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https://observatorio.fm.usp.br/handle/OPI/5070
Title: | Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene |
Authors: | VILLELA, Darine; KIMURA, Lilian; SCHLESINGER, David; GONCALVES, Amanda; PEARSON, Peter L.; SUEMOTO, Claudia K.; PASQUALUCCI, Carlos; KREPISCHI, Ana Cristina; GRINBERG, Lea T.; ROSENBERG, Carla |
Citation: | GENETICS AND MOLECULAR BIOLOGY, v.36, n.4, p.498-501, 2013 |
Abstract: | Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD. Rare CNVs were identified in six patients (21%), in particular a 40 kb deletion at 17p13.2 encompassing the CTNS gene. Homozygote mutations in CTNS are known to cause cystinosis, a disorder characterized by the intralysosomal accumulation of cystine in all tissues. We present the first CNV results in individuals presenting AGD and a possible candidate gene implicated in the disorder. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MCM Artigos e Materiais de Revistas Científicas - FM/MPT Artigos e Materiais de Revistas Científicas - LIM/22 |
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art_SUEMOTO_Germline_DNA_copy_number_variation_in_individuals_with_2013.PDF | publishedVersion (English) | 935.82 kB | Adobe PDF | View/Open |
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