Browsing by Author "Clarimón Echevarría, Jordi"

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  • Ill-Raga, Gerard, 1982-; Palomer, Ernest; Wozniak, Matthew A; Ramos Fernández, Eva, 1984-; Bosch Morató, Mònica, 1986-; Tajes Orduña, Marta; Guix Ràfols, Francesc Xavier; Galán, José J; Clarimón Echevarría, Jordi; Antúnez, Carmen; Real, Luis M; Boada, Mercè; Itzhaki, Ruth F; Fandos, César; Muñoz López, Francisco José, 1964- (Public Library of Science (PLoS), 2011)
    BACE1 is a key enzyme involved in the production of amyloid ß-peptide (Aß) in Alzheimer's disease (AD) brains. Normally, its expression is constitutively inhibited due to the presence of the 5′untranslated region (5′UTR) ...
  • Dols Icardo, Oriol, 1987- (Universitat Pompeu Fabra, 2016-12-15)
    There are overwhelming evidences that amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a clinical, pathological and genetic continuum. The C9orf72 repeat expansion is the most common genetic ...
  • Spataro, Nino, 1984-; Roca-Umbert Würth, Ana; Cervera-Carles, Laura; Vallès, Mònica; Anglada Busquets, Roger; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Casals López, Ferran; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Wiley, 2017)
    Background: The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. ...
  • Clarimón Echevarría, Jordi (Universitat Pompeu Fabra, 2003-03-28)
    En la present tesi doctoral es va establir i calcular els factors genètics de risc per a la forma tardana de la malaltia d'Alzheimer (MA). Foren analitzats un total de 15 variants gèniques (polimorfismes) ubicats en alguns ...
  • Spataro, Nino, 1984-; Calafell i Majó, Francesc; Cervera-Carles, Laura; Casals López, Ferran; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Lleó, Alberto; Navarro i Cuartiellas, Arcadi, 1969-; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Oxford University Press, 2015)
    Parkinson's disease (PD) can be divided into familial (Mendelian) and sporadic forms. A number of causal genes have been discovered for the Mendelian form, which constitutes 10-20% of the total cases. Genome-wide association ...
  • Tajes Orduña, Marta; Eraso Pichot, Abel; Rubio Moscardó, Fanny; Guivernau Almazán, Biuse, 1988-; Ramos Fernández, Eva, 1984-; Bosch Morató, Mònica, 1986-; Guix Ràfols, Francesc Xavier; Clarimón Echevarría, Jordi; Miscione, Gian Pietro; Boada, Mercè; Gil Gómez, Gabriel; Suzuki, Toshiharu; Molina, Henrik; Villà i Freixa, Jordi; Vicente García, Rubén, 1978-; Muñoz López, Francisco José, 1964- (IOS Press, 2014)
    Amyloid-β peptide (Aβ) aggregates induce nitro-oxidative stress, contributing to the characteristic neurodegeneration found in Alzheimer's disease (AD). One of the most strongly nitrotyrosinated proteins in AD is the ...
  • Palomer, Ernest; Ill-Raga, Gerard, 1982-; Tajes Orduña, Marta; Ramos Fernández, Eva, 1984-; Bosch Morató, Mònica, 1986-; Guivernau Almazán, Biuse, 1988-; Galán, José J; Clarimón Echevarría, Jordi; Antúnez, Carmen; Boada, Mercè; Real, Luis M; Fandos, César; Muñoz López, Francisco José, 1964- (Scientific Research Publishing, 2011)
    Alzheimer’s disease (AD) is a neurodegenerative disease characterized by senile plaques and neurofibrillary tangles. Senile plaques are deposits of amyloid ß-peptide (Aß) produced by the cleavage of a transmembrane protein ...
  • Rubio Moscardó, Fanny; Bosch Morató, Mònica, 1986-; Plata, Cristina; Gené, Gemma; Muñoz López, Francisco José, 1964-; Valverde, M. A. (Miguel Ángel), 1963-; Clarimón Echevarría, Jordi (Public Library of Science (PLoS), 2013)
    Calcium signaling in the brain is fundamental to the learning and memory process and there is evidence to suggest that its dysfunction is involved in the pathological pathways underlying Alzheimer’s disease (AD). Recently, ...