Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/105836
Title: The cholesterol 24-hydroxylase activates autophagy and decreases mutant huntingtin build-up in a neuroblastoma culture model of Huntington's disease
Authors: Nóbrega, Clévio 
Conceição, André Francisco da 
Costa, Rafael G
Koppenol, Rebekah
Sequeira, Raquel L
Nunes, Ricardo
Carmo-Silva, Sara 
Marcelo, Adriana 
Matos, Carlos A. 
Betuing, Sandrine
Caboche, Jocelyne
Cartier, Nathalie
Alves, Sandro 
Keywords: CYP46A1; Cholesterol; Neuroblastoma cells; Huntingtin; Autophagy
Issue Date: 10-Apr-2020
Publisher: Springer Nature
Project: Brainvectis and E.rare: E-Rare Joint Transnational Call for Proposals 2017 “Transnational Research Projects for Innovative Therapeutic Approaches for Rare Diseases”. 
French Muscular Dystrophy Association (AFM-Téléthon) 
Ataxia UK 
project ALG-01-0145-FEDER-29480 “SeGrPolyQ” 
Ph.D. fellowship from FCT (SFRH/ BD/133192/2017) 
Serial title, monograph or event: BMC Research Notes
Volume: 13
Issue: 1
Abstract: Objective: Compromised brain cholesterol turnover and altered regulation of brain cholesterol metabolism have been allied with some neurodegenerative diseases, including Huntington’s disease (HD). Following our previous studies in HD, in this study we aim to investigate in vitro in a neuroblastoma cellular model of HD, the effect of CYP46A1 overexpression, an essential enzyme in cholesterol metabolism, on huntingtin aggregation and levels. Results: We found that CYP46A1 reduces the quantity and size of mutant huntingtin aggregates in cells, as well as the levels of mutant huntingtin protein. Additionally, our results suggest that the observed beneficial effects of CYP46A1 in HD cells are linked to the activation of autophagy. Taken together, our results further demonstrate that CYP46A1 is a pertinent target to counteract HD progression.
URI: https://hdl.handle.net/10316/105836
ISSN: 1756-0500
DOI: 10.1186/s13104-020-05053-x
Rights: openAccess
Appears in Collections:I&D CNC - Artigos em Revistas Internacionais

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