-
1
-
-
84992686518
-
The frequencies of different inborn errors of metabolism in adult metabolic centres: Report from the SSIEM adult metabolic physicians group
-
Epub 2015/10/10. PMID: 26450566
-
Sirrs S, Hollak C, Merkel M, Sechi A, Glamuzina E, Janssen MC, et al. The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group. JIMD Rep. 2015. Epub 2015/10/10. doi: 10.1007/8904-2015-435 PMID: 26450566.
-
(2015)
JIMD Rep.
-
-
Sirrs, S.1
Hollak, C.2
Merkel, M.3
Sechi, A.4
Glamuzina, E.5
Janssen, M.C.6
-
2
-
-
77955911050
-
Fabry disease
-
PMID: 21092187
-
Germain DP. Fabry disease. Orphanet J Rare Dis. 2010; 5:30. PMID: 21092187. doi: 10.1186/1750-1172-5-30
-
(2010)
Orphanet J Rare Dis.
, vol.5
, pp. 30
-
-
Germain, D.P.1
-
3
-
-
84930011520
-
Long-term effectiveness of agalsidase alfa enzyme replacement in fabry disease: A fabry outcome survey analysis
-
Epub 2016/03/05. [pii]. PMID: 26937390; Pub Med Central PMCID: PMC4750577
-
Beck M, Hughes D, Kampmann C, Larroque S, Mehta A, Pintos-Morell G, et al. Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis. Mol Genet Metab Rep. 2015; 3:21-7. Epub 2016/03/05. [pii]. PMID: 26937390; Pub Med Central PMCID: PMC4750577.
-
(2015)
Mol Genet Metab Rep.
, vol.3
, pp. 21-27
-
-
Beck, M.1
Hughes, D.2
Kampmann, C.3
Larroque, S.4
Mehta, A.5
Pintos-Morell, G.6
-
4
-
-
84873976169
-
Cost-effectiveness of enzyme replacement therapy for Fabry disease
-
Epub 2013/02/21. [pii]. PMID: 23421808; Pub Med Central PMCID: PMC3598841
-
Rombach SM, Hollak CE, Linthorst GE, Dijkgraaf MG. Cost-effectiveness of enzyme replacement therapy for Fabry disease. Orphanet J Rare Dis. 2013; 8:29. Epub 2013/02/21. [pii]. PMID: 23421808; Pub Med Central PMCID: PMC3598841.
-
(2013)
Orphanet J Rare Dis.
, vol.8
, pp. 29
-
-
Rombach, S.M.1
Hollak, C.E.2
Linthorst, G.E.3
Dijkgraaf, M.G.4
-
5
-
-
84954400074
-
Functional and clinical consequences of novel alpha-galactosidase a mutations in fabry disease
-
Epub 2015/09/30. PMID: 26415523
-
Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, et al. Functional and Clinical Consequences of Novel alpha-Galactosidase A Mutations in Fabry Disease. Hum Mutat. 2016; 37(1):43-51. Epub 2015/09/30. doi: 10.1002/humu.22910 PMID: 26415523.
-
(2016)
Hum Mutat.
, vol.37
, Issue.1
, pp. 43-51
-
-
Lukas, J.1
Scalia, S.2
Eichler, S.3
Pockrandt, A.M.4
Dehn, N.5
Cozma, C.6
-
6
-
-
0033018496
-
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
-
PMID: 9883849
-
Fan JQ, Ishii S, Asano N, Suzuki Y. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med. 1999; 5(1):112-5. PMID: 9883849. doi: 10.1038/4801
-
(1999)
Nat Med.
, vol.5
, Issue.1
, pp. 112-115
-
-
Fan, J.Q.1
Ishii, S.2
Asano, N.3
Suzuki, Y.4
-
7
-
-
53049108804
-
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone
-
PMID: 18698230
-
Shin SH, Kluepfel-Stahl S, Cooney AM, Kaneski CR, Quirk JM, Schiffmann R, et al. Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. Pharmacogenet Genomics. 2008; 18(9):773-80. PMID: 18698230. doi: 10.1097/FPC.0b013e32830500f4
-
(2008)
Pharmacogenet Genomics
, vol.18
, Issue.9
, pp. 773-780
-
-
Shin, S.H.1
Kluepfel-Stahl, S.2
Cooney, A.M.3
Kaneski, C.R.4
Quirk, J.M.5
Schiffmann, R.6
-
8
-
-
38949097593
-
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone
-
PMID: 18205205
-
Shimotori M, Maruyama H, Nakamura G, Suyama T, Sakamoto F, Itoh M, et al. Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. Hum Mutat. 2008; 29(2):331. PMID: 18205205. doi: 10.1002/humu.9520
-
(2008)
Hum Mutat.
