Navegação Ciências Biológicas por Autor "Furtado, Gabriel Vasata"

Resultados 1-6 de 6

    • Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease 

      Castilhos, Raphael Machado de; Augustin, Marina Coutinho; Santos, José Augusto dos; Pedroso, José Luiz; Barsottini, Orlando Graziani Povoas; Saba, Roberta Arb; Ferraz, Henrique Ballalai; Vargas, Fernando Regla; Furtado, Gabriel Vasata; Bonatto, Márcia Polese; Rodrigues, Luiza Paulsen; Sena, Lucas Schenatto de; Vargas, Carmen Regla; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Clínica (2020) [Artigo de periódico]
      Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine ...

    • Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions 

      Castilhos, Raphael Machado de; Santos, José Augusto dos; Augustin, Marina Coutinho; Pedroso, José Luiz; Barsottini, Orlando Graziani Povoas; Saba, Roberta Arb; Ferraz, Henrique Ballalai; Godeiro Júnior, Clécio de Oliveira; Vargas, Fernando Regla; Salarini, Diego Zanotti; Furtado, Gabriel Vasata; Bonatto, Márcia Polese; Rodrigues, Luiza Paulsen; Sena, Lucas Schenatto de; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Clínica (2019) [Artigo de periódico]
      Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) ...

    • A model for the dynamics of expanded CAG repeat alleles : ATXN2 and ATXN3 as prototypes 

      Sena, Lucas Schenatto de; Lemes, Renan Barbosa; Furtado, Gabriel Vasata; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach (2023) [Artigo de periódico]
      Background: Spinocerebellar ataxia types 2 (SCA2) and 3 (SCA3/MJD) are diseases due to dominant unstable expansions of CAG repeats (CAGexp). Age of onset of symptoms (AO) correlates with the CAGexp length. Repeat instability ...

    • Peripheral oxidative stress biomarkers in spinocerebellar ataxia type 3/Machado–Joseph disease 

      Assis, Adriano Martimbianco de; Saute, Jonas Alex Morales; Santos, Aline Longoni dos; Haas, Clarissa Branco; Torrez, Vitor Rocco; Brochier, Andressa Wigner; Souza, Gabriele Nunes; Furtado, Gabriel Vasata; Gheno, Tailise Conte; Russo, Aline; Monte, Thais Lampert; Castilhos, Raphael Machado de; Schuh, Artur Francisco Schumacher; Davila, Rui; Donis, Karina Carvalho; Rieder, Carlos Roberto de Mello; Souza, Diogo Onofre Gomes de; Camey, Suzi Alves; Leotti, Vanessa Bielefeldt; Jardim, Laura Bannach; Portela, Luis Valmor Cruz (2017) [Artigo de periódico]
      Objectives: Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic ...

    • State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change 

      Furtado, Gabriel Vasata; Oliveira, Camila Maria de; Bolzan, Gabriela; Saute, Jonas Alex Morales; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach (2019) [Artigo de periódico]
      Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no ...

    • The progression rate of spinocerebellar ataxia type 2 changes with stage of disease 

      Monte, Thais Lampert; Reckziegel, Estela da Rosa; Augustin, Marina Coutinho; Coelho, Lucas Dorídio Locks; Santos, Amanda Senna Pereira dos; Furtado, Gabriel Vasata; Mattos, Eduardo Preusser de; Pedroso, José Luiz; Barsottini, Orlando Graziani Povoas; Vargas, Fernando Regla; Pereira, Maria Luiza Saraiva; Camey, Suzi Alves; Leotti, Vanessa Bielefeldt; Jardim, Laura Bannach (2018) [Artigo de periódico]
      Background: Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. ...