Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Christine R. Kaneski"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100914- (2022)
Fabry disease is an X-linked glycolipid storage disorder caused by mutations in the GLA gene which result in a deficiency in the lysosomal enzyme alpha galactosidase A (AGA). As a result, the glycolipid substrate Gb3 accumulates in critical tissues a
Externí odkaz:
https://doaj.org/article/e33c1150465e45a3b693bb0ea07657a2
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100871- (2022)
Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the lysosomal enzyme alpha-galactosidase A (AGA, EC 3.2.1.22). As a result, the glycolipid substrate, globotriaosylceramide (Gb3) accumulates in various c
Externí odkaz:
https://doaj.org/article/3dea2c5c532f451fa37134d80eb86e5a
Publikováno v:
Journal of Lipid Research, Vol 51, Iss 9, Pp 2808-2817 (2010)
Fabry disease is an X-linked disorder caused by mutations in the GLA gene encoding for α-galactosidase A (AGA, EC 3.2.1.22). Measurement of AGA enzyme activity using cell homogenates can easily identify men with Fabry disease, but in women, the degr
Externí odkaz:
https://doaj.org/article/140f540b3f1c4633aedda7fa464f405a
Publikováno v:
Molecular genetics and metabolism reports. 31
Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the lysosomal enzyme alpha-galactosidase A (AGA, EC 3.2.1.22). As a result, the glycolipid substrate, globotriaosylceramide (Gb3) accumulates in various c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8abe6f3e10a307374c5e68cca22f66ab
https://pubmed.ncbi.nlm.nih.gov/35782611
https://pubmed.ncbi.nlm.nih.gov/35782611
Publikováno v:
Molecular Genetics and Metabolism. 119:144-150
Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the enzyme alpha-galactosidase A (AGA, EC 3.2.1.22). It is a multisystem disease that affects the vascular, cardiac, renal, and nervous systems. One of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b500065d9b71a36a02e715499e6a2442
https://doi.org/10.1016/j.ymgme.2016.07.010
https://doi.org/10.1016/j.ymgme.2016.07.010
Publikováno v:
Journal of Lipid Research, Vol 51, Iss 9, Pp 2808-2817 (2010)
Fabry disease is an X-linked disorder caused by mutations in the GLA gene encoding for alpha-galactosidase A (AGA, EC 3.2.1.22). Measurement of AGA enzyme activity using cell homogenates can easily identify men with Fabry disease, but in women, the d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c12115201c35cd08d5ea14f5408cdeb3
https://doi.org/10.1194/jlr.d007294
https://doi.org/10.1194/jlr.d007294
Autor:
Ron A. Wevers, Christine R. Kaneski, Udo F. H. Engelke, Jiahuan Ding, Julie Barritault, Nathan McNeill, Raphael Schiffmann, Fanny Mochel, Marjan Huizing, Mones Abu-Asab, David R. Adams, François Seguin, Bingzhi Yang, Frans W. Verheijen, William S. Benko, Jerry N. Thompson, Maria Tsokos
Publikováno v:
Annals of Neurology, 65, 6, pp. 753-7
Annals of Neurology, 65, 753-7
Annals of Neurology, 65(6), 753-757. John Wiley & Sons Inc.
Annals of Neurology, 65, 753-7
Annals of Neurology, 65(6), 753-757. John Wiley & Sons Inc.
Contains fulltext : 80646.pdf (Publisher’s version ) (Closed access) We performed high-resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and urine samples of 44 patients with leukodystrophies of unknown cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ec13ae7461e98be4f002f7c42730d09
https://doi.org/10.1002/ana.21624
https://doi.org/10.1002/ana.21624
Autor:
Jane M. Quirk, Sang H. Shin, Gary J. Murray, Raphael Schiffmann, Roscoe O. Brady, Christine R. Kaneski, Adele Cooney, Stefanie Kluepfel-Stahl
Publikováno v:
Pharmacogenetics and Genomics. 18:773-780
To examine the relationship between types and locations of mutations of the enzyme alpha-galactosidase (Gal) A in Fabry disease and the response to the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).T cells grown from normal individuals or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f93721f4429ea468b7a516f024d30d83
https://doi.org/10.1097/fpc.0b013e32830500f4
https://doi.org/10.1097/fpc.0b013e32830500f4
Publikováno v:
Molecular Genetics and Metabolism. 92:137-144
Fabry disease is an inborn error of glycosphingolipid catabolism resulting from a deficiency of lysosomal enzyme alpha-galactosidase A. The major clinical manifestations of the disease, such as stroke, cardiac dysfunction, and renal impairment, are t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d186343c79ba9c9d48461c3f97e2923
https://doi.org/10.1016/j.ymgme.2007.06.003
https://doi.org/10.1016/j.ymgme.2007.06.003
Autor:
Roscoe O. Brady, Jane M. Quirk, Adele Cooney, Raphael Schiffmann, Christine R. Kaneski, Sang-Hoon Shin, Gary J. Murray, Stefanie Kluepfel-Stahl
Publikováno v:
Biochemical and Biophysical Research Communications. 359:168-173
As a prerequisite for clinical trials of pharmacological chaperone therapy (PCT) for Fabry disease, we developed a rapid screening assay for enhancement of endogenous alpha-galactosidase A (alpha-Gal A) in patient-derived cells. We used a T-cell base
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04157babb968966d84dd3741eb6f55f
https://doi.org/10.1016/j.bbrc.2007.05.082
https://doi.org/10.1016/j.bbrc.2007.05.082