-
1
-
-
0014216741
-
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency
-
Brady, R., Gal, A. E., Bradley, R. M., Marternsson, E., Warshaw, A. L., and Laster, L. (1967) Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency N. Eng. J. Med. 276, 1163-1167
-
(1967)
N. Eng. J. Med.
, vol.276
, pp. 1163-1167
-
-
Brady, R.1
Gal, A.E.2
Bradley, R.M.3
Marternsson, E.4
Warshaw, A.L.5
Laster, L.6
-
2
-
-
0000889058
-
Galactosidase A deficiency: Fabry disease
-
In (Scriver, C. R. Beaudet, A. L. Sly, W. S. and Valle, D. Ed.), pp, McGraw-Hill, New York.
-
Desnick, R. J., Ioannou, Y. A., and Eng, C. M. (2001) Galactosidase A deficiency: Fabry disease. In The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., Ed.), pp 3733-3774, McGraw-Hill, New York.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
3
-
-
12144287518
-
Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
-
DOI 10.1111/j.1365-2362.2004.01309.x
-
Metha, A., Ricci, R., Widmer, U., Dehout, D., Garcia de Lorenzo, A., Kampmann, C., Linhart, A., Suncer-Plassmann, G., Ries, M., and Beck, M. (2004) Fabry disease defined baseline clinical manifestations of 366 patients in the Fabry Outcome Survey Eur. J. Clin. Invest. 34, 236-242 (Pubitemid 38406640)
-
(2004)
European Journal of Clinical Investigation
, vol.34
, Issue.3
, pp. 236-242
-
-
Mehta, A.1
Ricci, R.2
Widmer, U.3
Dehout, F.4
Garcia De Lorenzo, A.5
Kampmann, C.6
Linhart, A.7
Sunder-Plassmann, G.8
Ries, M.9
Beck, M.10
-
4
-
-
77955373796
-
Autophagosome maturation is impaired in Fabry disease
-
Chévrier, M., Brakch, N., Céline, L., Genty, D., Ramdani, Y., Moll, S., Djavaheri-Mergny, M., Brasse-Lagnel, C., Annie Laquerrière, A. L., Barbey, F., and Bekri, S. (2010) Autophagosome maturation is impaired in Fabry disease Autophagy 6, 589-599
-
(2010)
Autophagy
, vol.6
, pp. 589-599
-
-
Chévrier, M.1
Brakch, N.2
Céline, L.3
Genty, D.4
Ramdani, Y.5
Moll, S.6
Djavaheri-Mergny, M.7
Brasse-Lagnel, C.8
Annie Laquerrière, A.L.9
Barbey, F.10
Bekri, S.11
-
5
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
DOI 10.1086/504601
-
Spada, M., Pagliardini, S., Yasuda, M., Tukel, T., Thiagarajan, G., Sakuraba, H., Ponzone, A., and Desnick, R. J. (2006) High incidence of later-onset Fabry disease revealed by newborn screening Am. J. Hum. Genet. 79, 31-40 (Pubitemid 43927374)
-
(2006)
American Journal of Human Genetics
, 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
Ponzone, A.7
Desnick, R.J.8
-
6
-
-
73349136303
-
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
-
Hwu, W. L., Chien, Y. H., Lee, N. C., Chiang, S. C., Dobrovolny, R., Huang, A. C., Yeh, H. Y., Chao, M. C., Lin, S. J., Kitagawa, T., Desnick, R. J., and Hsu, L. W. (2009) Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry Hum. Mutat. 30, 1397-1405
-
(2009)
Hum. Mutat.
