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| VELHO,RENATA V.; SPERB-LUDWIG,FERNANDA; SCHWARTZ,IDA V.D.. |
| With the advance and popularization of molecular techniques, the identification of genetic mutations that cause diseases has increased dramatically. Thus, the number of laboratories available to investigate a given disorder and the number of subsequent diagnosis have increased over time. Although it is necessary to identify mutations and provide diagnosis, it is also critical to develop specific therapeutic approaches based on this information. This review aims to highlight recent advances in mutation-targeted therapies with chemicals that mitigate mutational pathology at the molecular level, for disorders that, for the most part, have no effective treatment. Currently, there are several strategies being used to correct different types of mutations,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Antisense oligonucleotide-mediated splicing redirection mutations; Exon skipping; Mismatch repair; Mutation-targeted therapies; Translational readthrough. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652015000301375 |
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| Smalley,Susan V.; Preiss,Yudith; Suazo,José; Vega,Javier Andrés; Angellotti,Isidora; Lagos,Carlos F.; Rivera,Enzo; Kleinsteuber,Karin; Campion,Javier; Martínez,J. Alfredo; Maiz,Alberto; Santos,José Luis. |
| Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol. Clinical characteristics include juvenile cataracts, diarrhea, tendon xanthomas, cognitive impairment and other neurological manifestations. Early diagnosis is critical, because treatment with chenodeoxycholic acid may prevent neurological damage. We studied the CYP27A1 gene in two Chilean CTX patients by sequencing its nine exons, exon-intron boundaries, and cDNA from peripheral blood mononuclear cells. Patient 1 is a compound heterozygote for the novel substitution c.256-1G > T that causes exon 2... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cerebrotendinous Xanthomatosis; Splicing; Mutation; Exon skipping. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100030 |
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