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| Poletto,Edina; Pasqualim,Gabriela; Giugliani,Roberto; Matte,Ursula; Baldo,Guilherme. |
| Abstract Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may lead to significant symptoms and even cardiac failure, which is an important cause of death among patients. Currently available treatments do not completely correct cardiac involvement in the LSDs. Gene therapy has been tested as a therapeutic alternative with promising results for the heart disease. In this review, we present the results of different approaches of gene therapy for LSDs, mainly in animal models, and its effects in the heart, focusing on protocols with cardiac functional analysis. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage disease; Gene therapy; Cardiovascular disease; Animal models; Heart. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200261 |
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| Cunha,Ana Lizia Brito da; Medeiros,Juliana Pinto de; Riet-Correa,Franklin; Gardner,Dale; Chaves,Hisadora Advíncula da Silva; Silva Filho,Givaldo Bom da; Souza,Francisco de Assis Leite; Evêncio Neto,Joaquim; Mendonça,Fábio de Souza. |
| ABSTRACT: Swainsonine-containing plants comprise a group of important poisonous plants in Brazil. This research aimed to characterize both the behavioral changes related to reproduction and appearance of lesions in the reproductive system of bucks poisoned by Ipomoea brasiliana. I. brasiliana plants were collected and administered at a dose of 4g/kg (800µg swainsonine/kg) to two groups of bucks for 45 days. Goats from Group I were euthanized on the 46th day of the experiment, and goats from Group II were euthanized on the 120th day. Group III was composed of goats that did not receive I. brasiliana and were euthanized on the 120th day of the experiment. Reproductive behavioral changes were observed starting on day 20 and were characterized by an absence... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alkaloids; Lysosomal storage disease; Plant poisoning; Ruminants. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782018001000552 |
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| Brusius-Facchin,Ana Carolina; Siebert,Marina; Leão,Delva; Malaga,Diana Rojas; Pasqualim,Gabriela; Trapp,Franciele; Matte,Ursula; Giugliani,Roberto; Leistner-Segal,Sandra. |
| Abstract Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysosomes of most cells, inducing progressive cellular damage and multiple organ failure. DNA samples from 70 patients with biochemical diagnosis of different MPSs genotypes confirmed by Sanger sequencing were used to evaluate a Next Generation Sequencing (NGS) protocol. Eleven genes related to MPSs were divided into three different panels according to the clinical phenotype. This strategy led to the identification of several pathogenic mutations distributed... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage disease; Mucopolysaccharidoses; Next generation sequencing; Target sequence; Mutation detection. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200207 |
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