9 documents found, page 1 of 1
The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated d...
Koppenol, Rebekah; Conceição, André; Afonso, Inês T.; Afonso-Reis, Ricardo; Costa, Rafael G.; Tomé, Sandra; Teixeira, Diogo; da Silva, Joana PintoPolyglutamine diseases are a group of neurodegenerative disorders caused by an abnormal expansion of CAG repeat tracts in the codifying regions of nine, otherwise unrelated, genes. While the protein products of these genes are suggested to play diverse cellular roles, the pathogenic mutant proteins bearing an expanded polyglutamine sequence share a tendency to self-assemble, aggregate and engage in abnormal mol...
Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a targe...
Marcelo, Adriana; Afonso, Inês T.; Afonso-Reis, Ricardo; Brito, David V. C.; Costa, Rafael G.; Rosa, Ana; Alves-Cruzeiro, João; Ferreira, BeneditaSpinocerebellar 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 mutation causing SCA2 disease is an abnormal expansion of CAG trinucleotide repeats in the ATXN2 gene, leading to a toxic expanded polyglutamine segment in the translate...
Stress granules, RNA-binding proteins and polyglutamine diseases: too much aggr...
Marcelo, Adriana; Koppenol, Rebekah; Almeida, Luís Pereira de; Matos, Carlos A.; Nóbrega, ClévioStress granules (SGs) are membraneless cell compartments formed in response to different stress stimuli, wherein translation factors, mRNAs, RNA-binding proteins (RBPs) and other proteins coalesce together. SGs assembly is crucial for cell survival, since SGs are implicated in the regulation of translation, mRNA storage and stabilization and cell signalling, during stress. One defining feature of SGs is their d...
The cholesterol 24-hydroxylase activates autophagy and decreases mutant hunting...
Nóbrega, Clévio; Conceição, André Francisco da; Costa, Rafael G; Koppenol, Rebekah; Sequeira, Raquel L; Nunes, Ricardo; Carmo-Silva, SaraObjective: 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...
MSGP: the first database of the protein components of the mammalian stress gran...
Nunes, Catarina; Mestre, Isa; Marcelo, Adriana; Koppenol, Rebekah; Matos, Carlos A.; Nóbrega, ClévioIn response to different stress stimuli, cells transiently form stress granules (SGs) in order to protect themselves and re-establish homeostasis. Besides these important cellular functions, SGs are now being implicated in different human diseases, such as neurodegenerative disorders and cancer. SGs are ribonucleoprotein granules, constituted by a variety of different types of proteins, RNAs, factors involved i...
Cordycepin activates autophagy through AMPK phosphorylation to reduce abnormali...
Marcelo, Adriana; Brito, Filipa; Carmo-Silva, Sara; Matos, Carlos A.; Alves-Cruzeiro, Joao; Vasconcelos-Ferreira, Ana; Koppenol, RebekahMachado-Joseph disease (MJD) is a neurodegenerative disorder caused by an abnormal expansion of citosine-adenine-guanine trinucleotide repeats in the disease-causing gene. This mutation leads to an abnormal polyglutamine tract in the protein ataxin-3 (Atx3), resulting in formation of mutant Atx3 aggregates. Despite several attempts to develop a therapeutic option for MJD, currently there are no available therap...
MSGP: the first database of the protein components of the mammalian stress gran...
Nunes, Catarina; Mestre, Isa; Marcelo, Adriana; Koppenol, Rebekah; Matos, Carlos A.; Nóbrega, ClévioIn response to different stress stimuli, cells transiently form stress granules (SGs) in order to protect themselves and re-establish homeostasis. Besides these important cellular functions, SGs are now being implicated in different human diseases, such as neurodegenerative disorders and cancer. SGs are ribonucleoprotein granules, constituted by a variety of different types of proteins, RNAs, factors involved i...
Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease path...
Matos, Carlos A.; Pereira De Almeida, Luis; Nóbrega, ClévioMachado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely regarded as the most common form of spinocerebellar ataxia in the world. MJD/SCA3 arises from mutation of the ATXN3 gene, but this simple monogenic cause contrasts with the complexity of the pathogenic mechanisms that are currently admitted to underlie neuronal dysfunction and death. The aberrantly...
Proteolytic cleavage of polyglutamine disease-causing proteins: Revisiting the ...
Matos, Carlos A.; de Almeida, Lus Pereira; Nóbrega, ClévioProteolytic cleavage has been implicated in the pathogenesis of diverse neurodegenerative diseases involving abnormal protein accumulation. Polyglutamine diseases are a group of nine hereditary disorders caused by an abnormal expansion of repeated glutamine tracts contained in otherwise unrelated proteins. When expanded, these proteins display toxic properties and are prone to aggregate, but the mechanisms resp...