Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Hui-Hwa Chang"'
Autor:
Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A Sitaraman, Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J Lockhart, Kenneth J Valenzano, Elfrida R Benjamin
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e57631 (2013)
Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3). Migalastat hy
Externí odkaz:
https://doaj.org/article/b1ae5dbd0fb74b4bbf482e8731fdda6c
Autor:
Hui-Hwa Chang1, Asano, Naoki2, Ishii, Satoshi1,3, Ichikawa, Yoshitaka4, Jian-Qiang Fan1 jian-qiang.fan@mssm.edu
Publikováno v:
FEBS Journal. Sep2006, Vol. 273 Issue 17, p4082-4092. 11p. 1 Color Photograph, 1 Diagram, 3 Charts, 1 Graph.
Autor:
C.W. Pine, Hui-Hwa Chang, Adriane Schilling, Robert J. Desnick, Brandon W. Wustman, Elfrida R. Benjamin, John J. Flanagan, Evan Katz, Xiaoyang Wu, Kenneth J. Valenzano, David J. Lockhart, L. Agarwal
Publikováno v:
Journal of Inherited Metabolic Disease. 32:424-440
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene encoding alpha-galactosidase A (alpha-Gal A), with consequent accumulation of its major glycosphingolipid substrate, globotriaosylceramide (GL-3). Over 500 Fabry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d95e2e92ad39ea7c1190e605c293575
https://doi.org/10.1007/s10545-009-1077-0
https://doi.org/10.1007/s10545-009-1077-0
Autor:
Jian-Qiang Fan, Yasunori Higuchi, Hidekatsu Yoshioka, Satoshi Ishii, Kazuaki Mannen, Atsumi Taguchi, Tatsuo Shimada, Hui-Hwa Chang
Publikováno v:
Journal of Pharmacology and Experimental Therapeutics. 328:723-731
Fabry disease is an inborn error of glycosphingolipid metabolism caused by deficiency of alpha-galactosidase A (alpha-Gal A) activity. It has been shown that protein misfolding is primarily responsible for the enzyme deficiency in a large proportion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42abf47c8a127a239e5b9c0e6747e9c1
https://doi.org/10.1124/jpet.108.149054
https://doi.org/10.1124/jpet.108.149054
Autor:
Jian-Qiang Fan, Kunito Kawasaki, Kayo Yasuda, Satoshi Ishii, Hui-Li Wu, Scott C. Garman, Hui-Hwa Chang
Publikováno v:
Biochemical Journal. 406:285-295
Fabry disease is a lysosomal storage disorder caused by the deficiency of alpha-Gal A (alpha-galactosidase A) activity. In order to understand the molecular mechanism underlying alpha-Gal A deficiency in Fabry disease patients with residual enzyme ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e1fa8a09cc07cac7128085ed16756da
https://doi.org/10.1042/bj20070479
https://doi.org/10.1042/bj20070479
Publikováno v:
FEBS Journal. 273:4082-4092
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of glucocerebrosidase. Accumulation of glucosylceramide, primarily in the lysosomes of cells of the reticuloendothelial system, leads to hepatosplen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a33aaffc6d505153e0e577d91e77a54b
https://doi.org/10.1111/j.1742-4658.2006.05410.x
https://doi.org/10.1111/j.1742-4658.2006.05410.x
Publikováno v:
Angewandte Chemie. 117:7616-7619
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e84a076f465673d668db3fca5ce3f4fc
https://doi.org/10.1002/ange.200502662
https://doi.org/10.1002/ange.200502662
Publikováno v:
Angewandte Chemie International Edition. 44:7450-7453
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5bde203b0bedcf0d369b8dd26045bcb
https://doi.org/10.1002/anie.200502662
https://doi.org/10.1002/anie.200502662
Publikováno v:
Protein Expression and Purification. 37:499-506
The lysosomal enzyme alpha-galactosidase A (alpha-Gal A) metabolizes neutral glycosphingolipids that possess alpha-galactoside residues at the non-reducing terminus, and inherited defects in the activity of alpha-Gal A lead to Fabry disease. We descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb16cb595ac5155f76206293b32e94e4
https://doi.org/10.1016/j.pep.2004.07.005
https://doi.org/10.1016/j.pep.2004.07.005
Autor:
Hui-Hwa Chang, Sheela Sitaraman, Pol Boudes, Elfrida R. Benjamin, David J. Lockhart, Atul Mehta, Dominique P. Germain, Roberto Giugliani, Kathy Nicholls, Kenneth J. Valenzano, Derralynn Hughes, Nastry Brignol, Maria Fuller, Richie Khanna, Brandy Young-Gqamana, Rebecca Soska
Publikováno v:
PLoS ONE
PLoS One
PLoS ONE, Vol 8, Iss 3, p e57631 (2013)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
PLoS One
PLoS ONE, Vol 8, Iss 3, p e57631 (2013)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Fabry disease (FD) results from mutations in the gene ( GLA ) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb 3 ). Migalasta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f357e9e804008e2c671b7f32bf8642
https://pubmed.ncbi.nlm.nih.gov/23472096
https://pubmed.ncbi.nlm.nih.gov/23472096