, vol.30
, pp. 1397-1405
-
-
Hwu, W.L.1
Chien, Y.H.2
Lee, N.C.3
Chiang, S.C.4
Dobrovolny, R.5
Huang, A.C.6
Yeh, H.Y.7
Chao, M.C.8
Lin, S.J.9
Kitagawa, T.10
Desnick, R.J.11
Hsu, L.W.12
-
7
-
-
66649137718
-
Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability
-
Lieberman, R. L., D'aquino, J. A., Ringe, D., and Petsko, G. A. (2009) Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability Biochemistry 48, 4816-4827
-
(2009)
Biochemistry
, vol.48
, pp. 4816-4827
-
-
Lieberman, R.L.1
D'Aquino, J.A.2
Ringe, D.3
Petsko, G.A.4
-
8
-
-
77950511400
-
Catalytic mechanism of human α-galactosidase
-
Guce, A. I., Clark, N. E., Salgado, E. N., Ivanen, D. R., Kulminskaya, A. A., Brumer, H., 3rd, and Garman, S. C. (2010) Catalytic mechanism of human α-galactosidase J. Biol. Chem. 285, 3625-3632
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 3625-3632
-
-
Guce, A.I.1
Clark, N.E.2
Salgado, E.N.3
Ivanen, D.R.4
Kulminskaya, A.A.5
-
9
-
-
33947592355
-
Structure-function relationship in α-galactosidase A
-
Garman, S. C. (2007) Structure-function relationship in α-galactosidase A Acta Paediatr. Suppl. 96, 6-16
-
(2007)
Acta Paediatr. Suppl.
, vol.96
, pp. 6-16
-
-
Garman, S.C.1
-
10
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease
-
DOI 10.1056/NEJM200107053450102
-
Eng, C. M., Guffon, N., Wilcox, W. R., Germain, D. P., Lee, P., Waldek, S., Caplan, L., Linthorst, G. E., and Desnick, R. J. (2001) Safety and efficacy of recombinant human α-galactosidase A. replacement therapy in Fabry's disease N. Eng. J. Med. 345, 9-16 (Pubitemid 32634266)
-
(2001)
New England Journal of Medicine
, vol.345
, Issue.1
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
Caplan, L.7
Linthorst, G.E.8
Desnick, R.J.9
-
11
-
-
0035816007
-
Enzyme replacement therapy in fabry disease a randomized controlled trial
-
Schiffmann, R., Kopp, J. B., Austin, H. A., 3rd, Sabnis, S., Moore, D. F., Weibel, T., Balow, J. E., and Brady, R. O. (2001) Enzyme replacement therapy in Fabry disease: A randomized controlled trial JAMA 285, 2743-2749 (Pubitemid 32525371)
-
(2001)
Journal of the American Medical Association
, vol.285
, Issue.21
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
Sabnis, S.4
Moore, D.F.5
Weibel, T.6
Balow, J.E.7
Brady, R.O.8
-
12
-
-
57449085309
-
A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on the efficacy during enzyme replacement therapy for Fabry disease
-
Bénichou, B., Goyal, S., Sung, C., Norfleet, A. M., and O'Brien, F. (2009) A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on the efficacy during enzyme replacement therapy for Fabry disease Mol. Genet. Metab. 96, 4-12
-
(2009)
Mol. Genet. Metab.
, vol.96
, pp. 4-12
-
-
Bénichou, B.1
Goyal, S.2
Sung, C.3
Norfleet, A.M.4
O'Brien, F.5
-
13
-
-
84876225140
-
Pharmacological chaperones as therapeutics for lysosomal storage diseases
-
Boyd, R. E., Lee, G., Rybczynski, P., Benjamin, E. R., Khanna, R., Wustman, B. A., and Valenzano, K. J. (2013) Pharmacological chaperones as therapeutics for lysosomal storage diseases J. Med. Chem. 56, 2705-2725
-
(2013)
J. Med. Chem.
, vol.56
, pp. 2705-2725
-
-
Boyd, R.E.1
Lee, G.2
Rybczynski, P.3
Benjamin, E.R.4
Khanna, R.5
Wustman, B.A.6
Valenzano, K.J.7
-
14
-
-
84884269282
-
Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis
-
Higaki, K., Ninomiya, H., Suzuki, Y., and Nanba, E. (2013) Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis Future Med. Chem. 5, 1551-1558
-
(2013)
Future Med. Chem.