, vol.29
, Issue.2
, pp. 331
-
-
Shimotori, M.1
Maruyama, H.2
Nakamura, G.3
Suyama, T.4
Sakamoto, F.5
Itoh, M.6
-
9
-
-
63849280910
-
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease
-
PMID: 19287194
-
Park JY, Kim GH, Kim SS, Ko JM, Lee JJ, Yoo HW. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease. Exp Mol Med. 2009; 41(1):1-7. PMID: 19287194. doi: 10.3858/emm.2009.41.1.001
-
(2009)
Exp Mol Med.
, vol.41
, Issue.1
, pp. 1-7
-
-
Park, J.Y.1
Kim, G.H.2
Kim, S.S.3
Ko, J.M.4
Lee, J.J.5
Yoo, H.W.6
-
10
-
-
67349151270
-
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines
-
PMID: 19387866
-
Benjamin ER, Flanagan JJ, Schilling A, Chang HH, Agarwal L, Katz E, et al. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis. 2009; 32(3):424-40. PMID: 19387866. doi: 10.1007/s10545-009-1077-0
-
(2009)
J Inherit Metab Dis.
, vol.32
, Issue.3
, pp. 424-440
-
-
Benjamin, E.R.1
Flanagan, J.J.2
Schilling, A.3
Chang, H.H.4
Agarwal, L.5
Katz, E.6
-
11
-
-
79960844736
-
A pharmacogenetic approach to identify mutant forms of alpha-galactosidase A that respond to a pharmacological chaperone for Fabry disease
-
PMID: 21598360
-
Wu X, Katz E, Della Valle MC, Mascioli K, Flanagan JJ, Castelli JP, et al. A pharmacogenetic approach to identify mutant forms of alpha-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Hum Mutat. 2011; 32(8):965-77. PMID: 21598360. doi: 10.1002/humu.21530
-
(2011)
Hum Mutat.
, vol.32
, Issue.8
, pp. 965-977
-
-
Wu, X.1
Katz, E.2
Della Valle, M.C.3
Mascioli, K.4
Flanagan, J.J.5
Castelli, J.P.6
-
12
-
-
84884664020
-
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease
-
Epub 2013/08/13. [pii]. PMID: 23935525; Pub Med Central PMCID: PMC3731228
-
Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, et al. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS Genet. 2013; 9(8):e1003632. Epub 2013/08/13. [pii]. PMID: 23935525; Pub Med Central PMCID: PMC3731228.
-
(2013)
PLoS Genet.
, vol.9
, Issue.8
, pp. e1003632
-
-
Lukas, J.1
Giese, A.K.2
Markoff, A.3
Grittner, U.4
Kolodny, E.5
Mascher, H.6
-
13
-
-
84954400074
-
Functional and clinical consequences of novel alpha-galactosidase a mutations in fabry disease
-
Epub 2015/09/30. PMID: 26415523
-
Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, et al. Functional and Clinical Consequences of Novel alpha-Galactosidase A Mutations in Fabry Disease. Hum Mutat. 2015. Epub 2015/09/30. doi: 10.1002/humu.22910 PMID: 26415523.
-
(2015)
Hum Mutat.
-
-
Lukas, J.1
Scalia, S.2
Eichler, S.3
Pockrandt, A.M.4
Dehn, N.5
Cozma, C.6
-
14
-
-
62449185295
-
Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease
-
PMID: 19106170
-
Ishii S, Chang HH, Yoshioka H, Shimada T, Mannen K, Higuchi Y, et al. Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease. J Pharmacol Exp Ther. 2009; 328(3):723-31. PMID: 19106170. doi: 10.1124/jpet.108.149054
-
(2009)
J Pharmacol Exp Ther.
