Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Jéssica Lamberty, Faverzani"'
Autor:
Franciele Fátima Lopes, Angela Sitta, Daniella de Moura Coelho, Graziela Schmitt Ribas, Jéssica Lamberty Faverzani, Bianca Gomes dos Reis, Moacir Wajner, Carmen Regla Vargas
Publikováno v:
International Journal of Developmental Neuroscience. 82:771-787
Urea cycle disorders (UCD) are a group of genetic diseases caused by deficiencies in the enzymes and transporters involved in the urea cycle. The impairment of the cycle results in ammonia accumulation, leading to neurological dysfunctions and poor o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0fb2feac7c5b2518043399e6b8a8ca4
https://doi.org/10.1002/jdn.10229
https://doi.org/10.1002/jdn.10229
Autor:
Jéssica Lamberty Faverzani, Tatiane Grazieli Hammerschmidt, Caroline Paula Mescka, Gilian Guerreiro, Franciele Fatima Lopes, Camila Aguilar Delgado, Daniella de Moura Coelho, Angela Sitta, Marion Deon, Moacir Wajner, Carmen Regla Vargas
Publikováno v:
Cell Biochemistry and Function.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d88437bbdb81c5ff2cc4ec63e4b2511
https://doi.org/10.1002/cbf.3800
https://doi.org/10.1002/cbf.3800
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:
Tatiane Grazieli Hammerschmidt, Marisa Encarnação, Jéssica Lamberty Faverzani, Franciele de Fátima Lopes, Fabiano Poswar de Oliveira, Carolina Fischinger Moura de Sousa, Isaura Ribeiro, Sandra Alves, Roberto Giugliani, Carmen Regla Vargas
Publikováno v:
Archives of biochemistry and biophysics.
Niemann-Pick type C1 (NPC1) is a fatal inherited disease, caused by pathogenic variants in NPC1 gene, which leads to intracellular accumulation of non-esterified cholesterol and glycosphingolipids. This accumulation leads to a wide range of clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c572c643b3816a2dc3537438c2048e42
https://pubmed.ncbi.nlm.nih.gov/36608914
https://pubmed.ncbi.nlm.nih.gov/36608914
Autor:
Tatiane Grazieli, Hammerschmidt, Bruna, Donida, Marco, Raabe, Jéssica Lamberty, Faverzani, Franciele, de Fátima Lopes, Andryele Z, Machado, Rejane G, Kessler, Luiza S, Reinhardt, Fernanda, Poletto, Dinara J, Moura, Carmen R, Vargas
Publikováno v:
Metabolic brain disease.
Niemann-Pick C disease (NPC) is an autosomal recessive genetic disorder resulting from mutation in one of two cholesterol transport genes: NPC1 or NPC2, causing accumulation of unesterified cholesterol, together with glycosphingolipids, within the en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3dcbbcf205c1e9266c77e3f3e782fd90
https://pubmed.ncbi.nlm.nih.gov/36447062
https://pubmed.ncbi.nlm.nih.gov/36447062
Autor:
Franciele Fátima Lopes, Jéssica Lamberty Faverzani, Tatiane Hammerschmidt, Camila Aguilar Delgado, Julia Ferreira de Oliveira, Moacir Wajner, Carmen Regla Vargas
Publikováno v:
Archives of Biochemistry and Biophysics. 736:109526
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d319f68c375f212127f80420eee149dd
https://doi.org/10.1016/j.abb.2023.109526
https://doi.org/10.1016/j.abb.2023.109526
Autor:
Luiza Steffens, Angela Sitta, Moacir Wajner, Dinara Jaqueline Moura, Carmen Regla Vargas, Matheus Bernardes Ferro, Leopoldo Vinicius Martins Nascimento, Franciele Fatima Lopes, Jeferson Gustavo Henn, Marion Deon, Daniella de Moura Coelho, Jéssica Lamberty Faverzani, Verônica Bidinotto Brito, Desirèe Padilha Marchetti, Gilian Guerreiro, Aline Steinmetz
Publikováno v:
Metabolic brain disease. 36(7)
Although phenylalanine (Phe) is known to be neurotoxic in phenylketonuria (PKU), its exact pathogenetic mechanisms of brain damage are still poorly known. Furthermore, much less is known about the role of the Phe derivatives phenylacetic (PAA), pheny
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c17270000e0643ddc2a4698000e74ae
https://pubmed.ncbi.nlm.nih.gov/34216350
https://pubmed.ncbi.nlm.nih.gov/34216350
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, Bianca Gome dos Reis, Gabriel de Lima Rosa, Alana Pimentel Moura, Vitoria Volfart, Guilherme Baldo, Angela Sitta, Adriana Simon Coitinho, Esteban Alberto Gonzalez, Moacir Wajner, Gilian Guerreiro, Jéssica Lamberty Faverzani
Publikováno v:
Archives of Biochemistry and Biophysics. 709:108970
Glutaric acidemia type 1 (GA1) is caused by glutaryl-CoA dehydrogenase deficiency that leads to a blockage in the metabolic route of the amino acids lysine and tryptophan and subsequent accumulation of glutaric acid (GA), 3-hydroxyglutaric acids and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2298809dee03a368b6f5850507fb2af
https://doi.org/10.1016/j.abb.2021.108970
https://doi.org/10.1016/j.abb.2021.108970