Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Isabel Onofre"'
Autor:
Carla Lopes, Yang Tang, Sandra I. Anjo, Bruno Manadas, Isabel Onofre, Luís P. de Almeida, George Q. Daley, Thorsten M. Schlaeger, Ana Cristina Carvalho Rego
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Mitochondrial deregulation has gained increasing support as a pathological mechanism in Huntington’s disease (HD), a genetic-based neurodegenerative disorder caused by CAG expansion in the HTT gene. In this study, we thoroughly investigated mitocho
Externí odkaz:
https://doaj.org/article/034c49801e4a46ddac39a80d660201f9
Autor:
Clévio Nóbrega, Isabel Nascimento-Ferreira, Isabel Onofre, David Albuquerque, Nicole Déglon, Luís Pereira de Almeida
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e100086 (2014)
Machado-Joseph disease or Spinocerebellar ataxia type 3 is a progressive fatal neurodegenerative disorder caused by the polyglutamine-expanded protein ataxin-3. Recent studies demonstrate that RNA interference is a promising approach for the treatmen
Externí odkaz:
https://doaj.org/article/33775b10d91a45f49bd22670e237f3b3
Autor:
Clévio Nóbrega, Isabel Nascimento-Ferreira, Isabel Onofre, David Albuquerque, Hirokazu Hirai, Nicole Déglon, Luís Pereira de Almeida
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e52396 (2013)
Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly-inherited neurodegenerative disorder caused by the over-repetition of a CAG codon in the MJD1 gene. This expansion translates into a polyglutamine tract t
Externí odkaz:
https://doaj.org/article/34ddcc2006da447481516d0368af541a
Autor:
Sara M, Lopes, Rosário, Faro, Miguel M, Lopes, Isabel, Onofre, Nuno, Mendonça, Joana, Ribeiro, Cristina, Januário, Rui Jorge, Nobre, Luís, Pereira de Almeida
Publikováno v:
The Journal of molecular diagnostics : JMD. 22(6)
Polyglutamine spinocerebellar ataxias (SCAs) constitute a group of autosomal dominantly inherited neurodegenerative disorders with considerable phenotypic overlap. Definitive diagnoses rely on the detection of a mutation in each associated locus, com
Autor:
Ana Cláudia Raposo, Mariana Joaquim, Luís Pereira de Almeida, Ana Rita Álvaro, Inês Godinho, Isabel Onofre, Duarte Pólvora-Brandão, Sofia T. Duarte, Simão Teixeira da Rocha, Domenico Aprile
Publikováno v:
Human Molecular Genetics
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease modeling approaches based on induced pluripotent stem cells (iPSCs) have been used to study these syn
Autor:
Liliana S, Mendonça, Isabel, Onofre, Catarina Oliveira, Miranda, Rita, Perfeito, Clévio, Nóbrega, Luís Pereira, de Almeida
Publikováno v:
Advances in experimental medicine and biology. 1049
Polyglutamine (polyQ) diseases are a family of neurodegenerative disorders with very heterogeneous clinical presentations, although with common features such as progressive neuronal death. Thus, at the time of diagnosis patients might present an exte
Autor:
Luís Pereira de Almeida, Isabel Onofre, Rita Perfeito, Catarina Oliveira Miranda, Clévio Nóbrega, Liliana Mendonça
Publikováno v:
Polyglutamine Disorders ISBN: 9783319717784
Polyglutamine (polyQ) diseases are a family of neurodegenerative disorders with very heterogeneous clinical presentations, although with common features such as progressive neuronal death. Thus, at the time of diagnosis patients might present an exte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::910ca94b0b612a80289f0d69d1ac4e5f
https://doi.org/10.1007/978-3-319-71779-1_21
https://doi.org/10.1007/978-3-319-71779-1_21
Autor:
Hirokazu Hirai, Clévio Nóbrega, David Albuquerque, Nicole Déglon, Isabel Onofre, Célia A. Aveleira, Luís Pereira de Almeida, Ana Vasconcelos-Ferreira, Isabel Nascimento-Ferreira
Publikováno v:
Brain, vol. 136, no. Pt 7, pp. 2173-2188
Machado-Joseph disease or spinocerebellar ataxia type 3, the most common dominantly-inherited spinocerebellar ataxia, results from translation of the polyglutamine-expanded and aggregation prone ataxin 3 protein. Clinical manifestations include cereb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94338f218964fb436b7acab53b3d029a
http://doc.rero.ch/record/297276/files/awt144.pdf
http://doc.rero.ch/record/297276/files/awt144.pdf
Autor:
Janete Cunha-Santos, Isabel Onofre, Beverly L. Davidson, Udaya Geetha Vijayakumar, Luís Pereira de Almeida, Ana Simões, Vitor Carmona
Publikováno v:
Molecular therapy
Machado-Joseph disease (MJD) is a genetic neurodegenerative disease caused by an expanded polyglutamine tract within the protein ataxin-3 (ATXN3). Despite current efforts, MJD's mechanism of pathogenesis remains unclear and no disease-modifying treat
Autor:
Cristina Januário, Sara Lopes, Nuno Mendonça, Isabel M. Carreira, António Freire Gonçalves, Rui Jorge Nobre, Joana B. Melo, Isabel Onofre, Luís Pereira de Almeida
Publikováno v:
Scientifc Reports
Scientific Reports
Scientific Reports
Machado Joseph Disease (MJD) is the most frequent autosomal dominantly inherited cerebellar ataxia caused by the over-repetition of a CAG trinucleotide in the ATXN3 gene. This expansion translates into a polyglutamine tract within the ataxin-3 protei