, vol.328
, Issue.3
, pp. 723-731
-
-
Ishii, S.1
Chang, H.H.2
Yoshioka, H.3
Shimada, T.4
Mannen, K.5
Higuchi, Y.6
-
15
-
-
77949643182
-
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
-
PMID: 20148966
-
Khanna R, Benjamin ER, Pellegrino L, Schilling A, Rigat BA, Soska R, et al. The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. Febs J. 2010; 277(7):1618-38. PMID: 20148966. doi: 10.1111/j.1742-4658.2010.07588.x
-
(2010)
Febs J.
, vol.277
, Issue.7
, pp. 1618-1638
-
-
Khanna, R.1
Benjamin, E.R.2
Pellegrino, L.3
Schilling, A.4
Rigat, B.A.5
Soska, R.6
-
16
-
-
84869875424
-
Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: Report from two phase 2 clinical studies
-
PMID: 23176611
-
Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, et al. Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis. 2012; 7:91. PMID: 23176611. doi: 10.1186/1750-1172-7-91
-
(2012)
Orphanet J Rare Dis.
, vol.7
, pp. 91
-
-
Germain, D.P.1
Giugliani, R.2
Hughes, D.A.3
Mehta, A.4
Nicholls, K.5
Barisoni, L.6
-
17
-
-
84876084462
-
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects
-
PMID: 23474038
-
Giugliani R, Waldek S, Germain DP, Nicholls K, Bichet DG, Simosky JK, et al. A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects. Mol Genet Metab. 2013; 109(1):86-92. PMID: 23474038. doi: 10.1016/j.ymgme. 2013.01.009
-
(2013)
Mol Genet Metab.
, vol.109
, Issue.1
, pp. 86-92
-
-
Giugliani, R.1
Waldek, S.2
Germain, D.P.3
Nicholls, K.4
Bichet, D.G.5
Simosky, J.K.6
-
18
-
-
79955129897
-
Molecular mechanism for stabilization of a mutant alpha-galactosidase A involving M51I amino acid substitution by imino sugars
-
PMID: 21353612
-
Tsukimura T, Chiba Y, Ohno K, Saito S, Tajima Y, Sakuraba H. Molecular mechanism for stabilization of a mutant alpha-galactosidase A involving M51I amino acid substitution by imino sugars. Mol Genet Metab. 2011; 103(1):26-32. PMID: 21353612. doi: 10.1016/j.ymgme.2011.01.013
-
(2011)
Mol Genet Metab.
, vol.103
, Issue.1
, pp. 26-32
-
-
Tsukimura, T.1
Chiba, Y.2
Ohno, K.3
Saito, S.4
Tajima, Y.5
Sakuraba, H.6
-
19
-
-
79961042765
-
Looking-glass synergistic pharmacological chaperones: DGJ and L-DGJ from the enantiomers of tagatose
-
Epub 2011/07/13. PMID: 21744786
-
Jenkinson SF, Fleet GW, Nash RJ, Koike Y, Adachi I, Yoshihara A, et al. Looking-glass synergistic pharmacological chaperones: DGJ and L-DGJ from the enantiomers of tagatose. Org Lett. 2011; 13 (15):4064-7. Epub 2011/07/13. doi: 10.1021/ol201552q PMID: 21744786.
-
(2011)
Org Lett.
, vol.13
, Issue.15
, pp. 4064-4067
-
-
Jenkinson, S.F.1
Fleet, G.W.2
Nash, R.J.3
Koike, Y.4
Adachi, I.5
Yoshihara, A.6
-
20
-
-
84904555816
-
Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human alpha-galactosidase a: Pharmacological chaperoning efficacy on Fabry disease mutants
-
Epub 2014/05/03 PMID: 24783948
-
Yu Y, Mena-Barragan T, Higaki K, Johnson JL, Drury JE, Lieberman RL, et al. Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human alpha-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants. ACS Chem Biol. 2014; 9(7):1460-9. Epub 2014/05/03 doi: 10.1021/cb500143h PMID: 24783948.
-
(2014)
ACS Chem Biol.
