Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sophie Gazeas"'
Autor:
Katrina J. Allen, Prithi S. Bhathal, Daphne M. Y. Cheah, Sophie Gazeas, Julian F.B. Mercer, Nicole E. Buck
Publikováno v:
BioMetals. 19:555-564
The toxic milk (tx) mouse is a rodent model for Wilson disease, an inherited disorder of copper overload. Here we assessed the effect of copper accumulation in the tx mouse on zinc and iron metabolism. Copper, zinc and iron concentrations were determ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6ebbf69e41424ea471bff6f8658c343
https://doi.org/10.1007/s10534-005-5918-5
https://doi.org/10.1007/s10534-005-5918-5
Autor:
Suthat Fucharoen, Kerry J. Fowler, Faten Zaibak, Duangporn Jamsai, Robert Williamson, Jim Vadolas, Sophie Gazeas, Wantana Khongnium, Panayiotis A. Ioannou, Lucille Voullaire
Publikováno v:
Genomics. 85:453-461
Accurate animal models that recapitulate the phenotype and genotype of patients with beta-thalassemia would enable the development of a range of possible therapeutic approaches. Here we report the generation of a mouse model carrying the codons 41-42
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60a31ea8f7747c3920e9ca077818380
https://doi.org/10.1016/j.ygeno.2004.11.016
https://doi.org/10.1016/j.ygeno.2004.11.016
Autor:
Lingli Li, Robert Williamson, Kerry J. Fowler, Timothy P. Holloway, Michel Koenig, Lucille Voullaire, David R. Thorburn, Denise M. Kirby, Sophie Gazeas, Panos A. Ioannou, Surindar S Cheema, Adam Galle, Joseph P. Sarsero
Publikováno v:
Mammalian Genome. 15:370-382
Three independent transgenic mouse lines were generated with the human Friedreich ataxia gene, FRDA, in an 188-kb bacterial artificial chromosome (BAC) genomic sequence. Three copies of the transgene per diploid mouse genome were integrated in a sing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38080592727ca6c9e113345b357e9f43
https://doi.org/10.1007/s00335-004-3019-3
https://doi.org/10.1007/s00335-004-3019-3
Autor:
Kerry J. Fowler, Joseph P. Sarsero, Panayiotis A. Ioannou, Stephen G. Kahler, Mikhail Nefedov, Heidi Peters, James Pitt, Sophie Gazeas
Publikováno v:
Journal of Biological Chemistry. 278:52909-52913
Methylmalonic aciduria is a human autosomal recessive disorder of organic acid metabolism resulting from a functional defect in the activity of the enzyme methylmalonyl-CoA mutase. Based upon the homology of the human mutase locus with the mouse locu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aa06dc74fc5596fb9077ea0c74ac48e
https://doi.org/10.1074/jbc.m310533200
https://doi.org/10.1074/jbc.m310533200
Autor:
Joseph P. Sarsero, Timothy P. Holloway, Panos A. Ioannou, Ivan Bertoncello, Kerry J. Fowler, Sophie Gazeas, Lucille Voullaire, Lingli Li, Samuel McLenachan
Publikováno v:
Mammalian genome : official journal of the International Mammalian Genome Society. 16(4)
Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by a GAA trinucleotide expansion in the first intron of the Friedreich ataxia gene (FRDA) that causes reduced synthesis of frataxin, a mitochondrial protein likely to be in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30e5ab3897e96865cffc72ce837a436b
https://pubmed.ncbi.nlm.nih.gov/15965784
https://pubmed.ncbi.nlm.nih.gov/15965784
Autor:
Robert Williamson, Daphne M. Y. Cheah, Yolanda Deal, Nicole E. Pettigrew-Buck, Sophie Gazeas, Katrina J. Allen, Julian F.B. Mercer, Paul F.A. Wright
Publikováno v:
Journal of gastroenterology and hepatology. 19(11)
BACKGROUND AND AIM - The toxic milk (tx) mouse is a non-fatal animal model for the metabolic liver disorder, Wilson's disease. The tx mouse has a mutated gene for a copper-transporting protein, causing early copper accumulation in the liver and late
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::752718298a10a8e444c911430d1d0f6b
https://pubmed.ncbi.nlm.nih.gov/15482536
https://pubmed.ncbi.nlm.nih.gov/15482536
Publikováno v:
Copper Transport and Its Disorders ISBN: 9781461372042
There are three recognized X-linked copper deficiency disorders in humans: classical Menkes disease (MD), mild Menkes disease and occipital horn syndrome (OHS, also known as X-linked cutis laxa). Since the features of these diseases are so distinct,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d41917afdb5730cc761c8cc54a461b41
https://doi.org/10.1007/978-1-4615-4859-1_8
https://doi.org/10.1007/978-1-4615-4859-1_8
Autor:
Joseph P. Sarsero, Lingli Li, Timothy P. Holloway, Sophie Gazeas, Lucille Voullaire, Ivan Bertoncello, Panos A. Ioannou, Kerry J. Fowler, Samuel McLenachan
Publikováno v:
Molecular Therapy. 11:S373-S374
The development of Genomic Reporters Assays (GRAs), in which a reporter fusion is made to a gene in the context of its entire genomic locus on a Bacterial Artificial Chromosome (BAC) clone, preserves the normal location and spacing of many cis-acting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::987b105b8c9dfde88630cb229f1a6c7e
https://doi.org/10.1016/j.ymthe.2005.07.510
https://doi.org/10.1016/j.ymthe.2005.07.510
Autor:
Heidi Peters, Robert Williamson, Lucille Voullaire, Sophie Gazeas, Faten Zaibak, Jim Vadolas, Kerry J. Fowler, Panayiotis A. Ioannou, Suthat Fucharoen, Duangporn Jamsai
Publikováno v:
Genomics. (3):309-315
Hemoglobin E (HbE) is caused by a G--A mutation at codon 26 of the beta-globin gene, which substitutes Glu--Lys. This mutation gives rise to functional but unstable hemoglobin and activates a cryptic splice site causing mild anemia. HbE reaches a car
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cca0e4e13d4e8252855cc542b5bfba4e