, vol.5
, pp. 1551-1558
-
-
Higaki, K.1
Ninomiya, H.2
Suzuki, Y.3
Nanba, E.4
-
15
-
-
0033018496
-
Accelerated transport and maturation of lysosomal α-galactosidase A in fabry lymphoblasts by an enzyme inhibitor
-
DOI 10.1038/4801
-
Fan, J. Q., Ishii, S., Asano, N., and Suzuki, Y. (1999) Accelerated transport and maturation of lysosomal α-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor Nat. Med. 5, 112-115 (Pubitemid 29051008)
-
(1999)
Nature Medicine
, vol.5
, Issue.1
, pp. 112-115
-
-
Fan, J.-Q.1
Ishii, S.2
Asano, N.3
Suzuki, Y.4
-
16
-
-
79960844736
-
A pharmacogenic approach to identify mutant forms of α- galactosidase A that respond to a pharmacological chaperone for Fabry disease
-
Wu, X., Katz, E., Della Valle, M. C., Mascioli, K., Flanagan, J. J., Castelli, J. P., Schiffmann, R., Boudes, P., Lockhart, D. J., Valenzano, K. J., and Benjamin, E. R. (2011) A pharmacogenic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease Hum. Mutat. 32, 965-977
-
(2011)
Hum. Mutat.
, vol.32
, 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
Schiffmann, R.7
Boudes, P.8
Lockhart, D.J.9
Valenzano, K.J.10
Benjamin, E.R.11
-
17
-
-
74149090458
-
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease
-
Khanna, R., Soska, R., Lun, Y., Feng, J., Frascella, M., Young, B., Brignol, N., Pellegrino, L., Sitaraman, S. A., Desnick, R. J., Benjamin, E. R., Lockhart, D. J., and Valenzano, K. J. (2010) The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease Mol. Ther. 18, 23-33
-
(2010)
Mol. Ther.
, vol.18
, pp. 23-33
-
-
Khanna, R.1
Soska, R.2
Lun, Y.3
Feng, J.4
Frascella, M.5
Young, B.6
Brignol, N.7
Pellegrino, L.8
Sitaraman, S.A.9
Desnick, R.J.10
Benjamin, E.R.11
Lockhart, D.J.12
Valenzano, K.J.13
-
18
-
-
84869875424
-
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: Report from two phase 2 clinical studies
-
Germain, D. P., Giugliani, R., Hughes, D. A., Mehta, A., Nicholls, K., Barisoni, L., Jennette, C. J., Bragat, A., Castelli, J., Sitaraman, S., Lockhart, D. J., and Boudes, P. F. (2012) Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: Report from two phase 2 clinical studies Orphanet J. Rare Dis. 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
Jennette, C.J.7
Bragat, A.8
Castelli, J.9
Sitaraman, S.10
Lockhart, D.J.11
Boudes, P.F.12
-
19
-
-
3242800983
-
M1- gangliosidosis
-
DOI 10.1073/pnas.2536657100
-
Matsuda, J., Suzuki, O., Oshima, A., Yamamoto, Y., Noguchi, A., Takimoto, K., Itoh, M., Matsuzaki, Y., Yasuda, Y., Ogawa, S., Sakata, Y., Nanba, E., Higaki, K., Ogawa, Y., Tominaga, L., Ohno, K., Iwasaki, H., Watanabe, H., Brady, R. O., and Suzuki, Y. (2003) Chemical chaperone therapy for brain pathology in GM1-gangliosidosis Proc. Natl. Acad. Sci. U.S.A. 100, 15912-15917 (Pubitemid 38021089)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.26
, pp. 15912-15917
-
-
Matsuda, J.1
Suzuki, O.2
Oshima, A.3
Yamamoto, Y.4
Noguchi, A.5
Takimoto, K.6
Itoh, M.7
Matsuzaki, Y.8
Yasuda, Y.9
Ogawa, S.10
Sakata, Y.11
Nanba, E.12
Higaki, K.13
Ogawa, Y.14
Tominaga, L.15
Ohno, K.16
Iwasaki, H.17
Watanabe, H.18
Brady, R.O.19
Suzuki, Y.20
more..
-
20
-
-
84875223589
-
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1-gangliosidosis
-
Takai, T., Higaki, K., Aguilar-Moncayo, M., Mena-Barragán, T., Hirano, Y., Yura, K., Yu, L., Ninomiya, H., García-Moreno, M. I., Sakakibara, Y., Ohno, K., Nanba, E., Ortiz Mellet, C., García Fernández, J. M., and Suzuki, Y. (2013) A bicyclic 1- deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1-gangliosidosis Mol. Ther. 21, 526-532
-
(2013)
Mol. Ther.
