8 documents found, page 1 of 1

The cholesterol 24-hydroxylase activates autophagy and decreases mutant hunting...

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 hunti...

The cholesterol 24-hydroxylase activates autophagy and decreases mutant hunting...

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 huntin...

Restoring brain cholesterol turnover improves autophagy and has therapeutic pot...

Spinocerebellar ataxias (SCAs) are devastating neurodegenerative disorders for which no curative or preventive therapies are available. Deregulation of brain cholesterol metabolism and impaired brain cholesterol turnover have been associated with several neurodegenerative diseases. SCA3 or Machado-Joseph disease (MJD) is the most prevalent ataxia worldwide. We show that cholesterol 24-hydroxylase (CYP46A1), the...

Editorial: Gene Silencing and Editing Strategies for Neurodegenerative Diseases

The laboratory of CN is supported by the French Muscular Dystrophy Association (AFM-Téléthon), the Ataxia UK and the Fundação para a Ciência e Tecnologia, Portugal.

Editorial: Gene Silencing and Editing Strategies for Neurodegenerative Diseases

SOCIOCOGNIÇÃO E INTERAÇÃO EM AULAS DE E/LE: UM ESTUDO NA ACADEMIA MILITAR DAS A...

A proposta deste trabalho é explicitar a construção dos espaços mentais, descrever os space builders, bem como as estratégias de polidez utilizadas no corpus estudado, tendo como moldura comunicativa (frames) as transcrições de gravações realizadas em tempo de interação real entre cadetes e instrutores no decurso de algumas aulas ministradas aos alunos do Curso Avançado (cadetes do segundo ano) pela cadeira de ...

Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a ...

Recent studies have demonstrated that RNAi is a promising approach for treating autosomal dominant disorders. However, discrimination between wild-type and mutant transcripts is essential, to preserve wild-type expression and function. A single nucleotide polymorphism (SNP) is present in more than 70% of patients with Machado-Joseph disease (MJD). We investigated whether this SNP could be used to inactivate mut...

Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease

Machado-Joseph disease (MJD) is a fatal, dominant neurodegenerative disorder. MJD results from polyglutamine repeat expansion in the MJD-1 gene, conferring a toxic gain of function to the ataxin-3 protein. In this study, we aimed at overexpressing ataxin-3 in the rat brain using lentiviral vectors (LV), to generate an in vivo MJD genetic model and, to study the disorder in defined brain regions: substantia nigr...