Výsledky vyhledávání - "José Miguel Codêsso"

The autophagy-enhancing drug carbamazepine improves neuropathology and motor impairment in mouse models of Machado-Joseph disease

Autor: Marcondes C. França, Patrick Silva, Luís Pereira de Almeida, Ana Vasconcelos-Ferreira, Clévio Nóbrega, Sara Carmo-Silva, José Miguel Codêsso, Alberto R. M. Martinez

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Aims Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is the most common autosomal dominantly-inherited ataxia worldwide and is characterised by the accumulation of mutant ataxin-3 (mutATXN3) in different brain regions, leading

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4fce06d71fec1f5ffa39b1f6cb1ffe
https://pubmed.ncbi.nlm.nih.gov/34432315

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RNA Interference Therapy for Machado–Joseph Disease: Long-Term Safety Profile of Lentiviral Vectors Encoding Short Hairpin RNAs Targeting Mutant Ataxin-3

Autor: Luís Pereira de Almeida, Clévio Nóbrega, José Miguel Codêsso, Liliana Mendonça

Publikováno v: Human Gene Therapy
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 is a neurodegenerative disorder caused by an abnormal repetition of a CAG codon in the MJD1 gene. This expansion translates into a long polyglutamine tract, leading to the misfolding of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75095004b5917df1ee8538be3a1a83ae

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