-
1
-
-
18244417756
-
Molecular recognition in the protein C anticoagulant pathway
-
Dahlback B, Villoutreix BO, (2003) Molecular recognition in the protein C anticoagulant pathway. J Thromb Haemost 1: 1525-1534.
-
(2003)
J Thromb Haemost
, vol.1
, pp. 1525-1534
-
-
Dahlback, B.1
Villoutreix, B.O.2
-
2
-
-
0019789514
-
Deficiency of protein C in congenital thrombotic disease
-
Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C, (1981) Deficiency of protein C in congenital thrombotic disease. J Clin Invest 68: 1370-1373.
-
(1981)
J Clin Invest
, vol.68
, pp. 1370-1373
-
-
Griffin, J.H.1
Evatt, B.2
Zimmerman, T.S.3
Kleiss, A.J.4
Wideman, C.5
-
3
-
-
34248155630
-
ProCMD: a database and 3D web resource for protein C mutants
-
D'Ursi P, Marino F, Caprera A, Milanesi L, Faioni EM, et al. (2007) ProCMD: a database and 3D web resource for protein C mutants. BMC Bioinformatics 8 (Suppl 1): S11.
-
(2007)
BMC Bioinformatics
, vol.8
, Issue.SUPPL. 1
-
-
D'Ursi, P.1
Marino, F.2
Caprera, A.3
Milanesi, L.4
Faioni, E.M.5
-
4
-
-
0026645428
-
Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation
-
Sugahara Y, Miura O, Yuen P, Aoki N, (1992) Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation. Blood 80: 126-133.
-
(1992)
Blood
, vol.80
, pp. 126-133
-
-
Sugahara, Y.1
Miura, O.2
Yuen, P.3
Aoki, N.4
-
5
-
-
0028609488
-
Compound heterozygous protein C deficiency caused by two mutations, Arg-178 to Gln and Cys-331 to Arg, leading to impaired secretion of mutant protein C
-
Sugahara Y, Miura O, Hirosawa S, Aoki N, (1994) Compound heterozygous protein C deficiency caused by two mutations, Arg-178 to Gln and Cys-331 to Arg, leading to impaired secretion of mutant protein C. Thrombosis and Haemostasis 72: 814-818.
-
(1994)
Thrombosis and Haemostasis
, vol.72
, pp. 814-818
-
-
Sugahara, Y.1
Miura, O.2
Hirosawa, S.3
Aoki, N.4
-
6
-
-
0029680791
-
Cellular basis for protein C deficiency caused by a single amino acid substitution at Arg15 in the gamma-carboxyglutamic acid domain
-
Tokunaga F, Tsukamoto T, Koide T, (1996) Cellular basis for protein C deficiency caused by a single amino acid substitution at Arg15 in the gamma-carboxyglutamic acid domain. J Biochem 120: 360-368.
-
(1996)
J Biochem
, vol.120
, pp. 360-368
-
-
Tokunaga, F.1
Tsukamoto, T.2
Koide, T.3
-
7
-
-
0029947353
-
Protein C Nagoya, an elongated mutant of protein C, is retained within the endoplasmic reticulum and is associated with GRP78 and GRP94
-
Katsumi A, Senda T, Yamashita Y, Yamazaki T, Hamaguchi M, et al. (1996) Protein C Nagoya, an elongated mutant of protein C, is retained within the endoplasmic reticulum and is associated with GRP78 and GRP94. Blood 87: 4164-4175.
-
(1996)
Blood
, vol.87
, pp. 4164-4175
-
-
Katsumi, A.1
Senda, T.2
Yamashita, Y.3
Yamazaki, T.4
Hamaguchi, M.5
-
8
-
-
0034994095
-
Symptomatic type 1 protein C deficiency caused by a de novo Ser270Leu mutation in the catalytic domain
-
Lind B, Koefoed P, Thorsen S, (2001) Symptomatic type 1 protein C deficiency caused by a de novo Ser270Leu mutation in the catalytic domain. British Journal of Haematology 113: 642-648.
-
(2001)
British Journal of Haematology
, vol.113
, pp. 642-648
-
-
Lind, B.1
Koefoed, P.2
Thorsen, S.3
-
9
-
-
0036799853
-
Protein C deficiency caused by homozygosity for a novel PROC D180G mutation--in vitro expression and structural analysis of the mutation
-
Lind B, Gedde-Dahl T, Tjonnfjord G, Villoutreix BO, Brosstad F, (2002) Protein C deficiency caused by homozygosity for a novel PROC D180G mutation--in vitro expression and structural analysis of the mutation. Thrombosis and Haemostasis 88: 632-638.