, vol.21
, pp. 526-532
-
-
Takai, T.1
Higaki, K.2
Aguilar-Moncayo, M.3
Mena-Barragán, T.4
Hirano, Y.5
Yura, K.6
Yu, L.7
Ninomiya, H.8
García-Moreno, M.I.9
Sakakibara, Y.10
Ohno, K.11
Nanba, E.12
Ortiz Mellet, C.13
García Fernández, J.M.14
Suzuki, Y.15
-
21
-
-
84859439223
-
Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice
-
Benjamin, E. R., Khanna, R., Schilling, A., Flanagan, J. J., Pellegrino, L. J., Brignol, N., Lun, Y., Guillen, D., Ranes, B. E., Frascella, M., Soska, R., Feng, J., Dungan, L., Young, B., Lockhart, D. J., and Valenzano, K. J. (2012) Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice Mol. Ther. 20, 717-726
-
(2012)
Mol. Ther.
, vol.20
, pp. 717-726
-
-
Benjamin, E.R.1
Khanna, R.2
Schilling, A.3
Flanagan, J.J.4
Pellegrino, L.J.5
Brignol, N.6
Lun, Y.7
Guillen, D.8
Ranes, B.E.9
Frascella, M.10
Soska, R.11
Feng, J.12
Dungan, L.13
Young, B.14
Lockhart, D.J.15
Valenzano, K.J.16
-
22
-
-
0033936361
-
In vitro inhibition and intracellular enhancement of lysosomal α- galactosidase a activity in fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives
-
DOI 10.1046/j.1432-1327.2000.01457.x
-
Asano, N., Ishii, S., Kizu, H., Ikeda, K., Yasuda, K., Kato, A., Martin, O. R., and Fan, J. Q. (2000) In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives Eur. J. Biochem. 267, 4179-4186 (Pubitemid 30436114)
-
(2000)
European Journal of Biochemistry
, vol.267
, Issue.13
, pp. 4179-4186
-
-
Asano, N.1
Ishii, S.2
Kizu, H.3
Ikeda, K.4
Yasuda, K.5
Kato, A.6
Martin, O.R.7
Fan, J.-Q.8
-
23
-
-
84555202420
-
The molecular basis of pharmacological chaperoning in human α-galactosidase
-
Guce, A. I., Clark, N. E., Rogich, J. J., and Garman, S. C. (2011) The molecular basis of pharmacological chaperoning in human α-galactosidase Chem. Biol. 18, 1521-1526
-
(2011)
Chem. Biol.
, vol.18
, pp. 1521-1526
-
-
Guce, A.I.1
Clark, N.E.2
Rogich, J.J.3
Garman, S.C.4
-
24
-
-
84876793140
-
Chaperone therapy update: Fabry disease, GM1-gangliosidosis, and Gaucher disease
-
Suzuki, Y. (2013) Chaperone therapy update: Fabry disease, GM1-gangliosidosis, and Gaucher disease Brain Dev. 35, 515-523
-
(2013)
Brain Dev.
, vol.35
, pp. 515-523
-
-
Suzuki, Y.1
-
25
-
-
84863083762
-
Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase
-
Patnaik, S., Zheng, W., Choi, J. H., Motabar, O., Southall, N., Westbroek, W., Lea, W. A., Velayati, A., Goldin, E., Sidransky, E., Leister, W., and Marugan, J. J. (2012) Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase J. Med. Chem. 55, 5734-5748
-
(2012)
J. Med. Chem.
, vol.55
, pp. 5734-5748
-
-
Patnaik, S.1
Zheng, W.2
Choi, J.H.3
Motabar, O.4
Southall, N.5
Westbroek, W.6
Lea, W.A.7
Velayati, A.8
Goldin, E.9
Sidransky, E.10
Leister, W.11
Marugan, J.J.12
-
26
-
-
84870609952
-
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine
-
Porto, C., Ferrara, M. C., Meli, M., Acampora, E., Avolio, V., Rosa, M., Cobucci-Ponzano, B., Colombo, G., Moracci, M., Andria, G., and Parenti, G. (2012) Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine Mol. Ther. 20, 2201-2211
-
(2012)
Mol. Ther.
