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Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia Genet. Mol. Biol.
Rodriguez,Libia M; Giraldo,Mabel C; Velasquez,Laura I; Alvarez,Cristiam M; Garcia,Luis F; Jimenez-Del-Rio,Marlene; Velez-Pardo,Carlos.
A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H63D) mutations in 214 subjects from Antioquia, Colombia. These were 18 individuals with presumed hereditary hemochromatosis (“HH”) and 196 controls. The HLA-B*07 allele was in linkage disequilibrium (LD) with C282Y, while HLA-A*23, A*29, HLA-B*44, and B*49 were in LD with H63D. Altogether, our results show that, although the H63D mutation is more common in the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hereditary hemochromatosis; HLA class I genes; HFE gene; H63D; C282Y.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100008
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Dmp53, basket and drICE gene knockdown and polyphenol gallic acid increase life span and locomotor activity in a Drosophila Parkinson's disease model Genet. Mol. Biol.
Ortega-Arellano,Hector Flavio; Jimenez-Del-Rio,Marlene; Velez-Pardo,Carlos.
Understanding the mechanism(s) by which dopaminergic (DAergic) neurons are eroded in Parkinson's disease (PD) is critical for effective therapeutic strategies. By using the binary tyrosine hydroxylase (TH)-Gal4/UAS-X RNAi Drosophila melanogaster system, we report that Dmp53, basket and drICE gene knockdown in dopaminergic neurons prolong life span (p < 0.05; log-rank test) and locomotor activity (p < 0.05; χ² test) in D. melanogaster lines chronically exposed to (1 mM) paraquat (PQ, oxidative stress (OS) generator) compared to untreated transgenic fly lines. Likewise, knockdown flies displayed higher climbing performance than control flies. Amazingly, gallic acid (GA) significantly protected DAergic neurons, ameliorated life span, and climbing...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Basket; Dmp53; Drice; Drosophila; Paraquat.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400020
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