-
(2002)
Thrombosis and Haemostasis
, vol.88
, pp. 632-638
-
-
Lind, B.1
Gedde-Dahl, T.2
Tjonnfjord, G.3
Villoutreix, B.O.4
Brosstad, F.5
-
10
-
-
0037630008
-
Defective sorting to secretory vesicles in trans-Golgi network is partly responsible for protein C deficiency: molecular mechanisms of impaired secretion of abnormal protein C R169W, R352W, and G376D
-
Naito M, Mimuro J, Endo H, Madoiwa S, Ogata K, et al. (2003) Defective sorting to secretory vesicles in trans-Golgi network is partly responsible for protein C deficiency: molecular mechanisms of impaired secretion of abnormal protein C R169W, R352W, and G376D. Circulation Research 92: 865-872.
-
(2003)
Circulation Research
, vol.92
, pp. 865-872
-
-
Naito, M.1
Mimuro, J.2
Endo, H.3
Madoiwa, S.4
Ogata, K.5
-
11
-
-
33645647884
-
Molecular mechanism for hereditary protein C deficiency in two Chinese families with thrombosis
-
Zhou RF, Cai XH, Xie S, Wang XF, Wang HL, (2006) Molecular mechanism for hereditary protein C deficiency in two Chinese families with thrombosis. J Thromb Haemost 4: 1154-1156.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 1154-1156
-
-
Zhou, R.F.1
Cai, X.H.2
Xie, S.3
Wang, X.F.4
Wang, H.L.5
-
12
-
-
10444279177
-
Gradually glycosylated protein C mutants (Arg178Gln and Cys331Arg) are degraded by proteasome after mannose trimming
-
Nakahara M, Koyama T, Nakazawa F, Nishio M, Shibamiya A, et al. (2004) Gradually glycosylated protein C mutants (Arg178Gln and Cys331Arg) are degraded by proteasome after mannose trimming. Thrombosis and Haemostasis 92: 1284-1290.
-
(2004)
Thrombosis and Haemostasis
, vol.92
, pp. 1284-1290
-
-
Nakahara, M.1
Koyama, T.2
Nakazawa, F.3
Nishio, M.4
Shibamiya, A.5
-
13
-
-
51349129642
-
Proteasome degradation of protein C and plasmin inhibitor mutants
-
Nishio M, Koyama T, Nakahara M, Egawa N, Hirosawa S, (2008) Proteasome degradation of protein C and plasmin inhibitor mutants. Thrombosis and Haemostasis 100: 405-412.
-
(2008)
Thrombosis and Haemostasis
, vol.100
, pp. 405-412
-
-
Nishio, M.1
Koyama, T.2
Nakahara, M.3
Egawa, N.4
Hirosawa, S.5
-
14
-
-
34250711947
-
Activated protein C
-
Griffin JH, Fernandez JA, Gale AJ, Mosnier LO, (2007) Activated protein C. J Thromb Haemost 5 (Suppl 1): 73-80.
-
(2007)
J Thromb Haemost
, vol.5
, Issue.SUPPL. 1
, pp. 73-80
-
-
Griffin, J.H.1
Fernandez, J.A.2
Gale, A.J.3
Mosnier, L.O.4
-
17
-
-
2342584657
-
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa
-
Rebello G, Ramesar R, Vorster A, Roberts L, Ehrenreich L, et al. (2004) Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc Natl Acad Sci U S A 101: 6617-6622.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 6617-6622
-
-
Rebello, G.1
Ramesar, R.2
Vorster, A.3
Roberts, L.4
Ehrenreich, L.5
-
18
-
-
33644863652
-
Retention of mutant low density lipoprotein receptor in endoplasmic reticulum (ER) leads to ER stress
-
Sorensen S, Ranheim T, Bakken KS, Leren TP, Kulseth MA, (2006) Retention of mutant low density lipoprotein receptor in endoplasmic reticulum (ER) leads to ER stress. J Biol Chem 281: 468-476.
-
(2006)
J Biol Chem
, vol.281
, pp. 468-476
-
-
Sorensen, S.1
Ranheim, T.2
Bakken, K.S.3
Leren, T.P.4
Kulseth, M.A.5
-
19
-
-
0033864420
-
Intracellular degradation of histidine-rich glycoprotein mutants: tokushima-1 and 2 mutants are degraded by different proteolytic systems
-
Wakabayashi S, Yoshida H, Shigekiyo T, Koide T, (2000) Intracellular degradation of histidine-rich glycoprotein mutants: tokushima-1 and 2 mutants are degraded by different proteolytic systems. J Biochem 128: 201-206.
-
(2000)
J Biochem
, vol.128
, pp. 201-206
-
-
Wakabayashi, S.1
Yoshida, H.2
Shigekiyo, T.3
Koide, T.4
-
20
-
-
13244271981
-
Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion
-
Enjolras N, Plantier JL, Rodriguez MH, Rea M, Attali O, et al. (2004) Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion. J Thromb Haemost 2: 1143-1154.
