg, K.E.1
Heeney, M.M.2
Campagna, D.R.3
Aydinok, Y.4
Pearson, H.A.5
Hartman, K.R.6
Mayo, M.M.7
Samuel, S.M.8
Strouse, J.J.9
Markianos, K.10
Rews, N.C.11
Fleming, M.D.12
-
10
-
-
54349096688
-
Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis
-
Folgueras AR, de Lara FM, Pendas AM, Garabaya C, Rodriguez F, Astudillo A, Bernal T, Cabanillas R, Lopez-Otin C, Velasco G. Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis. Blood 112: 2539-2545, 2008.
-
(2008)
Blood
, vol.112
, pp. 2539-2545
-
-
Folgueras, A.R.1
De Lara, F.M.2
Pendas, A.M.3
Garabaya, C.4
Rodriguez, F.5
Astudillo, A.6
Bernal, T.7
Cabanillas, R.8
Lopez-Otin, C.9
Velasco, G.10
-
11
-
-
84875849962
-
Reducing TMPRSS6 ameliorates hemochromatosis and β-thalassemia in mice
-
Guo S, Casu C, Gardenghi S, Booten S, Aghajan M, Peralta R, Watt A, Freier S, Monia BP, Rivella S. Reducing TMPRSS6 ameliorates hemochromatosis and β-thalassemia in mice. J Clin Invest 123: 1531-1541, 2013.
-
(2013)
J Clin Invest
, vol.123
, pp. 1531-1541
-
-
Guo, S.1
Casu, C.2
Gardenghi, S.3
Booten, S.4
Aghajan, M.5
Peralta, R.6
Watt, A.7
Freier, S.8
Monia, B.P.9
Rivella, S.10
-
12
-
-
78449285992
-
TMPRSS13, a type II transmembrane serine protease, is inhibited by hepatocyte growth factor activator inhibitor type 1 and activates pro-hepatocyte growth factor
-
Hashimoto T, Kato M, Shimomura T, Kitamura N. TMPRSS13, a type II transmembrane serine protease, is inhibited by hepatocyte growth factor activator inhibitor type 1 and activates pro-hepatocyte growth factor. FEBS J 277: 4888-4900, 2010.
-
(2010)
FEBS J
, vol.277
, pp. 4888-4900
-
-
Hashimoto, T.1
Kato, M.2
Shimomura, T.3
Kitamura, N.4
-
13
-
-
77956210264
-
Proteolysis-induced N-terminal ectodomain shedding of the integral membrane glycoprotein CUB domain-containing protein 1 (CDCP1) is accompanied by tyrosine phosphorylation of its C-terminal domain and recruitment of Src and PKCδ
-
He Y, Wortmann A, Burke LJ, Reid JC, Adams MN, Abdul-Jabbar I, Quigley JP, Leduc R, Kirchhofer D, Hooper JD. Proteolysis-induced N-terminal ectodomain shedding of the integral membrane glycoprotein CUB domain-containing protein 1 (CDCP1) is accompanied by tyrosine phosphorylation of its C-terminal domain and recruitment of Src and PKCδ. J Biol Chem 285: 26162-26173, 2010.
-
(2010)
J Biol Chem
, vol.285
, pp. 26162-26173
-
-
He, Y.1
Wortmann, A.2
Burke, L.J.3
Reid, J.C.4
Adams, M.N.5
Abdul-Jabbar, I.6
Quigley, J.P.7
Leduc, R.8
Kirchhofer, D.9
Hooper, J.D.10
-
14
-
-
0032544921
-
Development of a bicistronic vector driven by the human polypeptide chain elongation factor 1 promoter for creation of stable mammalian cell lines that express very high levels of recombinant proteins
-
Hobbs S, Jitrapakdee S, Wallace JC. Development of a bicistronic vector driven by the human polypeptide chain elongation factor 1 promoter for creation of stable mammalian cell lines that express very high levels of recombinant proteins. Biochem Biophys Res Commun 252: 368-372, 1998.
-
(1998)
Biochem Biophys Res Commun
, vol.252
, pp. 368-372
-
-
Hobbs, S.1
Jitrapakdee, S.2
Wallace, J.C.3
-
15
-
-
84871632796
-
Roles of CUB and LDL receptor class A domain repeats of a transmembrane serine protease matriptase in its zymogen activation
-
Inouye K, Tomoishi M, Yasumoto M, Miyake Y, Kojima K, Tsuzuki S, Fushiki T. Roles of CUB and LDL receptor class A domain repeats of a transmembrane serine protease matriptase in its zymogen activation. J Biochem 153: 51-61, 2013.