, vol.20
, pp. 2201-2211
-
-
Porto, C.1
Ferrara, M.C.2
Meli, M.3
Acampora, E.4
Avolio, V.5
Rosa, M.6
Cobucci-Ponzano, B.7
Colombo, G.8
Moracci, M.9
Andria, G.10
Parenti, G.11
-
27
-
-
0022814210
-
Synthesis of 5-amino-5-deoxy- d -galactopyranose and 1,5-dideoxy-1,5- imino- d -galactitol, and their inhibition of α- And β- d -galactosidases
-
Legler, G. and Pohl, S. (1986) Synthesis of 5-amino-5-deoxy- d -galactopyranose and 1,5-dideoxy-1,5-imino- d -galactitol, and their inhibition of α- and β- d -galactosidases Carbohydr. Res. 155, 119-129
-
(1986)
Carbohydr. Res.
, vol.155
, pp. 119-129
-
-
Legler, G.1
Pohl, S.2
-
28
-
-
77958029276
-
Quantitative correlation of physical and chemical properties with chemical structure: Utility for prediction
-
Karelson, M., Kahn, I., and Dobchev, D. A. (2010) Quantitative correlation of physical and chemical properties with chemical structure: Utility for prediction Chem. Rev. 110, 5714-5789
-
(2010)
Chem. Rev.
, vol.110
, pp. 5714-5789
-
-
Karelson, M.1
Kahn, I.2
Dobchev, D.A.3
-
29
-
-
79959689098
-
Chemical chaperone therapy: Chaperone effect on mutant enzyme and cellular pathophysiology of β-galactosidase deficiency
-
Higaki, K., Li, L., Bahrudin, U., Okuzawa, S., Takamura, A., Yamamoto, K., Adachi, K., Paraguison, R. C., Takai, T., Ikehata, H., Tominaga, L., Hisatome, I., Iida, M., Ogawa, S., Matsuda, J., Ninomiya, H., Sakakibara, Y., Ohno, K., Suzuki, Y., and Nanba, E. (2011) Chemical chaperone therapy: Chaperone effect on mutant enzyme and cellular pathophysiology of β-galactosidase deficiency Hum. Mutat. 32, 843-852
-
(2011)
Hum. Mutat.
, vol.32
, pp. 843-852
-
-
Higaki, K.1
Li, L.2
Bahrudin, U.3
Okuzawa, S.4
Takamura, A.5
Yamamoto, K.6
Adachi, K.7
Paraguison, R.C.8
Takai, T.9
Ikehata, H.10
Tominaga, L.11
Hisatome, I.12
Iida, M.13
Ogawa, S.14
Matsuda, J.15
Ninomiya, H.16
Sakakibara, Y.17
Ohno, K.18
Suzuki, Y.19
Nanba, E.20
more..
-
30
-
-
84862156347
-
Tuning glycosidase inhibition through aglycone interactions: Pharmacological chaperones for Fabry disease and GM1 gangliosidosis
-
Aguilar-Moncayo, M., Takai, T., Higaki, K., Mena-Barragán, T., Hirano, Y., Yura, K., Li, L., Yu, Y., Ninomiya, H., García-Moreno, M. I., Ishii, S., Sakakibara, Y., Ohno, K., Nanba, E., Ortiz Mellet, C., García Fernández, J. M., and Suzuki, Y. (2012) Tuning glycosidase inhibition through aglycone interactions: Pharmacological chaperones for Fabry disease and GM1 gangliosidosis Chem. Commun. 48, 6514-6516
-
(2012)
Chem. Commun.
