Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Panos A. Ioannou"'
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e93307 (2014)
Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression a
Externí odkaz:
https://doaj.org/article/8bb4f058c31b43c498cbc20e4eb6433a
Autor:
Lingli Li, Lucille Voullaire, Chiranjeevi Sandi, Mark A Pook, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e55940 (2013)
Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression a
Externí odkaz:
https://doaj.org/article/6c818b2755be434799b34faa3af0db95
Autor:
Novita Puspasari, Simone M Rowley, Lavinia Gordon, Paul J Lockhart, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e22001 (2011)
BACKGROUND: Friedreich ataxia (FRDA) is the most common form of hereditary ataxia characterized by the presence of a GAA trinucleotide repeat expansion within the first intron of the FXN gene. The expansion inhibits FXN gene expression resulting in a
Externí odkaz:
https://doaj.org/article/7e18d190ce6f465fa8bda9c0ff9b9657
Autor:
Anita F. Quigley, Robert M. I. Kapsa, K Steeper, Panos A. Ioannou, Andrew J. Kornberg, Edward Byrne, Jim Vadolas
Publikováno v:
Gene Therapy. 28:470-470
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41f0b398b60eac44074b908c1c7d3b84
https://doi.org/10.1038/s41434-020-00217-7
https://doi.org/10.1038/s41434-020-00217-7
Autor:
Jean Francois Benoist, Ruimei Hu, Joseph P. Sarsero, Jim Vadolas, Leonie R. Wood, Nicole E. Buck, Mahmoud Shekari Khaniani, Heidi Peters, Panos A. Ioannou, Hady Wardan, Lingli Li
Publikováno v:
The Journal of Gene Medicine. 11:361-369
Background Methylmalonic aciduria is an autosomal recessive inborn error of the propionate metabolic pathway. One form of this disorder is caused by mutations in methylmalonyl-coenzyme A mutase (MCM), resulting in reduced levels of enzyme activity. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fc7ad7720238c5c380fcb017169739
https://doi.org/10.1002/jgm.1297
https://doi.org/10.1002/jgm.1297
Autor:
Samuel McLenachan, Kerry J. Fowler, Lucille Voullaire, Yona Goldshmit, Panos A. Ioannou, Timothy P. Holloway, Joseph P. Sarsero, Ann M. Turnley
Publikováno v:
Transgenic Research. 17:1103-1116
The development of homologous recombination methods for the precise modification of bacterial artificial chromosomes has allowed the introduction of disease causing mutations or fluorescent reporter genes into human loci for functional studies. We ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3fb9e04299b5ea131025d7d2cacc626
https://doi.org/10.1007/s11248-008-9210-7
https://doi.org/10.1007/s11248-008-9210-7
Autor:
Brigitte Sturm, Joseph P. Sarsero, Ursula Rauen, Barbara Scheiber-Mojdehkar, Ute Bistrich, Herbert de Groot, Panos A. Ioannou, Matthias Schranzhofer, Frank Petrat
Publikováno v:
Journal of Biological Chemistry. 280:6701-6708
Friedreich's ataxia (FRDA) is caused by low expression of frataxin, a small mitochondrial protein. Studies with both yeast and mammals have suggested that decreased frataxin levels lead to elevated intramitochondrial concentrations of labile (chelata
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d4a808c58df70819ac50b2ee1113a6c
https://doi.org/10.1074/jbc.m408717200
https://doi.org/10.1074/jbc.m408717200
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
Publikováno v:
neurogenetics. 5:1-8
Friedreich ataxia is the most-common inherited ataxia. Since the causative genetic basis was described in 1996, much has been learnt about the pathogenesis from human, animal, and yeast studies. This has led to the development of rational therapeutic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::203d01717c3f53b55a64d83a1ea2bf17
https://doi.org/10.1007/s10048-003-0170-z
https://doi.org/10.1007/s10048-003-0170-z
Autor:
Fiona K. Rae, Megan H. Lindsay, Elida Szilagi, Edmund Ui Hang Sim, Aaron G. Smith, Panos A. Ioannou, Melissa H. Little
Publikováno v:
Oncogene. 21:2948-2960
The Wilms' tumour suppressor gene, WT1, encodes multiple nuclear protein isoforms, all containing four C-terminal zinc finger motifs. WT1 proteins can both activate and repress putative target genes in vitro, although the in vivo relevance of these p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3009747260bf86715bb12f519657ad68
https://doi.org/10.1038/sj.onc.1205373
https://doi.org/10.1038/sj.onc.1205373