Zobrazeno 1 - 10
of 145
pro vyhledávání: '"R O Brady"'
Autor:
R D Shamburek, P G Pentchev, L A Zech, J Blanchette-Mackie, E D Carstea, J M VandenBroek, P S Cooper, E B Neufeld, R D Phair, H B Brewer, Jr, R O Brady, C C Schwartz
Publikováno v:
Journal of Lipid Research, Vol 38, Iss 12, Pp 2422-2435 (1997)
Niemann-Pick C disease (NP-C) is a rare inborn error of metabolism with hepatic involvement and neurological sequelae that usually manifest in childhood. Although in vitro studies have shown that the lysosomal distribution of LDL-derived cholesterol
Externí odkaz:
https://doaj.org/article/55306360d4814767a73496af294e7219
Publikováno v:
Journal of Lipid Research, Vol 28, Iss 8, Pp 968-972 (1987)
The time course of the clearance from the blood and the tissue localization of [14C]L-glucosylceramide, a nonmetabolizable enantiomorph of D-glucosylceramide that accumulates in Gaucher's disease, has been determined. 14C-labeled L-glucosylceramide i
Externí odkaz:
https://doaj.org/article/902d6f4e7faf4a08ba10db1613fe031e
Publikováno v:
Neurochemical research. 27(4)
Enzyme replacement therapy has been shown to be particularly effective for patients with type 1 (non-neuronopathic) Gaucher disease. However, intravenously administered glucocerebrosidase does not reverse or halt the progression of brain damage in pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9965b95625e65d5c17788dcf59dd238
https://pubmed.ncbi.nlm.nih.gov/11958535
https://pubmed.ncbi.nlm.nih.gov/11958535
Autor:
Y, Itoh, T, Esaki, M, Cook, P, Qasba, K, Shimoji, J, Alroy, R O, Brady, L, Sokoloff, D F, Moore
Publikováno v:
Journal of neurochemistry. 79(6)
Fabry disease is an X-linked lysosomal disorder characterized by deficient alpha-galactosidase A activity and intracellular accumulations of glycosphingolipids, mainly globotriaosylceramide (Gb3). Clinically, patients occasionally present CNS dysfunc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6f820c4712eeff1ead9f1b3adc6d4da
https://pubmed.ncbi.nlm.nih.gov/11752062
https://pubmed.ncbi.nlm.nih.gov/11752062
Publikováno v:
Human mutation. 15(2)
Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A. The mutations responsible for Fabry disease are diverse and include large rearrangements as well as single base substitutions, and they are di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a031ef658dd23531322e5df21b4fbf9a
https://pubmed.ncbi.nlm.nih.gov/10649504
https://pubmed.ncbi.nlm.nih.gov/10649504
Publikováno v:
Neurochemical research. 24(2)
Gaucher disease is caused by insufficient activity of the enzyme glucocerebrosidase. Great benefit has been obtained through enzyme replacement therapy for patients with type 1 (non-neuronopathic) Gaucher disease. In contrast, inconsistent effects of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6d2bd358205610b950446bf33a2cf26
https://pubmed.ncbi.nlm.nih.gov/9972879
https://pubmed.ncbi.nlm.nih.gov/9972879
Autor:
R O, Brady
Publikováno v:
Bailliere's clinical haematology. 10(4)
A patient with what is now known as Gaucher's disease was first described by P.C.E. Gaucher in 1882. Fifty years later, Aghion reported that patients with this condition accumulated a sphingoglycolipid called glucocerebroside. Considerably more time
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::39b4b90a3f66cfbcd7ee8ded24a7abaf
https://pubmed.ncbi.nlm.nih.gov/9497855
https://pubmed.ncbi.nlm.nih.gov/9497855
Infantile Pompe disease is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase, a glycogen-degrading lysosomal enzyme. We constructed a plasmid containing a 5'-shortened human acid alpha-glucosidase cDNA driven by the cyt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4ae0ab0f247169854309549cd623437
https://europepmc.org/articles/PMC40179/
https://europepmc.org/articles/PMC40179/
Autor:
R O, Brady
Publikováno v:
EXS. 71
Genes that have an actual or a potential relationship to alcoholism may be useful targets for therapy. Candidate genes are considered in relationship to family studies, differences in alcohol preferences in various rodent strains, biochemical reactio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::127d0ca446aa603480e4705c10f84b50
https://pubmed.ncbi.nlm.nih.gov/8032169
https://pubmed.ncbi.nlm.nih.gov/8032169
Autor:
M, Horowitz, G, Tzuri, N, Eyal, A, Berebi, E H, Kolodny, R O, Brady, N W, Barton, A, Abrahamov, A, Zimran
Publikováno v:
American journal of human genetics. 53(4)
The frequency of nine different mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of non-Jewish origin. DN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e326c32c71a5c51cdfd1280e136d501
https://pubmed.ncbi.nlm.nih.gov/8213821
https://pubmed.ncbi.nlm.nih.gov/8213821