Browsing by Author "Tolosa, Eduard"

Sort by: Order: Results:

  • New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
    Corral Juan, Marc; Casquero, Pilar; Giraldo-Restrepo, Natalia; Laurie, Steven, 1973-; Martinez-Piñeiro, Alicia; Mateo-Montero, Raidili Cristina; Ispierto, Lourdes; Vilas, Dolores; Tolosa, Eduard; Volpini, Victor; Alvarez-Ramo, Ramiro; Sánchez, Ivelisse; Matilla Dueñas, Antoni (Oxford University Press, 2022)
    Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The ...
  • Parkinson's disease patient-specific neuronal networks carrying the LRRK2 G2019S mutation unveil early functional alterations that predate neurodegeneration
    Carola, Giulia; Malagarriga, Daniel; Calatayud, Carles; Pons Espinal, Meritxell, 1986-; Blasco Agell, Lucas; Richaud Patin, Yvonne; Fernández Carasa, Irene; Baruffi, Valentina; Beltramone, Santiago; Molina, Emilio; Dell'Era, Patrizia; Toledo Aral, Juan J.; Tolosa, Eduard; Muotri, Alysson R.; García Ojalvo, Jordi; Soriano Fradera, Jordi; Raya Chamorro, Ángel; Consiglio, Antonella (Nature Research, 2021)
    A deeper understanding of early disease mechanisms occurring in Parkinson's disease (PD) is needed to reveal restorative targets. Here we report that human induced pluripotent stem cell (iPSC)-derived dopaminergic neurons ...
  • Patient-specific iPSC-derived astrocytes contribute to non-cell-autonomous neurodegeneration in Parkinson's disease
    di Domenico, Angelique; Carola, Giulia; Calatayud, Carles; Pons Espinal, Meritxell, 1986-; Muñoz, Juan Pablo; Richaud Patin, Yvonne; Fernández Carasa, Irene; Gut, Marta; Faella, Armida; Parameswaran, Janani, 1990-; Soriano, Jordi; Ferrer, Isidre; Tolosa, Eduard; Zorzano, Antonio; Cuervo, Ana Maria; Raya Chamorro, Ángel; Consiglio, Antonella (Elsevier, 2019)
    Parkinson's disease (PD) is associated with the degeneration of ventral midbrain dopaminergic neurons (vmDAns) and the accumulation of toxic α-synuclein. A non-cell-autonomous contribution, in particular of astrocytes, ...
  • Sleep disorders in parkinsonian and nonparkinsonian LRRK2 mutation carriers
    Pont-Sunyer, Claustre Pont-Sunyer; Iranzo, Alex; Gaig, Carles; Fernández-Arcos, Ana; Vilas, Dolores; Valldeoriola, Francesc; Compta, Yaroslau; Fernández-Santiago, Ruben; Fernández, Manel; Bayés, Angels; Calopa, Matilde; Casquero, Pilar; De Fàbregues, Oriol; Jaumà, Serge; Puente Periz, Victor Manuel; Salamero, Manel; Martí, Maria José; Santamaría, Joan; Tolosa, Eduard (Public Library of Science, 2015)
    OBJECTIVE: In idiopathic Parkinson disease (IPD) sleep disorders are common and may antedate the onset of parkinsonism. Based on the clinical similarities between IPD and Parkinson disease associated with LRRK2 gene mutations ...
  • Somatic mutations detected in Parkinson disease could affect genes with a role in synaptic and neuronal processes
    Lobon, Irene; Solís Moruno, Manuel, 1993-; Juan, David; Muhaisen, Ashraf; Abascal, Federico; Esteller Cucala, Paula; García Pérez, Raquel, 1989-; Martí, Maria Josep; Tolosa, Eduard; Ávila, Jesús; Rahbari, Raheleh; Marquès i Bonet, Tomàs, 1975-; Casals López, Ferran; Soriano, Eduardo (Frontiers, 2022)
    The role of somatic mutations in complex diseases, including neurodevelopmental and neurodegenerative disorders, is becoming increasingly clear. However, to date, no study has shown their relation to Parkinson disease's ...
  • Transcriptome analysis in LRRK2 and idiopathic Parkinson's disease at different glucose levels
    Fernández-Santiago, Ruben; Esteve-Codina, Anna; Fernández, Manel; Valldeoriola, Francesc; Sanchez-Gómez, Almudena; Muñoz, Esteban; Compta, Yaroslau; Tolosa, Eduard; Ezquerra, Mario; Martí, Maria José (Nature Research, 2021)
    Type-2 diabetes (T2D) and glucose metabolic imbalances have been linked to neurodegenerative diseases, including Parkinson's disease (PD). To detect potential effects of different glucose levels on gene expression, by ...
  • Whole-genome DNA hyper-methylation in iPSC-derived dopaminergic neurons from Parkinson's disease patients
    Fernández-Santiago, Ruben; Merkel, Angelika; Castellano, Giancarlo; Heath, Simon; Raya Chamorro, Ángel; Tolosa, Eduard; Martí, Maria José; Consiglio, Antonella; Ezquerra, Mario (BioMed Central, 2019)
    Background: Parkinson’s disease (PD) is characterized by the loss of midbrain dopaminergic neurons (DAn). Previously, we described the presence of DNA hyper- and hypo-methylation alterations in induced pluripotent stem ...