Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Brigitte Rigat"'
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e24951 (2011)
Heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase (N-acetyltransferase, EC 2.3.1.78) is an integral lysosomal membrane protein containing 11 transmembrane domains, encoded by the HGSNAT gene. Deficiencies of N-acetyltransferase lead to mucop
Externí odkaz:
https://doaj.org/article/6330484e8ffc47cd878e57fd6079ff9c
Autor:
Francesca Lugani, Lorenzo Minchiotti, Patrick Van den Abeele, Valérie Layet, Marie-Sophie Gavard, Brigitte Rigat, Gianluca Caridi, Monica Galliano, Monica Campagnoli
Publikováno v:
European journal of medical genetics. 62(2)
Congenital analbuminemia (OMIM # 616000) is an extremely rare autosomal recessive disorder, caused by variations in the albumin gene (ALB), which is generally thought to be a relatively benign condition in adulthood, but seems to be potentially life
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33ec856ab820e55e5aea1437d9e35fc7
https://pubmed.ncbi.nlm.nih.gov/29981851
https://pubmed.ncbi.nlm.nih.gov/29981851
Autor:
Brigitte Rigat, Matthew R. Smith, Hee-Jong Hwang, Virender S. Aulakh, Don J. Mahuran, Sayuri Yonekawa, Jianmin Zhang, Marco A. Ciufolini, Michael B. Tropak
Publikováno v:
Journal of Medicinal Chemistry. 58:4483-4493
In order to identify structural features of pyrimethamine (5-(4-chlorophenyl)-6-ethylpyrimidine-2,4-diamine) that contribute to its inhibitory activity (IC50 value) and chaperoning efficacy toward β-N-acetylhexosaminidase, derivatives of the compoun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7e3126c7608f824e21f6110970c582
https://doi.org/10.1021/jm5017895
https://doi.org/10.1021/jm5017895
Publikováno v:
Analytical Biochemistry. 458:20-26
GM2 gangliosidosis is a group of inherited neurodegenerative disorders resulting primarily from the excessive accumulation of GM2 gangliosides (GM2) in neuronal cells. As biomarkers for categorising patients and monitoring the effectiveness of develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::787afa0c5d76626bf345be3a89d5bf24
https://doi.org/10.1016/j.ab.2014.04.018
https://doi.org/10.1016/j.ab.2014.04.018
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
https://doi.org/10.1016/j.ymgme.2012.06.007
Autor:
Mustafa Kamani, Beth Binnington, Murugesapillai Mylvaganam, C A Lingwood, Brigitte Rigat, Robert Tian
Publikováno v:
Journal of Biological Chemistry. 286:21413-21426
Mammalian glycosphingolipid (GSL) precursor monohexosylceramides are either glucosyl- or galactosylceramide (GlcCer or GalCer). Most GSLs derive from GlcCer. Substitution of the GSL fatty acid with adamantane generates amphipathic mimics of increased
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3971b1f68a51fcabd41ed13a219ed44f
https://doi.org/10.1074/jbc.m110.207670
https://doi.org/10.1074/jbc.m110.207670
Autor:
Katrin Fantur, Gerit Pototschnig, Arnold E. Stütz, Don J. Mahuran, Georg Schitter, Stephen G. Withers, Robert Saf, Brigitte Rigat, Andreas Steiner, Carina Illaszewicz, Eduard Paschke, Chris A. Tarling, Elisabeth Scheucher, Michael B. Tropak, Tanja M. Wrodnigg, Martin Thonhofer
Publikováno v:
ChemBioChem. 11:2026-2033
A collection of new reversible glycosidase inhibitors of the iminoalditol type featuring N-substituents containing perfluorinated regions has been prepared for evaluation of physicochemical, biochemical and diagnostic properties. The vast variety of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eda450c4e2fda5d86b0d879d023eedc
https://doi.org/10.1002/cbic.201000192
https://doi.org/10.1002/cbic.201000192
Autor:
Hadis Nafar, Brigitte Rigat, Allan C. Powe, Jessie Feng, Yi Lun, Elfrida R. Benjamin, Richie Khanna, Adriane Schilling, David J. Lockhart, Lee Pellegrino, Brian Ranes, Raphael Schiffmann, Kenneth J. Valenzano, Brandon Wustman, Don J. Mahuran, David Palling, Rebecca Soska
Publikováno v:
FEBS Journal. 277:1618-1638
Gaucher disease is caused by mutations in the gene that encodes the lysosomal enzyme acid beta-glucosidase (GCase). We have shown previously that the small molecule pharmacological chaperone isofagomine (IFG) binds and stabilizes N370S GCase, resulti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61cc1df58a4007668f182b233a500bec
https://doi.org/10.1111/j.1742-4658.2010.07588.x
https://doi.org/10.1111/j.1742-4658.2010.07588.x
Publikováno v:
Biochemical and Biophysical Research Communications. 385:576-580
Platelet activating factor (PAF), an endogenous bioactive phospholipid, has been documented as a pivotal mediator in the inflammatory cascade underlying the pathogenesis of many diseases including necrotizing enterocolitis. Much effort has been direc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d52c6f7ed3c1efefd21398f6e6ad577d
https://doi.org/10.1016/j.bbrc.2009.05.116
https://doi.org/10.1016/j.bbrc.2009.05.116
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
https://doi.org/10.1074/jbc.m109.012393