, vol.9
, Issue.7
, pp. 1460-1469
-
-
Yu, Y.1
Mena-Barragan, T.2
Higaki, K.3
Johnson, J.L.4
Drury, J.E.5
Lieberman, R.L.6
-
21
-
-
84924071326
-
Enzyme enhancers for the treatment of fabry and pompe disease
-
Epub 2014/11/21. [pii]. PMID: 25409744
-
Lukas J, Pockrandt AM, Seemann S, Sharif M, Runge F, Pohlers S, et al. Enzyme enhancers for the treatment of fabry and pompe disease. Mol Ther. 2015; 23(3):456-64. Epub 2014/11/21. doi: 10.1038/mt.2014.224 [pii]. PMID: 25409744.
-
(2015)
Mol Ther.
, vol.23
, Issue.3
, pp. 456-464
-
-
Lukas, J.1
Pockrandt, A.M.2
Seemann, S.3
Sharif, M.4
Runge, F.5
Pohlers, S.6
-
22
-
-
84871947340
-
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase
-
Epub 2012/11/20. PMID: 23158495; Pub Med Central PMCID: PMC3547170
-
Bendikov-Bar I, Maor G, Filocamo M, Horowitz M. Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase. Blood Cells Mol Dis. 2013; 50(2):141-5. Epub 2012/11/20. doi: 10.1016/j. bcmd.2012.10.007 [pii]. PMID: 23158495; Pub Med Central PMCID: PMC3547170.
-
(2013)
Blood Cells Mol Dis.
, vol.50
, Issue.2
, pp. 141-145
-
-
Bendikov-Bar, I.1
Maor, G.2
Filocamo, M.3
Horowitz, M.4
-
23
-
-
13844312649
-
ZINC-A free database of commercially available compounds for virtual screening
-
Epub 2005/01/26. PMID: 15667143; Pub Med Central PMCID: PMC1360656
-
Irwin JJ, Shoichet BK. ZINC-A free database of commercially available compounds for virtual screening. J Chem Inf Model. 2005; 45(1):177-82. Epub 2005/01/26. doi: 10.1021/ci049714+ PMID: 15667143; Pub Med Central PMCID: PMC1360656.
-
(2005)
J Chem Inf Model.
, vol.45
, Issue.1
, pp. 177-182
-
-
Irwin, J.J.1
Shoichet, B.K.2
-
24
-
-
84865097398
-
2,6-Dithiopurine, a nucleophilic scavenger, protects against mutagenesis in mouse skin treated in vivo with 2-(chloroethyl) ethyl sulfide, a mustard gas analog
-
Epub 2012/06/27. PMID: 22732900; Pub Med Central PMCID: PMC3422404
-
Boulware S, Fields T, McIvor E, Powell KL, Abel EL, Vasquez KM, et al. 2,6-Dithiopurine, a nucleophilic scavenger, protects against mutagenesis in mouse skin treated in vivo with 2-(chloroethyl) ethyl sulfide, a mustard gas analog. Toxicol Appl Pharmacol. 2012; 263(2):203-9. Epub 2012/06/27. doi: 10.1016/j.taap.2012.06.010S0041-008X(12)00269-4 [pii]. PMID: 22732900; Pub Med Central PMCID: PMC3422404.
-
(2012)
Toxicol Appl Pharmacol.
, vol.263
, Issue.2
, pp. 203-209
-
-
Boulware, S.1
Fields, T.2
McIvor, E.3
Powell, K.L.4
Abel, E.L.5
Vasquez, K.M.6
-
25
-
-
77949368186
-
2,6-Dithiopurine blocks toxicity and mutagenesis in human skin cells exposed to sulfur mustard analogues, 2-chloroethyl ethyl sulfide and 2-chloroethyl methyl sulfide
-
Epub 2010/01/07. PMID: 20050631; Pub Med Central PMCID: PMC2838951
-
Powell KL, Boulware S, Thames H, Vasquez KM, MacLeod MC. 2,6-Dithiopurine blocks toxicity and mutagenesis in human skin cells exposed to sulfur mustard analogues, 2-chloroethyl ethyl sulfide and 2-chloroethyl methyl sulfide. Chem Res Toxicol. 2010; 23(3):497-503. Epub 2010/01/07. doi: 10.1021/tx9001918 PMID: 20050631; Pub Med Central PMCID: PMC2838951.
-
(2010)
Chem Res Toxicol.
