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http://hdl.handle.net/10362/173114| Título: | Is spastic ataxia 8 a protein misfolding disorder? |
| Autor: | Ferreira-Peralta, Pedro França, Brenda Murtinheira, Fernanda Rodrigues, Mario S. Herrera, Federico |
| Palavras-chave: | NKX6-2 Nonsense mutations Spastic ataxia 8 Truncated proteins Molecular Medicine Molecular Biology |
| Data: | Jan-2024 |
| Resumo: | • Loss-of-function mutations in the NKX6-2 transcription factor are linked to autosomal recessive spastic ataxia 8 (SPAX8). • SPAX8-related mutations show lower levels of protein expression, potentially due to nonsense-mediated mRNA decay (NMD). • We developed new molecular tools to study SPAX8-related NKX6-2 mutants in living cells, which are not targeted by NMD. • SPAX8-causing mutations lose their exclusive nuclear localization, display lower protein levels, or aggregate. • Our results indicate that at least some forms of SPAX8 belong to the superfamily of protein misfolding disorders. |
| Descrição: | Funding Information: We acknowledge the BioISI/FCUL Microscopy Facility, a node of the Portuguese Platform of BioImaging supported by FEDER funds (Ref. PPBI-POCI-01-0145-FEDER-022122 ). FH and MSR were supported by Centre grants from Fundação para a Ciência e Tecnologia to the BioISI Research Unit (Refs. UIDB/04046/2020 and UIDP/04046/2020 ) and by individual grants through Fundação para a Ciência e Tecnologia ( PTDC/MED-NEU/31417/2017 to FH and PTDC/FIS-MAC/2741/2021 to MSR). FH was additionally supported by a grant from the ARSACS Foundation (Canada). FM and PP were supported by PhD fellowships from Fundação para a Ciência e Tecnologia (Refs. SFRH/BD/133220/2017 and 2022.14141.BD , respectively). Funded by the European Union ( TWIN2PIPSA, GA 101079147 ). Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the European Union or European Research Executive Agency (REA). Neither the European Union nor the granting authority can be held responsible for them. Funding Information: We acknowledge the BioISI/FCUL Microscopy Facility, a node of the Portuguese Platform of BioImaging supported by FEDER funds (Ref. PPBI-POCI-01-0145-FEDER-022122). FH and MSR were supported by Centre grants from Fundação para a Ciência e Tecnologia to the BioISI Research Unit (Refs. UIDB/04046/2020 and UIDP/04046/2020) and by individual grants through Fundação para a Ciência e Tecnologia (PTDC/MED-NEU/31417/2017 to FH and PTDC/FIS-MAC/2741/2021 to MSR). FH was additionally supported by a grant from the ARSACS Foundation (Canada). FM and PP were supported by PhD fellowships from Fundação para a Ciência e Tecnologia (Refs. SFRH/BD/133220/2017 and 2022.14141.BD, respectively). Funded by the European Union (TWIN2PIPSA, GA 101079147). Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the European Union or European Research Executive Agency (REA). Neither the European Union nor the granting authority can be held responsible for them. Publisher Copyright: © 2023 The Authors |
| Peer review: | yes |
| URI: | http://hdl.handle.net/10362/173114 |
| DOI: | https://doi.org/10.1016/j.bbadis.2023.166882 |
| ISSN: | 0925-4439 |
| Aparece nas colecções: | Home collection (ITQB) |
Ficheiros deste registo:
| Ficheiro | Descrição | Tamanho | Formato | |
|---|---|---|---|---|
| Is_spastic_ataxia_8_a_protein_misfolding.pdf | 2,66 MB | Adobe PDF | Ver/Abrir |
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