-
(2013)
J Biochem
, vol.153
, pp. 51-61
-
-
Inouye, K.1
Tomoishi, M.2
Yasumoto, M.3
Miyake, Y.4
Kojima, K.5
Tsuzuki, S.6
Fushiki, T.7
-
16
-
-
84904191223
-
N-glycosylation is required for matriptase-2 autoactivation and ectodomain shedding
-
Jiang J, Yang J, Feng P, Zuo B, Dong N, Wu Q, He Y. N-glycosylation is required for matriptase-2 autoactivation and ectodomain shedding. J Biol Chem 289: 19500-19507, 2014.
-
(2014)
J Biol Chem
, vol.289
, pp. 19500-19507
-
-
Jiang, J.1
Yang, J.2
Feng, P.3
Zuo, B.4
Dong, N.5
Wu, Q.6
He, Y.7
-
17
-
-
30044448792
-
Autoproteolysis coupled to protein folding in the SEA domain of the membrane-bound MUC1 mucin
-
Macao B, Johansson DG, Hansson GC, Hard T. Autoproteolysis coupled to protein folding in the SEA domain of the membrane-bound MUC1 mucin. Nat Struct Mol Biol 13: 71-76, 2006.
-
(2006)
Nat Struct Mol Biol
, vol.13
, pp. 71-76
-
-
Macao, B.1
Johansson, D.G.2
Hansson, G.C.3
Hard, T.4
-
18
-
-
84874616394
-
Hepatocyte growth factor activator inhibitor type 2 (HAI-2) modulates hepcidin expression by inhibiting the cell surface protease matriptase-2
-
Maurer E, Gutschow M, Stirnberg M. Hepatocyte growth factor activator inhibitor type 2 (HAI-2) modulates hepcidin expression by inhibiting the cell surface protease matriptase-2. Biochem J 450: 583-593, 2013.
-
(2013)
Biochem J
, vol.450
, pp. 583-593
-
-
Maurer, E.1
Gutschow, M.2
Stirnberg, M.3
-
19
-
-
77949707165
-
Increased iron stores correlate with worse disease outcomes in a mouse model of schistosomiasis infection
-
McDonald CJ, Jones MK, Wallace DF, Summerville L, Nawaratna S, Subramaniam VN. Increased iron stores correlate with worse disease outcomes in a mouse model of schistosomiasis infection. PLos One 5: e9594, 2010.
-
(2010)
Plos One
, pp. 5
-
-
McDonald, C.J.1
Jones, M.K.2
Wallace, D.F.3
Summerville, L.4
Nawaratna, S.5
Subramaniam, V.N.6
-
20
-
-
79951670710
-
G80S-linked ferroportin disease: Classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective
-
McDonald CJ, Wallace DF, Ostini L, Bell SJ, Demediuk B, Subramaniam VN. G80S-linked ferroportin disease: classical ferroportin disease in an Asian family and reclassification of the mutant as iron transport defective. J Hepatol 54: 538-544, 2011.
-
(2011)
J Hepatol
, vol.54
, pp. 538-544
-
-
McDonald, C.J.1
Wallace, D.F.2
Ostini, L.3
Bell, S.J.4
Demediuk, B.5
Subramaniam, V.N.6
-
21
-
-
63449122819
-
Lack of the bone morphogenetic protein BMP6 induces massive iron overload
-
Meynard D, Kautz L, Darnaud V, Canonne-Hergaux F, Coppin H, Roth MP. Lack of the bone morphogenetic protein BMP6 induces massive iron overload. Nat Genet 41: 478-481, 2009.
-
(2009)
Nat Genet
, vol.41
, pp. 478-481
-
-
Meynard, D.1
Kautz, L.2
Darnaud, V.3
Canonne-Hergaux, F.4
Coppin, H.5
Roth, M.P.6
-
22
-
-
10844258104
-
Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
-
Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM, Ganz T, Kaplan J. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 306: 2090-2093, 2004.
-
(2004)
Science
, vol.306
, pp. 2090-2093
-
-
Nemeth, E.1
Tuttle, M.S.2
Powelson, J.3
Vaughn, M.B.4
Donovan, A.5
Ward, D.M.6
Ganz, T.7
Kaplan, J.8
-
23
-
-
0036791486
-
The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation
-
Nicolas G, Chauvet C, Viatte L, Danan JL, Bigard X, Devaux I, Beaumont C, Kahn A, Vaulont S. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J Clin Invest 110: 1037-1044, 2002.
