Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy

Autor: Adriana Marcelo, Inês T. Afonso, Ricardo Afonso-Reis, David V. C. Brito, Rafael G. Costa, Ana Rosa, João Alves-Cruzeiro, Benedita Ferreira, Carina Henriques, Rui J. Nobre, Carlos A. Matos, Luís Pereira de Almeida, Clévio Nóbrega

Publikováno v: Cell Death and Disease, Vol 12, Iss 12, Pp 1-13 (2021)

Abstract Spinocerebellar ataxia type 2 (SCA2) is an incurable and genetic neurodegenerative disorder. The disease is characterized by progressive degeneration of several brain regions, resulting in severe motor and non-motor clinical manifestations.

Externí odkaz: https://doaj.org/article/b63aca6d2a754206b576ac751ce40616

MeCP2 gates spatial learning-induced alternative splicing events in the mouse hippocampus

Autor: David V. C. Brito, Kubra Gulmez Karaca, Janina Kupke, Lukas Frank, Ana M. M. Oliveira

Publikováno v: Molecular Brain, Vol 13, Iss 1, Pp 1-16 (2020)

Abstract Long-term memory formation is supported by functional and structural changes of neuronal networks, which rely on de novo gene transcription and protein synthesis. The modulation of the neuronal transcriptome in response to learning depends o

Externí odkaz: https://doaj.org/article/1b27d872b3f64110b962b2b2b61b159c

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The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits

Autor: Rebekah Koppenol, André Conceição, Inês T Afonso, Ricardo Afonso-Reis, Rafael G Costa, Sandra Tomé, Diogo Teixeira, Joana Pinto da Silva, José Miguel Côdesso, David V C Brito, Liliana Mendonça, Adriana Marcelo, Luís Pereira de Almeida, Carlos A Matos, Clévio Nóbrega

Publikováno v: Brain : a journal of neurology.

Koppenol et al. show that overexpression of G3BP1 in cell models of SCA2 and SCA3 leads to a reduction in ataxin-2 and ataxin-3 aggregation. G3BP1 lentiviral delivery reduces motor deficits and neuropathology in preclinical models, suggesting that G3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af63acee90918998467f5586a1a267d
https://pubmed.ncbi.nlm.nih.gov/36511898

Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy

Autor: Rafael G. Costa, David V. C. Brito, Carina Henriques, Clévio Nóbrega, Benedita Ferreira, Carlos A. Matos, Rui Jorge Nobre, Adriana Marcelo, João Alves-Cruzeiro, Ricardo Afonso-Reis, Luís Pereira de Almeida, Ana Rosa, Inês T. Afonso

Publikováno v: Cell Death & Disease
Cell Death and Disease, Vol 12, Iss 12, Pp 1-13 (2021)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Spinocerebellar ataxia type 2 (SCA2) is an incurable and genetic neurodegenerative disorder. The disease is characterized by progressive degeneration of several brain regions, resulting in severe motor and non-motor clinical manifestations. The mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a91f264cee9ae7175666cc53a9f89b6c
https://pubmed.ncbi.nlm.nih.gov/34845184