Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Gloria Hsi"'
Publikováno v:
Genomics. 83:473-481
The carboxy-terminus of ATP7B, the protein defective in the copper-transport disorder Wilson disease, was investigated with respect to its role in copper delivery to the ferroxidase ceruloplasmin. We use yeast as a model system to assess the function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcacdb1de6d318b3f4ae3cea560c708c
https://doi.org/10.1016/j.ygeno.2003.08.022
https://doi.org/10.1016/j.ygeno.2003.08.022
Autor:
Gloria Hsi, Diane W. Cox
Publikováno v:
Human Genetics. 114:165-172
The genes for two copper-transporting ATPases, ATP7A and ATP7B, are defective in the heritable disorders of copper imbalance, Menkes disease (MNK) and Wilson disease (WND), respectively. A comparison of the two proteins shows extensive conservation i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7204bb3efcc9da0c78354a159648656c
https://doi.org/10.1007/s00439-003-1045-y
https://doi.org/10.1007/s00439-003-1045-y
Autor:
Gloria Hsi, Diane W. Cox, Matthew M. Chen, Lara M. Cullen, Georgina Macintyre, D. Moira Glerum
Publikováno v:
Human mutation. 29(4)
ATP7B is a copper transporting P-type ATPase defective in the autosomal recessive copper storage disorder, Wilson disease (WND). Functional assessment of variants helps to distinguish normal from disease-causing variants and provides information on i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5baf9bb18983fd7b3602b970e56d46ab
https://pubmed.ncbi.nlm.nih.gov/18203200
https://pubmed.ncbi.nlm.nih.gov/18203200
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