Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Desirèe Padilha Marchetti"'
Autor:
Camila Simioni Vanzin, Caroline Paula Mescka, Bruna Donida, Desirèe Padilha Marchetti, Carlos Eduardo Jacques, Tatiane Hauschild, Jéssica Lamberty Faverzani, Marion Deon, Dinara Moura, Jenifer Saffi, Daniella de Moura Coelho, Moacir Wajner, Angela T.S. Wyse, Carmen Regla Vargas
Publikováno v:
Clinical and Biomedical Research, Vol 38, Iss 1 (2018)
Introduction: Homocysteine (Hcy) tissue accumulation occurs in a metabolic disease characterized biochemically by cystathionine β-synthase (CBS) deficiency and clinically by mental retardation, vascular problems, and skeletal abnormalities. Previous
Externí odkaz:
https://doaj.org/article/b36ae36dd098482790e2470350a1ab3d
Autor:
Desirèe Padilha Marchetti, Bruna Donida, Marion Deon, Carlos Eduardo Jacques, Laura Bannach Jardim, Carmen Regla Vargas
Publikováno v:
Clinical and Biomedical Research, Vol 37, Iss 1 (2017)
Introduction: Recent evidence shows that oxidative stress seems to be related with the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), a neurodegenerative disorder. Methods: In the present study, the in vitro effect of N-acetyl-L-cysteine (
Externí odkaz:
https://doaj.org/article/ececda4a6ead42a1a346a4cf0248d50a
Autor:
Carmen Regla Vargas, Adriana Simon Coitinho, Desirèe Padilha Marchetti, Rafael Bremm Padilha, Daniella de Moura Coelho, Gabriel de Lima Rosa, Edson Fernando Müller Guzzo
Publikováno v:
Clinical & Biomedical Research; Vol. 40 No. 3 (2020)
Clinical and Biomedical Research; v. 40 n. 3 (2020)
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Repositório Institucional da UFRGS
Clinical and Biomedical Research, Vol 40, Iss 3 (2021)
Clinical and Biomedical Research; v. 40 n. 3 (2020)
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Repositório Institucional da UFRGS
Clinical and Biomedical Research, Vol 40, Iss 3 (2021)
Introduction: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal metabolic disorder associated with mutations in the ATP-binding cassette sub-family D member1 ( ABCD1 ) gene. Practically all male patients with X-ALD develop adrenocortical insuffi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::109de999b5e74a2e25d53a4757f39d6a
https://seer.ufrgs.br/index.php/hcpa/article/view/103339
https://seer.ufrgs.br/index.php/hcpa/article/view/103339
Autor:
Laura Bannach Jardim, Dinara Jaqueline Moura, Daniella M. de Coelho, Adriana Simon Coitinho, Luiza Steffens, Caroline Paula Mescka, Gilian Guerreiro, Alice G. Viario, Carmen Regla Vargas, Fernanda Poletto, Carlos Eduardo Diaz Jacques, Marion Deon, Desirèe Padilha Marchetti
Publikováno v:
Cellular and Molecular Neurobiology. 38:1505-1516
X-linked adrenoleukodystrophy (X-ALD) is an inherited neurometabolic disorder caused by disfunction of the ABCD1 gene, which encodes a peroxisomal protein responsible for the transport of the very long-chain fatty acids from the cytosol into the pero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f2069a75efeb38a453f30286972f32
https://doi.org/10.1007/s10571-018-0626-1
https://doi.org/10.1007/s10571-018-0626-1
Autor:
Gilian Guerreiro, Angela Sitta, Carmen Regla Vargas, Fernando Kok, Jéssica Lamberty Faverzani, Aline Kayser, Larissa Athayde, Moacir Wajner, Carlos Eduardo Diaz Jacques, Vanusa Manfredini, Desirèe Padilha Marchetti, Daniella de Moura Coelho
Publikováno v:
Journal of Cellular Biochemistry. 119:10021-10032
The deficiency of the enzyme glutaryl-CoA dehydrogenase, known as glutaric acidemia type I (GA-I), leads to the accumulation of glutaric acid (GA) and glutarilcarnitine (C5DC) in the tissues and body fluids, unleashing important neurotoxic effects. l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20a5452741e53237e117172275eeb40a
https://doi.org/10.1002/jcb.27332
https://doi.org/10.1002/jcb.27332
Autor:
Desirèe Padilha Marchetti, Dinara Jaqueline Moura, Caroline Paula Mescka, Jéssica Lamberty Faverzani, Camila Simioni Vanzin, Moacir Wajner, Carlos Eduardo Diaz Jacques, Bruna Donida, Daniella de Moura Coelho, Tatiane Cristina Hauschild, Carmen Regla Vargas, Marion Deon, Jenifer Saffi, Angela T. S. Wyse
Publikováno v:
Clinical & Biomedical Research. 38:50-57
Introduction: Homocysteine (Hcy) tissue accumulation occurs in a metabolic disease characterized biochemically by cystathionine β-synthase (CBS) deficiency and clinically by mental retardation, vascular problems, and skeletal abnormalities. Previous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9adb031f9988e372b465b2612940f765
https://doi.org/10.4322/2357-9730.76977
https://doi.org/10.4322/2357-9730.76977
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)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83981f248cbaa05dd8322a825abad972
https://doi.org/10.1016/j.ymgmr.2017.04.005
https://doi.org/10.1016/j.ymgmr.2017.04.005
Autor:
Paula R. Manini, Bruna Donida, Adriana Simon Coitinho, Giovana Brondani Biancini, Carmen Regla Vargas, Jenifer Saffi, Marion Deon, Maira Graeff Burin, Fernanda Bender, Roberto Giugliani, Desirèe Padilha Marchetti, Dinara Jaqueline Moura, Helen Tais da Rosa
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1852(5):1012-1019
Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism due to the deficient activity of N-acetylgalactosamine-6-sulfate sulfatase that leads to accumulation of the keratan sulfate and chondroitin 6-sulfate i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42774bbb2807a1cf27bd700f2755569a
Autor:
Bruna Donida, Carlos Severo Dutra-Filho, Angela Sitta, Gilian Guerreiro, Moacir Wajner, Desirèe Padilha Marchetti, Carmen Regla Vargas, Daniella de Moura Coelho, Jéssica Lamberty Faverzani, Tatiane Grazieli Hammerschmidt, Caroline Paula Mescka
Publikováno v:
International Journal of Developmental Neuroscience. 42:10-14
Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acids (BCAA). The defect in the branched-chain α-keto acid dehydrogenase complex activity leads to an accumulation of these compounds and their corresponding α-keto-acids and α
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a3755bcfe6751986363efbcc0abee0c
https://doi.org/10.1016/j.ijdevneu.2015.02.003
https://doi.org/10.1016/j.ijdevneu.2015.02.003
Autor:
Desirèe Padilha Marchetti, Patricia Koehler-Santos, Bruna Donida, Adriana Simon Coitinho, Carmen Regla Vargas, Laura Bannach Jardim, Daniella de Moura Coelho, Tatiane Cristina Hauschild, Marion Deon, Carlos Eduardo Diaz Jacques
Publikováno v:
Journal of cellular biochemistry. 119(1)
X-linked adrenoleukodystrophy (X-ALD) is an inherited disease characterized by progressive inflammatory demyelization in the brain, adrenal insufficiency, and an abnormal accumulation of very long chain fatty acids (VLCFA) in tissue and body fluids.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fab475aef1f6cc5a46bba55b0b40521
https://pubmed.ncbi.nlm.nih.gov/28722826
https://pubmed.ncbi.nlm.nih.gov/28722826