, vol.48
, pp. 6514-6516
-
-
Aguilar-Moncayo, M.1
Takai, T.2
Higaki, K.3
Mena-Barragán, T.4
Hirano, Y.5
Yura, K.6
Li, L.7
Yu, Y.8
Ninomiya, H.9
García-Moreno, M.I.10
Ishii, S.11
Sakakibara, Y.12
Ohno, K.13
Nanba, E.14
Ortiz Mellet, C.15
García Fernández, J.M.16
Suzuki, Y.17
-
31
-
-
27244456033
-
Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses
-
Butters, T. D., Dwek, R. A., and Platt, F. M. (2005) Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses Glycobiology 15, 42R-52R
-
(2005)
Glycobiology
, vol.15
-
-
Butters, T.D.1
Dwek, R.A.2
Platt, F.M.3
-
32
-
-
38049025671
-
Lysosomal storage diseases as disorders of autophagy
-
Settembre, C., Fraldi, A., Rubinsztein, D. C., and Ballabio, A. (2008) Lysosomal storage diseases as disorders of autophagy Autophagy 4, 113-114
-
(2008)
Autophagy
, vol.4
, pp. 113-114
-
-
Settembre, C.1
Fraldi, A.2
Rubinsztein, D.C.3
Ballabio, A.4
-
33
-
-
74149091308
-
Functional studies of new GLA gene mutations leading to conformational Fabry disease
-
Filoni, C., Caciotti, A., Carraresi, L., Cavicchi, C., Parini, R., Antuzzi, D., Zampetti, A., Feriozzi, S., Poisetti, P., Garman, S. C., Guerrini, R., Zammarchi, E., Donati, M. A., and Morrone, A. (2010) Functional studies of new GLA gene mutations leading to conformational Fabry disease Biochim. Biophys. Acta 1802, 247-252
-
(2010)
Biochim. Biophys. Acta
, vol.1802
, pp. 247-252
-
-
Filoni, C.1
Caciotti, A.2
Carraresi, L.3
Cavicchi, C.4
Parini, R.5
Antuzzi, D.6
Zampetti, A.7
Feriozzi, S.8
Poisetti, P.9
Garman, S.C.10
Guerrini, R.11
Zammarchi, E.12
Donati, M.A.13
Morrone, A.14
-
34
-
-
84865250447
-
α-Galactosidase A aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants
-
Siekierska, A., De Baets, G., Reumers, J., Gallardo, R., Rudyak, S., Broersen, K., Couceiro, J., Van Durme, J., Schymkowitz, J., and Rousseau, F. (2012) α-Galactosidase A aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants J. Biol. Chem. 287, 28386-28397
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 28386-28397
-
-
Siekierska, A.1
De Baets, G.2
Reumers, J.3
Gallardo, R.4
Rudyak, S.5
Broersen, K.6
Couceiro, J.7
Van Durme, J.8
Schymkowitz, J.9
Rousseau, F.10
-
35
-
-
50249175120
-
Chemical and biological approaches synergize to ameliorate protein-misfolding disease
-
Mu, T. W., Ong, D. S., Wang, Y. J., Balch, W. E., Yates, J. R., 3rd, Segatori, L., and Kelly, J. W. (2008) Chemical and biological approaches synergize to ameliorate protein-misfolding disease Cell 134, 769-781
-
(2008)
Cell
, vol.134
, pp. 769-781
-
-
Mu, T.W.1
Ong, D.S.2
Wang, Y.J.3
Balch, W.E.4
Yates III, J.R.5
Segatori, L.6
Kelly, J.W.7
-
36
-
-
77953019684
-
Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: Safety, pharmacokinetics, and ammonia control
-
Lee, B., Rhead, W., Diaz, G. A., Scharschmidt, B. F., Mian, A., Shchelochkov, O., Marier, J. F., Beliveau, M., Mauney, J., Dickinson, K., Martinez, A., Gargosky, S., Mokhtarani, M., and Berry, S. A. (2010) Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: Safety, pharmacokinetics, and ammonia control Mol. Genet. Metab. 100, 221-228
-
(2010)
Mol. Genet. Metab.