, vol.23
, Issue.3
, pp. 497-503
-
-
Powell, K.L.1
Boulware, S.2
Thames, H.3
Vasquez, K.M.4
MacLeod, M.C.5
-
26
-
-
0029154607
-
Toxicity and metabolism in mice of 2,6-dithiopurine, a potential chemopreventive agent
-
Epub 1995/08/01. PMID: 7493553
-
Qing WG, Powell KL, Stoica G, Szumlanski CL, Weinshilboum RM, Macleod MC. Toxicity and metabolism in mice of 2,6-dithiopurine, a potential chemopreventive agent. Drug Metab Dispos. 1995; 23 (8):854-60. Epub 1995/08/01. PMID: 7493553.
-
(1995)
Drug Metab Dispos.
, vol.23
, Issue.8
, pp. 854-860
-
-
Qing, W.G.1
Powell, K.L.2
Stoica, G.3
Szumlanski, C.L.4
Weinshilboum, R.M.5
Macleod, M.C.6
-
27
-
-
84555202420
-
The molecular basis of pharmacological chaperoning in human alpha-galactosidase
-
PMID: 22195554
-
Guce AI, Clark NE, Rogich JJ, Garman SC. The molecular basis of pharmacological chaperoning in human alpha-galactosidase. Chem Biol. 2011; 18(12):1521-6. PMID: 22195554. doi: 10.1016/j. chembiol.2011.10.012
-
(2011)
Chem Biol.
, vol.18
, Issue.12
, pp. 1521-1526
-
-
Guce, A.I.1
Clark, N.E.2
Rogich, J.J.3
Garman, S.C.4
-
28
-
-
58149133913
-
Lead finder: An approach to improve accuracy of protein-ligand docking, binding energy estimation, and virtual screening
-
Epub 2008/11/15. PMID: 19007114
-
Stroganov OV, Novikov FN, Stroylov VS, Kulkov V, Chilov GG. Lead finder: an approach to improve accuracy of protein-ligand docking, binding energy estimation, and virtual screening. J Chem Inf Model. 2008; 48(12):2371-85. Epub 2008/11/15. doi: 10.1021/ci800166p PMID: 19007114.
-
(2008)
J Chem Inf Model.
, vol.48
, Issue.12
, pp. 2371-2385
-
-
Stroganov, O.V.1
Novikov, F.N.2
Stroylov, V.S.3
Kulkov, V.4
Chilov, G.G.5
-
29
-
-
84883257260
-
Enhancing molecular shape comparison by weighted Gaussian functions
-
Epub 2013/07/13. PMID: 23845061
-
Yan X, Li J, Liu Z, Zheng M, Ge H, Xu J. Enhancing molecular shape comparison by weighted Gaussian functions. J Chem Inf Model. 2013; 53(8):1967-78. Epub 2013/07/13. doi: 10.1021/ci300601q PMID: 23845061.
-
(2013)
J Chem Inf Model.
, vol.53
, Issue.8
, pp. 1967-1978
-
-
Yan, X.1
Li, J.2
Liu, Z.3
Zheng, M.4
Ge, H.5
Xu, J.6
-
30
-
-
18244380348
-
High-density miniaturized thermal shift assays as a general strategy for drug discovery
-
Epub 2002/01/15. PMID: 11788061
-
Pantoliano MW, Petrella EC, Kwasnoski JD, Lobanov VS, Myslik J, Graf E, et al. High-density miniaturized thermal shift assays as a general strategy for drug discovery. J Biomol Screen. 2001; 6(6):429-40. Epub 2002/01/15. doi: 10.1089/108705701753364922 PMID: 11788061.
-
(2001)
J Biomol Screen.
, vol.6
, Issue.6
, pp. 429-440
-
-
Pantoliano, M.W.1
Petrella, E.C.2
Kwasnoski, J.D.3
Lobanov, V.S.4
Myslik, J.5
Graf, E.6
-
31
-
-
4143121255
-
Evaluation of fluorescence-based thermal shift assays for hit identification in drug discovery
-
Epub 2004/08/11. PMID: 15301960
-
Lo MC, Aulabaugh A, Jin G, Cowling R, Bard J, Malamas M, et al. Evaluation of fluorescence-based thermal shift assays for hit identification in drug discovery. Anal Biochem. 2004; 332(1):153-9. Epub 2004/08/11. doi: 10.1016/j.ab.2004.04.031 [pii]. PMID: 15301960.
