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Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease

Raposo, Mafalda; Bettencourt, Conceição; Maciel, P.; Gao, Fuying; Ramos, Amanda; Kazachkova, Nadiya; Vasconcelos, João; Kay, Teresa; Rodrigues, Ana João

BACKGROUND: Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation. Starting with a whole-transcriptome profiling of periphera...


The choroid plexus transcriptome reveals changes in type I and II interferon re...

Mesquita, Sandro Gabriel Ferreira Dá; Ferreira, Ana C.; Gao, Fuying; Coppola, Giovanni; Geschwind, Daniel H.; Sousa, João Carlos

Alzheimer's disease (AD) is a neurodegenerative disorder characterized by a marked decline in cognition and memory function. Increasing evidence highlights the essential role of neuroinflammatory and immune-related molecules, including those produced at the brain barriers, on brain immune surveillance, cellular dysfunction and amyloid beta (Aß) pathology in AD. Therefore, understanding the response at the brain...


Lipocalin 2 is present in the EAE brain and is modulated by natalizumab

Marques, Fernanda; Mesquita, Sandro; Sousa, João; Coppola, Giovanni; Gao, Fuying; Geschwind, Daniel H.; Columba-Cabezas, Sandra; Aloisi, Francesca

Multiple sclerosis (MS) is a demyelinating disease that causes major neurological disability in young adults. A definitive diagnosis at the time of the first episode is still lacking, but since early treatment leads to better prognosis, the search for early biomarkers is needed. Here we characterized the transcriptome of the choroid plexus (CP), which is part of the blood-brain barriers (BBBs) and the major sit...


Transcriptome signature of the adult mouse choroid plexus

Marques, Fernanda Cristina Gomes de Sousa; Sousa, João Carlos; Coppola, Giovanni; Gao, Fuying; Puga, Renato; Brentani, Helena; Geschwind, Daniel H.

Background: Although the gene expression profile of several tissues in humans and in rodent animal models has been explored, analysis of the complete choroid plexus (CP) transcriptome is still lacking. A better characterization of the CP transcriptome can provide key insights into its functions as one of the barriers that separate the brain from the periphery and in the production of cerebrospinal fluid. Method...


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