Výsledky vyhledávání - "Justin D. Buttner"

Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

Autor: Michael B. Tropak, Douglas R. Martin, John W. Callahan, Daphne Benedict, Ellen Crushell, Don J. Mahuran, Brigitte Rigat, Justin D. Buttner

Publikováno v: Molecular Genetics and Metabolism. 107:203-212

Deficiencies of lysosomal β-D-galactosidase can result in GM1 gangliosidosis, a severe neurodegenerative disease characterized by massive neuronal storage of GM1 ganglioside in the brain. Currently there are no available therapies that can even slow

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e277ba31a370c0b1fcb1969466e1f803
https://doi.org/10.1016/j.ymgme.2012.06.007

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Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

Autor: G. Kornhaber, Brigitte Rigat, Michael B. Tropak, Deepangi Pandit, Liangiie Tang, Gustavo Maegawa, Maria Fuller, Justin D. Buttner, Yoshitomo Hamuro, Joe T.R. Clarke, Don J. Mahuran

Publikováno v: Journal of Biological Chemistry. 284:23502-23516

Gaucher disease (GD), the most prevalent lysosomal storage disease, is caused by a deficiency of glucocerebrosidase (GCase). The identification of small molecules acting as agents for enzyme enhancement therapy is an attractive approach for treating

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88a279672d869266e51f6bd850551cb2
https://doi.org/10.1074/jbc.m109.012393

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Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β-Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry

Autor: Yoshitomo Hamuro, Brigitte Rigat, Stephen J. Coales, Michael B. Tropak, Eric D. Brown, Don J. Mahuran, Gustavo Maegawa, Justin D. Buttner, Cecilia Murphy, G. Kornhaber, Steven J. Tuske, Jan E. Blanchard

Publikováno v: ChemBioChem. 9:2650-2662

Point mutations in beta-glucocerebrosidase (GCase) can result in a deficiency of both GCase activity and protein in lysosomes thereby causing Gaucher Disease (GD). Enzyme inhibitors such as isofagomine, acting as pharmacological chaperones (PCs), inc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a927cd89c75478a8487aee1b78cb41a
https://doi.org/10.1002/cbic.200800304

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PYRIMETHAMINE AS A POTENTIAL PHARMACOLOGICAL CHAPERONE FOR LATE-ONSET FORMS OF GM2 GANGLIOSIDOSIS

Autor: Fernando Kok, Gustavo Maegawa, Michael B. Tropak, Don J. Mahuran, Justin D. Buttner, Joe T.R. Clarke, Tracy Stockley

Late-onset GM2 gangliosidosis is composed of two related, autosomal recessive, neurodegenerative diseases, both resulting from deficiency of lysosomal, heterodimeric beta-hexosaminidase A (Hex A, alphabeta). Pharmacological chaperones (PC) are small

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818a3c07f129846ec8cd12e8fe94d61c
https://europepmc.org/articles/PMC1851921/

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Cover Picture: Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β-Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry (ChemBioChem 16/2008)

Autor: Cecilia Murphy, Yoshitomo Hamuro, Michael B. Tropak, Don J. Mahuran, G. Kornhaber, Steven J. Tuske, Jan E. Blanchard, Gustavo Maegawa, Eric D. Brown, Justin D. Buttner, Brigitte Rigat, Stephen J. Coales

Publikováno v: ChemBioChem. 9:2549-2549

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2f01b934ee02db8e8566def001226af3
https://doi.org/10.1002/cbic.200890061

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100. Effects of novel β-glucocerebrosidase enhancers and pharmacological chaperones on protein stability/dynamics probed by hydrogen–deuterium exchange mass spectrometry

Autor: Brigitte Rigat, Michael B. Tropak, Eric D. Brown, Don Mahuran, Greg Kornhaber, Justin D. Buttner, Jan Blancharrd, Gustavo Maegawa

Publikováno v: Molecular Genetics and Metabolism. 93:40

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2846c6c8fcfd45d12a77d2582a05587f
https://doi.org/10.1016/j.ymgme.2007.10.112

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