-
(2004)
Anal Biochem.
, vol.332
, Issue.1
, pp. 153-159
-
-
Lo, M.C.1
Aulabaugh, A.2
Jin, G.3
Cowling, R.4
Bard, J.5
Malamas, M.6
-
32
-
-
84940956600
-
Looking for protein stabilizing drugs with thermal shift assay
-
Epub 2015/04/08. PMID: 25845367
-
Andreotti G, Monticelli M, Cubellis MV. Looking for protein stabilizing drugs with thermal shift assay. Drug Test Anal. 2015. Epub 2015/04/08. doi: 10.1002/dta.1798 PMID: 25845367.
-
(2015)
Drug Test Anal.
-
-
Andreotti, G.1
Monticelli, M.2
Cubellis, M.V.3
-
33
-
-
84908398480
-
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation
-
PMID: 24498599
-
Andreotti G, Pedone E, Giordano A, Cubellis MV. Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. Mol Genet Genomic Med. 2013; 1(1):32-44. doi: 10.1002/mgg3.3 PMID: 24498599
-
(2013)
Mol Genet Genomic Med.
, vol.1
, Issue.1
, pp. 32-44
-
-
Andreotti, G.1
Pedone, E.2
Giordano, A.3
Cubellis, M.V.4
-
34
-
-
68849124510
-
Determining protein stability in cell lysates by pulse proteolysis and Western blotting
-
PMID: 19388050
-
Kim MS, Song J, Park C. Determining protein stability in cell lysates by pulse proteolysis and Western blotting. Protein Sci. 2009; 18(5):1051-9. PMID: 19388050. doi: 10.1002/pro.115
-
(2009)
Protein Sci.
, vol.18
, Issue.5
, pp. 1051-1059
-
-
Kim, M.S.1
Song, J.2
Park, C.3
-
35
-
-
84891868024
-
A thermodynamic assay to test pharmacological chaperones for Fabry disease
-
Epub 2013/12/24. PMID: 24361605; Pub Med Central PMCID: PMC3909460
-
Andreotti G, Citro V, Correra A, Cubellis MV. A thermodynamic assay to test pharmacological chaperones for Fabry disease. Biochim Biophys Acta. 2014; 1840(3):1214-24. Epub 2013/12/24. doi: 10.1016/j.bbagen.2013.12.018 [pii]. PMID: 24361605; Pub Med Central PMCID: PMC3909460.
-
(2014)
Biochim Biophys Acta
, vol.1840
, Issue.3
, pp. 1214-1224
-
-
Andreotti, G.1
Citro, V.2
Correra, A.3
Cubellis, M.V.4
-
36
-
-
80054067102
-
Therapy of Fabry disease with pharmacological chaperones: From in silico predictions to in vitro tests
-
Epub 2011/10/19. PMID: 22004918; Pub Med Central PMCID: PMC3216245
-
Andreotti G, Citro V, De Crescenzo A, Orlando P, Cammisa M, Correra A, et al. Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests. Orphanet J Rare Dis. 2011; 6:66. Epub 2011/10/19. doi: 10.1186/1750-1172-6-66 [pii]. PMID: 22004918; Pub Med Central PMCID: PMC3216245.
-
(2011)
Orphanet J Rare Dis.
, vol.6
, pp. 66
-
-
Andreotti, G.1
Citro, V.2
De Crescenzo, A.3
Orlando, P.4
Cammisa, M.5
Correra, A.6
-
37
-
-
0017184389
-
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
-
Epub 1976/05/07. S0003269776699996 [pii]. PMID: 942051
-
Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem. 1976; 72:248-54. Epub 1976/05/07. S0003269776699996 [pii]. PMID: 942051.
-
(1976)
Anal Biochem.
