Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Graziela S Ribas"'
Autor:
Desiree Marchetti, Graziela S Ribas, Bruna Donida, Verônica Brito, Dinara J Moura, Daniella M Coelho, Andryele Z Machado, Rejane G Kessler, Adriana S Coitinho, Carmen R Vargasa
Publikováno v:
Clinical and Biomedical Research, Vol 41, Iss 1 (2021)
Introduction: Several studies in the literature have evaluated the role of oxidative stress and adjuvant therapies for X-linked adrenoleukodystrophy (X-ALD). Here, we investigated whether n-acetyl-L-cysteine (NAC) and rosuvastatin (RSV) could influen
Externí odkaz:
https://doaj.org/article/076332be0af649009133447b398dea58
Autor:
Carmen Regla Vargas, Bruna Donida, Helen Tais da Rosa, Roberto Giugliani, Graziela S. Ribas, Jenifer Saffi, Marion Deon, Carlos Eduardo Diaz Jacques, Paula R. Manini, Desirèe Padilha Marchetti, Dinara Jaqueline Moura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 46-53 (2017)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Morquio A disease (Mucopolysaccharidosis type IVA, MPS IVA) is one of the 11 mucopolysaccharidoses (MPSs), a heterogeneous group of inherited lysosomal storage disorders (LSDs) caused by deficiency in enzymes need to degrade glycosaminoglycans (GAGs)
Autor:
Bruna Donida, Carlos Eduardo Diaz Jacques, Caroline Paula Mescka, Desirèe Padilha Marchetti, Graziela S. Ribas, Carmen Regla Vargas, Daiane Rodrigues, Roberto Giugliani
Publikováno v:
Clinica Chimica Acta. 466:46-53
Lysosomal Storage Disorders (LSD) comprise a heterogeneous group of >50 genetic disorders caused by mutations in genes that encode lysosomal enzymes, transport proteins or other gene products essential for a functional lysosomal system. As a result,
Autor:
Janaína Kolling, Tatiane Grazieli Hammerschimidt, Bruna Donida, Adriana Simon Coitinho, Camila Simioni Vanzin, Caroline Paula Mescka, Angela T. S. Wyse, Emilene B. S. Scherer, Laura Vilarinho, Moacir Wajner, Graziela S. Ribas, Carmen Regla Vargas, Célia Nogueira
Publikováno v:
Cellular and Molecular Neurobiology. 35:899-911
Cystathionine-β-synthase (CBS) deficiency is the main cause of homocystinuria. Homocysteine (Hcy), methionine, and other metabolites of Hcy accumulate in the body of affected patients. Despite the fact that thromboembolism represents the major cause
Autor:
Moacir Wajner, Caroline Paula Mescka, Angela Sitta, Carmen Regla Vargas, Graziela S. Ribas, Alethea Gatto Barschak
Publikováno v:
Cellular and Molecular Neurobiology. 34:157-165
Maple syrup urine disease (MSUD) is a metabolic disease caused by a deficiency in the branched-chain α-keto acid dehydrogenase complex, leading to the accumulation of branched-chain keto acids and their corresponding branched-chain amino acids (BCAA
Autor:
Carmen Regla Vargas, Camila Simioni Vanzin, Cristina Brinckmann Oliveira Netto, Roberto Giugliani, Graziela S. Ribas, Laura Bannach Jardim, Marion Deon, Alethea Gatto Barschak, Daiane Rodrigues, Giovana Brondani Biancini, Vanusa Manfredini
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1822:226-232
Fabry disease is an X-linked inborn error of glycosphingolipid catabolism due to deficient activity of α-galactosidase A that leads to accumulation of the enzyme substrates, mainly globotriaosylceramide (Gb3), in body fluids and lysosomes of many ce
Autor:
Carlos Alberto Yasin Wayhs, Giovana Brondani Biancini, Angela Sitta, Graziela S. Ribas, Moacir Wajner, Carmen Regla Vargas, Caroline Paula Mescka
Publikováno v:
Cellular and Molecular Neurobiology. 32:77-82
Propionic (PA) and methylmalonic (MMA) acidurias are inherited disorders caused by deficiency of propionyl-CoA carboxylase and methylmalonyl-CoA mutase, respectively. Affected patients present acute metabolic crises in the neonatal period and long-te
Autor:
Helena Maria Tannhauser Barros, Angela Sitta, Giovana Brondani Biancini, Marion Deon, Graziela S. Ribas, Maurício Schüler Nin, Carlos Alberto Yasin Wayhs, Vanusa Manfredini, Carmen Regla Vargas, Camila Simioni Vanzin
Publikováno v:
Mutation Research/Genetic Toxicology and Environmental Mutagenesis. 703:187-190
Diabetes mellitus (DM) is a chronic hyperglycemic state. DM may be associated with moderate cognitive deficits and neurophysiologic/structural changes in the brain (diabetic encephalopathy). Psychiatric manifestations seem to accompany this encephalo
Autor:
Moacir Wajner, Carmen Regla Vargas, Camila Simioni Vanzin, Vanusa Manfredini, Carlos Alberto Yasin Wayhs, Rosana B. Vieira, Giovana Brondani Biancini, Graziela S. Ribas, Maria Gilda De Marco
Publikováno v:
Mutation Research/Genetic Toxicology and Environmental Mutagenesis. 702:123-128
Propionic acidemia (PAemia) and methylmalonic acidemia (MMAemia) are inborn errors of propionate metabolism characterized by the accumulation of, respectively, propionic and l-methylmalonic acids (and their metabolites) in the blood and tissues of af
Autor:
Vanusa Manfredini, Marion Deon, Graziela S. Ribas, Moacir Wajner, Carmen Regla Vargas, Camila Simioni Vanzin, Jurema F. de Mari, Carlos Alberto Yasin Wayhs, Giovana Brondani Biancini, Angela Sitta
Publikováno v:
International Journal of Developmental Neuroscience. 28:127-132
Disorders of propionate metabolism are autosomal recessive diseases clinically characterized by acute metabolic crises in the neonatal period and long-term neurological deficits whose pathophysiology is not completely established. There are increasin