-
(2002)
J Clin Invest
, vol.110
, pp. 1037-1044
-
-
Nicolas, G.1
Chauvet, C.2
Viatte, L.3
Danan, J.L.4
Bigard, X.5
Devaux, I.6
Beaumont, C.7
Kahn, A.8
Vaulont, S.9
-
24
-
-
70350757743
-
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
-
Ramsay AJ, Quesada V, Sanchez M, Garabaya C, Sarda MP, Baiget M, Remacha A, Velasco G, Lopez-Otin C. Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Hum Mol Genet 18: 3673-3683, 2009.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3673-3683
-
-
Ramsay, A.J.1
Quesada, V.2
Sanchez, M.3
Garabaya, C.4
Sarda, M.P.5
Baiget, M.6
Remacha, A.7
Velasco, G.8
Lopez-Otin, C.9
-
25
-
-
84896734636
-
Modulation of hepcidin as therapy for primary and secondary iron overload disorders: Preclinical models and approaches
-
Schmidt PJ, Fleming MD. Modulation of hepcidin as therapy for primary and secondary iron overload disorders: preclinical models and approaches. Hematol Oncol Clin North Am 28: 387-401, 2014.
-
(2014)
Hematol Oncol Clin North Am
, vol.28
, pp. 387-401
-
-
Schmidt, P.J.1
Fleming, M.D.2
-
26
-
-
84874066920
-
An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe-/-mice and ameliorates anemia and iron overload in murine β-thalassemia intermedia
-
Schmidt PJ, Toudjarska I, Sendamarai AK, Racie T, Milstein S, Bettencourt BR, Hettinger J, Bumcrot D, Fleming MD. An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe-/-mice and ameliorates anemia and iron overload in murine β-thalassemia intermedia. Blood 121: 1200-1208, 2013.
-
(2013)
Blood
, vol.121
, pp. 1200-1208
-
-
Schmidt, P.J.1
Toudjarska, I.2
Sendamarai, A.K.3
Racie, T.4
Milstein, S.5
Bettencourt, B.R.6
Hettinger, J.7
Bumcrot, D.8
Fleming, M.D.9
-
27
-
-
0036777652
-
One-step site-directed mutagenesis of ATM cDNA in large (20kb) plasmid constructs
-
Scott SP, Teh A, Peng C, Lavin MF. One-step site-directed mutagenesis of ATM cDNA in large (20kb) plasmid constructs. Hum Mutat 20: 323, 2002.
-
(2002)
Hum Mutat
, vol.20
, pp. 323
-
-
Scott, S.P.1
Teh, A.2
Peng, C.3
Lavin, M.F.4
-
28
-
-
56449096622
-
The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin
-
Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, Camaschella C. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin. Cell Metab 8: 502-511, 2008.
-
(2008)
Cell Metab
, vol.8
, pp. 502-511
-
-
Silvestri, L.1
Pagani, A.2
Nai, A.3
De Domenico, I.4
Kaplan, J.5
Camaschella, C.6
-
29
-
-
57649183234
-
Potent inhibition and global co-localization implicate the transmembrane Kunitztype serine protease inhibitor hepatocyte growth factor activator inhibitor-2 in the regulation of epithelial matriptase activity
-
Szabo R, Hobson JP, List K, Molinolo A, Lin CY, Bugge TH. Potent inhibition and global co-localization implicate the transmembrane Kunitztype serine protease inhibitor hepatocyte growth factor activator inhibitor-2 in the regulation of epithelial matriptase activity. J Biol Chem 283: 29495-29504, 2008.
-
(2008)
J Biol Chem
, vol.283
, pp. 29495-29504
-
-
Szabo, R.1
Hobson, J.P.2
List, K.3
Molinolo, A.4
Lin, C.Y.5
Bugge, T.H.6
-
30
-
-
0037020169
-
Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins
-
Velasco G, Cal S, Quesada V, Sanchez LM, Lopez-Otin C. Matriptase-2, a membrane-bound mosaic serine proteinase predominantly expressed in human liver and showing degrading activity against extracellular matrix proteins. J Biol Chem 277: 37637-37646, 2002.
-
(2002)
J Biol Chem
, vol.277
, pp. 37637-37646
-
-
Velasco, G.1
Cal, S.2
Quesada, V.3
Sanchez, L.M.4
Lopez-Otin, C.5
-
31
-
-
39349110894
-
Defective trafficking and localization of mutated transferrin receptor 2: Implications for type 3 hereditary hemochromatosis
-
Wallace DF, Summerville L, Crampton EM, Subramaniam VN. Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis. Am J Physiol Cell Physiol 294: C383-C390, 2008.
-
(2008)
Am J Physiol Cell Physiol
, vol.294
, pp. C383-C390
-
-
Wallace, D.F.1
Summerville, L.2
Crampton, E.M.3
Subramaniam, V.N.4
|