Zobrazeno 1 - 10
of 13
pro vyhledávání: '"John R. Forbes"'
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1688(1):78-85
Wilson disease is an autosomal disorder of copper transport caused by mutations in the ATP7B gene encoding a copper-transporting P-type ATPase. The Long Evans Cinnamon (LEC) rat is an established animal model for Wilson disease. We have used structur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c622d1797f2141d0004ce992c5a99f46
Autor:
John R. Forbes, Diane W. Cox
Publikováno v:
Human Molecular Genetics. 9:1927-1935
We have previously developed a functional assay in yeast for the copper transporter, ATP7B, defective in Wilson disease (WND). Analysis of WND variant ATP7B proteins revealed that several were able to completely, or nearly completely, complement a mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0717b81d867c948dc679de0351fab0a4
https://doi.org/10.1093/hmg/9.13.1927
https://doi.org/10.1093/hmg/9.13.1927
Publikováno v:
The Journal of Trace Elements in Experimental Medicine. 10:147-152
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1f8aae87ef66aa55aa28a9fac28731e
https://doi.org/10.1002/(sici)1520-670x(1997)10:2<147::aid-jtra12>3.0.co
https://doi.org/10.1002/(sici)1520-670x(1997)10:2<147::aid-jtra12>3.0.co
Publikováno v:
Nature Genetics. 5:327-337
Wilson disease (WD) is an autosomal recessive disorder of copper transport, resulting in copper accumulation and toxicity to the liver and brain. The gene (WD) has been mapped to chromosome 13 q14.3. On yeast artificial chromosomes from this region w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb58abb2b0e9f60a1269137e101c50b0
https://doi.org/10.1038/ng1293-327
https://doi.org/10.1038/ng1293-327
Publikováno v:
Heavy Metals In The Environment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5497201cb9228495c5773369bd25a398
https://doi.org/10.1201/9780203909300.ch16
https://doi.org/10.1201/9780203909300.ch16
Publikováno v:
The Journal of biological chemistry. 274(18)
We have analyzed the functional effect of site-directed mutations and deletions in the copper-binding domain of ATP7B (the copper transporting P-type ATPase defective in Wilson disease) using a yeast complementation assay. We have shown that the sixt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18d4b9125b1640c7c2b7f88a2b98707
https://pubmed.ncbi.nlm.nih.gov/10212214
https://pubmed.ncbi.nlm.nih.gov/10212214
Publikováno v:
Metals and Genetics ISBN: 9781461371403
Two critical genes have been recognized as essential for the export of copper from cells. The proteins encoded by these genes are very similar, yet perform different functions. Between them, they play a role in controlling copper levels in cells, pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87f7a41f792e8c961ae0bdb222629bd6
https://doi.org/10.1007/978-1-4615-4723-5_19
https://doi.org/10.1007/978-1-4615-4723-5_19
Publikováno v:
The Journal of biological chemistry. 272(52)
The putative copper binding domain from the copper-transporting ATPase implicated in Wilson disease (ATP7B) has been expressed and purified as a fusion to glutathione S-transferase. Immobilized metal ion affinity chromatography revealed that the fusi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b173ca790d4482b13bcafbc96b56ebb
https://pubmed.ncbi.nlm.nih.gov/9407118
https://pubmed.ncbi.nlm.nih.gov/9407118
Publikováno v:
Nature genetics. 9(2)
We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B) which is defective in Wilson disease. We have now identified in 58 WND patients, 20 new mutations as well as three of five previously published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02078932b5699154b89e8aefd078a3ec
https://pubmed.ncbi.nlm.nih.gov/7626145
https://pubmed.ncbi.nlm.nih.gov/7626145
Publikováno v:
Nature genetics. 7(4)
The Long-Evans Cinnamon (LEC) rat shows similarity to Wilson disease in many clinical and biochemical features. We have cloned cDNAs for the rat gene (Atp7b) homologous to the human Wilson disease gene (ATP7B) and have used them to identify a partial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce58bcb2010b016307adad2fea7e72a2
https://pubmed.ncbi.nlm.nih.gov/7951327
https://pubmed.ncbi.nlm.nih.gov/7951327