, vol.72
, pp. 248-254
-
-
Bradford, M.M.1
-
38
-
-
79959942908
-
SDM-A server for predicting effects of mutations on protein stability and malfunction
-
(Web Server issue): PMID: 21593128
-
Worth CL, Preissner R, Blundell TL. SDM-a server for predicting effects of mutations on protein stability and malfunction. Nucleic Acids Res. 2011; 39(Web Server issue):W215-22. PMID: 21593128. doi: 10.1093/nar/gkr363
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. W215-W222
-
-
Worth, C.L.1
Preissner, R.2
Blundell, T.L.3
-
39
-
-
33644847172
-
Prediction of protein stability changes for single-site mutations using support vector machines
-
PMID: 16372356
-
Cheng J, Randall A, Baldi P. Prediction of protein stability changes for single-site mutations using support vector machines. Proteins. 2006; 62(4):1125-32. PMID: 16372356. doi: 10.1002/prot.20810
-
(2006)
Proteins
, vol.62
, Issue.4
, pp. 1125-1132
-
-
Cheng, J.1
Randall, A.2
Baldi, P.3
-
40
-
-
33947315642
-
Secondary structure assignment that accurately reflects physical and evolutionary characteristics
-
PMID: 16351757
-
Cubellis MV, Cailliez F, Lovell SC. Secondary structure assignment that accurately reflects physical and evolutionary characteristics. BMC Bioinformatics. 2005; 6 Suppl 4:S8. PMID: 16351757. doi: 10.1186/1471-2105-6-S4-S8
-
(2005)
BMC Bioinformatics
, vol.6
, pp. S8
-
-
Cubellis, M.V.1
Cailliez, F.2
Lovell, S.C.3
-
41
-
-
84881182670
-
Identification and analysis of conserved pockets on protein surfaces
-
Epub 2013/07/17. PMID: 23815589; Pub Med Central PMCID: PMC3633052
-
Cammisa M, Correra A, Andreotti G, Cubellis MV. Identification and analysis of conserved pockets on protein surfaces. BMC Bioinformatics. 2013; 14 Suppl 7:S9. Epub 2013/07/17. doi: 10.1186/1471-2105-14-S7-S9 [pii]. PMID: 23815589; Pub Med Central PMCID: PMC3633052.
-
(2013)
BMC Bioinformatics
, vol.14
, pp. S9
-
-
Cammisa, M.1
Correra, A.2
Andreotti, G.3
Cubellis, M.V.4
-
42
-
-
10344223464
-
Making optimal use of empirical energy functions: Force-field parameterization in crystal space
-
PMID: 15390263
-
Krieger E, Darden T, Nabuurs SB, Finkelstein A, Vriend G. Making optimal use of empirical energy functions: force-field parameterization in crystal space. Proteins. 2004; 57(4):678-83. PMID: 15390263. doi: 10.1002/prot.20251
-
(2004)
Proteins
, vol.57
, Issue.4
, pp. 678-683
-
-
Krieger, E.1
Darden, T.2
Nabuurs, S.B.3
Finkelstein, A.4
Vriend, G.5
-
43
-
-
84927663016
-
Taming molecular flexibility to tackle rare diseases
-
Epub 2015/04/07. PMID: 25841341; Pub Med Central PMCID: PMC4441037
-
Cubellis MV, Baaden M, Andreotti G. Taming molecular flexibility to tackle rare diseases. Biochimie. 2015; 113:54-8. Epub 2015/04/07. doi: 10.1016/j.biochi.2015.03.018 [pii]. PMID: 25841341; Pub Med Central PMCID: PMC4441037.
-
(2015)
Biochimie
, vol.113
, pp. 54-58
-
-
Cubellis, M.V.1
Baaden, M.2
Andreotti, G.3
-
44
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Epub 2010/04/01. PMID: 20354512; Pub Med Central PMCID: PMC2855889
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7(4):248-9. Epub 2010/04/01. doi: 10.1038/nmeth0410-248 [pii]. PMID: 20354512; Pub Med Central PMCID: PMC2855889.
-
(2010)
Nat Methods
, vol.7
, Issue.4
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
-
45
-
-
84880366642
-
Fabry-CEP: A tool to identify Fabry mutations responsive to pharmacological chaperones
-
Epub 2013/07/26. PMID: 23883437; Pub Med Central PMCID: PMC3729670
-
Cammisa M, Correra A, Andreotti G, Cubellis MV. Fabry-CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones. Orphanet J Rare Dis. 2013; 8:111. Epub 2013/07/26. doi: 10.1186/1750-1172-8-111 [pii]. PMID: 23883437; Pub Med Central PMCID: PMC3729670.
-
(2013)
Orphanet J Rare Dis.