, vol.100
, pp. 221-228
-
-
Lee, B.1
Rhead, W.2
Diaz, G.A.3
Scharschmidt, B.F.4
Mian, A.5
Shchelochkov, O.6
Marier, J.F.7
Beliveau, M.8
Mauney, J.9
Dickinson, K.10
Martinez, A.11
Gargosky, S.12
Mokhtarani, M.13
Berry, S.A.14
-
37
-
-
33846239420
-
Complementary effects of HDAC inhibitor 4-PB on gap junction communication and cellular export mechanisms support restoration of chemosensitivity of PDAC cells
-
DOI 10.1038/sj.bjc.6603511, PII 6603511
-
Ammerpohl, O., Trauzold, A., Schniewind, B., Griep, U., Pilarsky, C., Grutzmann, R., Saeger, H. D., Janssen, O., Sipos, B., Kloppel, G., and Kalthoff, H. (2007) Complementary effects on HDAC inhibitor 4-PB on gap junction communication and cellular export mechanisms support restoration of chemosensitivity of PDAC cells Br. J. Cancer 96, 73-81 (Pubitemid 46094642)
-
(2007)
British Journal of Cancer
, vol.96
, Issue.1
, pp. 73-81
-
-
Ammerpohl, O.1
Trauzold, A.2
Schniewind, B.3
Griep, U.4
Pilarsky, C.5
Grutzmann, R.6
Saeger, H.-D.7
Janssen, O.8
Sipos, B.9
Kloppel, G.10
Kalthoff, H.11
-
38
-
-
79959861121
-
An "excerbate-reverse" strategy in yeast identifies histon deacetylase inhibitors as a correction for cholesterol and sphingolipid transport defects in human Niemann-Pick type C disease
-
Munkacsi, A. B., Chen, F. W., Brinkman, M. A., Higaki, K., Gutiérrez, G. D., Chaudhari, J., Layer, J. V., Tong, A., Bard, M., Boone, C., Ioannou, Y. A., and Sturley, S. L. (2011) An "excerbate-reverse" strategy in yeast identifies histon deacetylase inhibitors as a correction for cholesterol and sphingolipid transport defects in human Niemann-Pick type C disease J. Biol. Chem. 286, 23842-23851
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 23842-23851
-
-
Munkacsi, A.B.1
Chen, F.W.2
Brinkman, M.A.3
Higaki, K.4
Gutiérrez, G.D.5
Chaudhari, J.6
Layer, J.V.7
Tong, A.8
Bard, M.9
Boone, C.10
Ioannou, Y.A.11
Sturley, S.L.12
-
39
-
-
84862965909
-
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease
-
Lu, J., Yang, C., Chen, M., Ye, D. Y., Lonser, R. R., Brady, R. O., and Zhuang, Z. (2011) Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease Proc. Natl. Acad. Sci. U.S.A. 108, 21200-21205
-
(2011)
Proc. Natl. Acad. Sci. U.S.A.
, vol.108
, pp. 21200-21205
-
-
Lu, J.1
Yang, C.2
Chen, M.3
Ye, D.Y.4
Lonser, R.R.5
Brady, R.O.6
Zhuang, Z.7
-
40
-
-
77951014824
-
Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as d -galactosidase inhibitors
-
Schitter, G., Scheucher, E., Steiner, A. J., Stütz, A. E., Thonhofer, M., Tarling, C. A., Withers, S. G., Wicki, J., Fantur, K., Paschke, E., Mahuran, D. J., Rigat, B. A., Tropak, M., and Wrodnigg, T. M. (2010) Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as d -galactosidase inhibitors Beilstein J. Org. Chem. 6, 21
-
(2010)
Beilstein J. Org. Chem.
, vol.6
, pp. 21
-
-
Schitter, G.1
Scheucher, E.2
Steiner, A.J.3
Stütz, A.E.4
Thonhofer, M.5
Tarling, C.A.6
Withers, S.G.7
Wicki, J.8
Fantur, K.9
Paschke, E.10
Mahuran, D.J.11
Rigat, B.A.12
Tropak, M.13
Wrodnigg, T.M.14
-
41
-
-
0025170955
-
Use of the human elongation factor 1α promoter as a versatile and efficient expression system
-
DOI 10.1016/0378-1119(90)90091-5
-
Kim, D. W., Uetsuki, T., Kaziro, Y., Yamaguchi, N., and Sugano, S. (1990) Use the human elongation factor 1 α promotor as a versatile and efficient expression system Gene 91, 217-223 (Pubitemid 20269505)
-
(1990)
Gene
, vol.91
, Issue.2
, pp. 217-223
-
-
Kim, D.W.1
Uetsuki, T.2
Kaziro, Y.3
Yamaguchi, N.4
Sugano, S.5
-
42
-
-
34548145120
-
Mutant α-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: Biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin
-
DOI 10.1042/BJ20070479
-
Ishii, S., Chang, H. H., Kawasaki, K., Yasuda, K., Wu, H. L., Garman, S. C., and Fan, J. Q. (2007) Mutant α-galactosidase A enzymes identified in Fabry patients with residual enzyme activity: Biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin Biochem. J. 406, 285-295 (Pubitemid 47310959)
-
(2007)
Biochemical Journal
, 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
Fan, J.-Q.7
-
43
-
-
79956283304
-
Cyclodextrin-mediated crystallization of acid β-glucosidase in complex with amphiphilic bicyclic nojirimycin analogues
-
Brumshtein, B., Aguilar-Moncayo, M., Benito, J. M., García Fernández, J. M., Silman, I., Shaaltiel, Y., Aviezer, D., Sussman, J. L., Futerman, A. H., and Ortiz Mellet, C. (2011) Cyclodextrin-mediated crystallization of acid β-glucosidase in complex with amphiphilic bicyclic nojirimycin analogues Org. Biomol. Chem. 9, 4160-4167
-
(2011)
Org. Biomol. Chem.