-
(2004)
J Thromb Haemost
, vol.2
, pp. 1143-1154
-
-
Enjolras, N.1
Plantier, J.L.2
Rodriguez, M.H.3
Rea, M.4
Attali, O.5
-
21
-
-
29244468279
-
Characterization of endoplasmic reticulum-associated degradation of a protein S mutant identified in a family of quantitative protein S deficiency
-
Tsuda H, Tokunaga F, Nagamitsu H, Koide T, (2006) Characterization of endoplasmic reticulum-associated degradation of a protein S mutant identified in a family of quantitative protein S deficiency. Thrombosis Research 117: 323-331.
-
(2006)
Thrombosis Research
, vol.117
, pp. 323-331
-
-
Tsuda, H.1
Tokunaga, F.2
Nagamitsu, H.3
Koide, T.4
-
22
-
-
62549147038
-
The E693Delta mutation in amyloid precursor protein increases intracellular accumulation of amyloid beta oligomers and causes endoplasmic reticulum stress-induced apoptosis in cultured cells
-
Nishitsuji K, Tomiyama T, Ishibashi K, Ito K, Teraoka R, et al. (2009) The E693Delta mutation in amyloid precursor protein increases intracellular accumulation of amyloid beta oligomers and causes endoplasmic reticulum stress-induced apoptosis in cultured cells. Am J Pathol 174: 957-969.
-
(2009)
Am J Pathol
, vol.174
, pp. 957-969
-
-
Nishitsuji, K.1
Tomiyama, T.2
Ishibashi, K.3
Ito, K.4
Teraoka, R.5
-
23
-
-
0037969934
-
Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis
-
Hashimoto Y, Tomiyama T, Yamano Y, Mori H, (2003) Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis. Am J Pathol 163: 101-110.
-
(2003)
Am J Pathol
, vol.163
, pp. 101-110
-
-
Hashimoto, Y.1
Tomiyama, T.2
Yamano, Y.3
Mori, H.4
-
24
-
-
73949154312
-
Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted
-
Park SY, Ye H, Steiner DF, Bell GI, (2010) Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted. Biochem Biophys Res Commun 391: 1449-1454.
-
(2010)
Biochem Biophys Res Commun
, vol.391
, pp. 1449-1454
-
-
Park, S.Y.1
Ye, H.2
Steiner, D.F.3
Bell, G.I.4
-
25
-
-
20044378690
-
A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation
-
Mulugeta S, Nguyen V, Russo SJ, Muniswamy M, Beers MF, (2005) A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation. Am J Respir Cell Mol Biol 32: 521-530.
-
(2005)
Am J Respir Cell Mol Biol
, vol.32
, pp. 521-530
-
-
Mulugeta, S.1
Nguyen, V.2
Russo, S.J.3
Muniswamy, M.4
Beers, M.F.5
-
26
-
-
35448933677
-
Endoplasmic reticulum stress caused by aggregate-prone proteins containing homopolymeric amino acids
-
Uchio N, Oma Y, Toriumi K, Sasagawa N, Tanida I, et al. (2007) Endoplasmic reticulum stress caused by aggregate-prone proteins containing homopolymeric amino acids. FEBS J 274: 5619-5627.
-
(2007)
FEBS J
, vol.274
, pp. 5619-5627
-
-
Uchio, N.1
Oma, Y.2
Toriumi, K.3
Sasagawa, N.4
Tanida, I.5
-
27
-
-
67649859658
-
Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress
-
Liu Y, Wang Y, Wu C, Liu Y, Zheng P, (2009) Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress. Hum Mol Genet 18: 2622-2631.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2622-2631
-
-
Liu, Y.1
Wang, Y.2
Wu, C.3
Liu, Y.4
Zheng, P.5
-
28
-
-
77956495529
-
Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport
-
Tjeldhorn L, Iversen N, Sandvig K, Bergan J, Sandset PM, et al. (2010) Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport. BMC Cell Biol 11: 67.
-
(2010)
BMC Cell Biol
, vol.11
, pp. 67
-
-
Tjeldhorn, L.1
Iversen, N.2
Sandvig, K.3
Bergan, J.4
Sandset, P.M.5
-
29
-
-
33646195309
-
Temperature sensitive secretion of mutant myocilins
-
Vollrath D, Liu Y, (2006) Temperature sensitive secretion of mutant myocilins. Exp Eye Res 82: 1030-1036.
-
(2006)
Exp Eye Res
, vol.82
, pp. 1030-1036
-
-
Vollrath, D.1
Liu, Y.2
-
30
-
-
34447103301
-
4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality
-
Yam GH, Roth J, Zuber C, (2007) 4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality. Biochem Biophys Res Commun 360: 375-380.