, vol.8
, pp. 111
-
-
Cammisa, M.1
Correra, A.2
Andreotti, G.3
Cubellis, M.V.4
-
46
-
-
84976402620
-
Drug repositioning can accelerate discovery of pharmacological chaperones
-
Epub 2015/05/08. [pii]. PMID: 25947946; Pub Med Central PMCID: PMC4429356
-
Hay Mele B, Citro V, Andreotti G, Cubellis MV. Drug repositioning can accelerate discovery of pharmacological chaperones. Orphanet J Rare Dis. 2015; 10:55. Epub 2015/05/08. [pii]. PMID: 25947946; Pub Med Central PMCID: PMC4429356.
-
(2015)
Orphanet J Rare Dis.
, vol.10
, pp. 55
-
-
Hay Mele, B.1
Citro, V.2
Andreotti, G.3
Cubellis, M.V.4
-
47
-
-
0033786533
-
Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes
-
PMID: 10916280
-
Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med. 2000; 48(4):227-35. PMID: 10916280.
-
(2000)
J Investig Med.
, vol.48
, Issue.4
, pp. 227-235
-
-
Ashton-Prolla, P.1
Tong, B.2
Shabbeer, J.3
Astrin, K.H.4
Eng, C.M.5
Desnick, R.J.6
-
48
-
-
78649755176
-
Prediction of the responsiveness to pharmacological chaperones: Lysosomal human alpha-galactosidase, a case of study
-
PMID: 21138548
-
Andreotti G, Guarracino MR, Cammisa M, Correra A, Cubellis MV. Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study. Orphanet J Rare Dis. 2010; 5:36. PMID: 21138548. doi: 10.1186/1750-1172-5-36
-
(2010)
Orphanet J Rare Dis.
, vol.5
, pp. 36
-
-
Andreotti, G.1
Guarracino, M.R.2
Cammisa, M.3
Correra, A.4
Cubellis, M.V.5
-
49
-
-
34548145120
-
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: Biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin
-
PMID: 17555407
-
Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, et al. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. Biochem J. 2007; 406(2):285-95. PMID: 17555407. doi: 10.1042/BJ20070479
-
(2007)
Biochem J.
, vol.406
, Issue.2
, pp. 285-295
-
-
Ishii, S.1
Chang, H.H.2
Kawasaki, K.3
Yasuda, K.4
Wu, H.L.5
Garman, S.C.6
-
50
-
-
0028879273
-
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease
-
Epub 1995/09/25. S0006-291X(85)72416-3 [pii] PMID: 7575533
-
Okumiya T, Ishii S, Takenaka T, Kase R, Kamei S, Sakuraba H, et al. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. Biochem Biophys Res Commun. 1995; 214 (3):1219-24. Epub 1995/09/25. S0006-291X(85)72416-3 [pii] doi: 10.1006/bbrc.1995.2416 PMID: 7575533.
-
(1995)
Biochem Biophys Res Commun.
, vol.214
, Issue.3
, pp. 1219-1224
-
-
Okumiya, T.1
Ishii, S.2
Takenaka, T.3
Kase, R.4
Kamei, S.5
Sakuraba, H.6
-
51
-
-
33745280137
-
High incidence of lateronset fabry disease revealed by newborn screening
-
PMID: 16773563
-
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, et al. High incidence of lateronset fabry disease revealed by newborn screening. Am J Hum Genet. 2006; 79(1):31-40. PMID: 16773563. doi: 10.1086/504601
-
(2006)
Am J Hum Genet.
, vol.79
, Issue.1
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
Tukel, T.4
Thiagarajan, G.5
Sakuraba, H.6
-
52
-
-
0344464744
-
Evolutionary markers in the (beta/alpha)8-barrel fold
-
Epub 2003/12/04. S136759310300139X [pii]. PMID: 14644177
-
Vega MC, Lorentzen E, Linden A, Wilmanns M. Evolutionary markers in the (beta/alpha)8-barrel fold. Curr Opin Chem Biol. 2003; 7(6):694-701. Epub 2003/12/04. S136759310300139X [pii]. PMID: 14644177.
-
(2003)
Curr Opin Chem Biol.
, vol.7
, Issue.6
, pp. 694-701
-
-
Vega, M.C.1
Lorentzen, E.2
Linden, A.3
Wilmanns, M.4
|