, vol.9
, pp. 4160-4167
-
-
Brumshtein, B.1
Aguilar-Moncayo, M.2
Benito, J.M.3
García Fernández, J.M.4
Silman, I.5
Shaaltiel, Y.6
Aviezer, D.7
Sussman, J.L.8
Futerman, A.H.9
Ortiz Mellet, C.10
-
44
-
-
0031059866
-
Processing of X-ray diffraction data collected in oscillation mode
-
DOI 10.1016/S0076-6879(97)76066-X
-
Otwinowski, Z. and Minor, W. (1997) Processing of X-ray diffraction data collected in oscillation mode Methods Enzymol. 276, 307-326 (Pubitemid 27085611)
-
(1997)
Methods in Enzymology
, vol.276
, pp. 307-326
-
-
Otwinowski, Z.1
Minor, W.2
-
45
-
-
34447508216
-
Phaser crystallographic software
-
DOI 10.1107/S0021889807021206, PII S0021889807021206
-
McCoy, A., Grosse-Kunstleve, R. W., Adams, P. D., Winn, M. D., Storoni, L. C., and Read, R. J. (2007) Phaser crystallographic software J. Appl. Crystallogr. 40, 658-674 (Pubitemid 47080256)
-
(2007)
Journal of Applied Crystallography
, vol.40
, Issue.4
, pp. 658-674
-
-
McCoy, A.J.1
Grosse-Kunstleve, R.W.2
Adams, P.D.3
Winn, M.D.4
Storoni, L.C.5
Read, R.J.6
-
46
-
-
76449098262
-
PHENIX: A comprehensive Python-based system for macromolecular structure solution
-
Adams, P. D., Afonine, P. V., Bunkóczi, G., Chen, V. B., Davis, I. W., Echols, N., Headd, J. J., Hung, L. W., Kapral, G. J., Grosse-Kunstleve, R. W., McCoy, A. J., Moriarty, N. W., Oeffner, R., Read, R. J., Richardson, D. C., Richardson, J. S., Terwilliger, T. C., and Zwart, P. H. (2010) PHENIX: A comprehensive Python-based system for macromolecular structure solution Acta Crystallogr. D Biol. Crystallogr. 66, 213-221
-
(2010)
Acta Crystallogr. D Biol. Crystallogr.
, vol.66
, pp. 213-221
-
-
Adams, P.D.1
Afonine, P.V.2
Bunkóczi, G.3
Chen, V.B.4
Davis, I.W.5
Echols, N.6
Headd, J.J.7
Hung, L.W.8
Kapral, G.J.9
Grosse-Kunstleve, R.W.10
McCoy, A.J.11
Moriarty, N.W.12
Oeffner, R.13
Read, R.J.14
Richardson, D.C.15
Richardson, J.S.16
Terwilliger, T.C.17
Zwart, P.H.18
-
48
-
-
70349597601
-
Electronic Ligand Builder and Optimization Workbench (eLBOW): A tool for ligand coordinate and restraint generation
-
Moriarty, N. W., Grosse-Kunstleve, R. W., and Adams, P. D. (2009) Electronic Ligand Builder and Optimization Workbench (eLBOW): A tool for ligand coordinate and restraint generation Acta Crystallogr. D Biol. Crystallogr. 65, 1074-1080
-
(2009)
Acta Crystallogr. D Biol. Crystallogr.
, vol.65
, pp. 1074-1080
-
-
Moriarty, N.W.1
Grosse-Kunstleve, R.W.2
Adams, P.D.3
|