-
(2007)
Biochem Biophys Res Commun
, vol.360
, pp. 375-380
-
-
Yam, G.H.1
Roth, J.2
Zuber, C.3
-
31
-
-
43749115379
-
Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding
-
Gelsthorpe ME, Baumann N, Millard E, Gale SE, Langmade SJ, et al. (2008) Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding. J Biol Chem 283: 8229-8236.
-
(2008)
J Biol Chem
, vol.283
, pp. 8229-8236
-
-
Gelsthorpe, M.E.1
Baumann, N.2
Millard, E.3
Gale, S.E.4
Langmade, S.J.5
-
32
-
-
40849134264
-
Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants
-
Vu D, Di SC, Neerman-Arbez M, (2008) Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants. Haematologica 93: 224-231.
-
(2008)
Haematologica
, vol.93
, pp. 224-231
-
-
Vu, D.1
Di, S.C.2
Neerman-Arbez, M.3
-
33
-
-
0034717072
-
Degradation of human thyroperoxidase in the endoplasmic reticulum involves two different pathways depending on the folding state of the protein
-
Fayadat L, Siffroi-Fernandez S, Lanet J, Franc JL, (2000) Degradation of human thyroperoxidase in the endoplasmic reticulum involves two different pathways depending on the folding state of the protein. Journal of Biological Chemistry 275: 15948-15954.
-
(2000)
Journal of Biological Chemistry
, vol.275
, pp. 15948-15954
-
-
Fayadat, L.1
Siffroi-Fernandez, S.2
Lanet, J.3
Franc, J.L.4
-
34
-
-
0029665491
-
A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule
-
Arbini AA, Mannucci M, Bauer KA, (1996) A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. Blood 87: 5085-5094.
-
(1996)
Blood
, vol.87
, pp. 5085-5094
-
-
Arbini, A.A.1
Mannucci, M.2
Bauer, K.A.3
-
35
-
-
56749176947
-
One step at a time: endoplasmic reticulum-associated degradation
-
Vembar SS, Brodsky JL, (2008) One step at a time: endoplasmic reticulum-associated degradation. Nat Rev Mol Cell Biol 9: 944-957.
-
(2008)
Nat Rev Mol Cell Biol
, vol.9
, pp. 944-957
-
-
Vembar, S.S.1
Brodsky, J.L.2
-
36
-
-
67649745807
-
The Endoplasmic Reticulum-associated Degradation of Transthyretin Variants Is Negatively Regulated by BiP in Mammalian Cells
-
Susuki S, Sato T, Miyata M, Momohara M, Suico MA, et al. (2009) The Endoplasmic Reticulum-associated Degradation of Transthyretin Variants Is Negatively Regulated by BiP in Mammalian Cells. J Biol Chem 284: 8312-8321.
-
(2009)
J Biol Chem
, vol.284
, pp. 8312-8321
-
-
Susuki, S.1
Sato, T.2
Miyata, M.3
Momohara, M.4
Suico, M.A.5
-
37
-
-
34248997838
-
N-glycan structure dictates extension of protein folding or onset of disposal
-
Molinari M, (2007) N-glycan structure dictates extension of protein folding or onset of disposal. Nat Chem Biol 3: 313-320.
-
(2007)
Nat Chem Biol
, vol.3
, pp. 313-320
-
-
Molinari, M.1
-
38
-
-
17044402604
-
The biological and chemical basis for tissue-selective amyloid disease
-
Sekijima Y, Wiseman RL, Matteson J, Hammarstrom P, Miller SR, et al. (2005) The biological and chemical basis for tissue-selective amyloid disease. Cell 121: 73-85.
-
(2005)
Cell
, vol.121
, pp. 73-85
-
-
Sekijima, Y.1
Wiseman, R.L.2
Matteson, J.3
Hammarstrom, P.4
Miller, S.R.5
-
39
-
-
35748948975
-
In and out of the ER: protein folding, quality control, degradation, and related human diseases
-
Hebert DN, Molinari M, (2007) In and out of the ER: protein folding, quality control, degradation, and related human diseases. Physiol Rev 87: 1377-1408.
-
(2007)
Physiol Rev
, vol.87
, pp. 1377-1408
-
-
Hebert, D.N.1
Molinari, M.2
-
40
-
-
70350323730
-
Endoplasmic reticulum stress reduces the export from the ER and alters the architecture of post-ER compartments
-
Amodio G, Renna M, Paladino S, Venturi C, Tacchetti C, et al. (2009) Endoplasmic reticulum stress reduces the export from the ER and alters the architecture of post-ER compartments. Int J Biochem Cell Biol 41: 2511-2521.
-
(2009)
Int J Biochem Cell Biol
, vol.41
, pp. 2511-2521
-
-
Amodio, G.1
Renna, M.2
Paladino, S.3
Venturi, C.4
Tacchetti, C.5
|