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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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| Poswar,Fabiano de Oliveira; Vairo,Filippo; Burin,Maira; Michelin-Tirelli,Kristiane; Brusius-Facchin,Ana Carolina; Kubaski,Francyne; Souza,Carolina Fischinger Moura de; Baldo,Guilherme; Giugliani,Roberto. |
| Abstract Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, membrane-associated transporters or other non-enzymatic proteins. Interest in the LD field is growing each year, as more conditions are, or will soon be treatable. In this article, we review the diagnosis of LDs, from clinical suspicion and screening tests to the identification of enzyme or protein deficiencies and molecular genetic diagnosis. We also cover the treatment approaches that are currently available or in development, including hematopoietic stem cell transplantation, enzyme replacement therapy, small molecules, and gene therapy. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage diseases; Neonatal screening; Hematopoietic stem cell transplantation; Enzyme replacement therapy; Gene therapy. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200165 |
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| Baldo,Guilherme; Ayala,Ana; Melendez,Matias; Nonnemacher,Karina; Lima,Luciane; Segal,Sandra Leistner; Kieling,Carlos; Vieira,Sandra Gonçalves; Ferreira,Cristina Targa; Silveira,Themis Reverbel da; Giugliani,Roberto; Matte,Ursula. |
| Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) deficiency is one of the main genetic causes related to liver disease in children. In SERPINA1 deficiency the most frequent SERPINA1 alleles found are the PI*S and PI*Z alleles. We used the polymerase chain reaction and the amplification created restriction site (ACRS) technique to investigate the prevalence of the PI*S and PI*Z alleles in a group of Brazilian children (n = 200) with liver disease and established the general frequency of the PI*S allele in our population. We found a significant association of the PI*Z allele and liver disease, but no such relationship was found for the PI*S allele. Our results show that SERPINA1 deficiency due to the PI*Z allele,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-1-antitrypsin deficiency; Liver disease; Pediatric patients; SERPINA1. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300005 |
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