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Listar por autor "Garcia Diaz, Beatriz"
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Blood vessels guide Schwann cell migration in the adult demyelinated CNS through Eph/ephrin signaling
Garcia Diaz, Beatriz; Bachelin, Corinne; Coulpier, Fanny; Gerschenfeld, Gaspar; Deboux, Cyrille; Zujovic, Violetta; Charnay, Patrick; Topilko, Piotr; Baron Van Evercooren, Anne[et al.] (Springer Link, 2019)Schwann cells (SC) enter the central nervous system (CNS) in pathophysiological conditions. However, how SC invade the CNS to remyelinate central axons remains undetermined. We studied SC migratory behavior ex vivo and ... -
Deletion of lysophosphatidic acid receptor LPA1 reduces neurogenesis in the mouse dentate gyrus
Matas-Rico, Elisa; Garcia Diaz, Beatriz; Llebrez Zayas, Pedro; López-Barroso, Diana; Santín-Núñez, Luis Javier; Pedraza-Benítez, María del Carmen; Smith-Fernández, José Aníbal; Téllez-Santana, Teresa; Redondo-Bautista, Maximino; Chun, Jerold; Rodriguez-de-Fonseca, Fernando; Estivill-Torrús, Guillermo[et al.] (Elsevier, 2008)Neurogenesis persists in certain regions of the adult brain including the subgranular zone of the hippocampal dentate gyrus wherein its regulation is essential, particularly in relation to learning, stress and modulation ... -
Deoxycytidine and deoxythymidine treatment for thymidine kinase 2 deficiency.
López-Gómez, Carlos; Levy, Rebecca J; Sánchez-Quintero, María José; Juanola-Falgarona, Martí; Barca, Emanuele; Garcia Diaz, Beatriz; Tadesse, Saba; Garone, Caterina; Hirano, Michio[et al.] (Wiley, 2017)Objective—Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance. Mutations in the nuclear gene TK2 cause TK2 deficiency, which ... -
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy
Garcia Diaz, Beatriz; Garone, Caterina; Barca, Emanuele; Mojahed, Hamed; Gutiérrez, Purificación; Pizzorno, Giuseppe; Tanji, Kurenai; Arias Mendoza, Fernando; Quinzii, Catarina M; Hirano, Michio[et al.] (Oxford University Press, 2014)Balanced pools of deoxyribonucleoside triphosphate precursors are required for DNA replication, and alterations of this balance are relevant to human mitochondrial diseases including mitochondrial neurogastrointestinal ... -
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
Garone, Caterina; Garcia Diaz, Beatriz; Emmanuele, Valentina; Lopez, Luis C; Tadesse, Saba; Akman, Hasan O; Tanji, Kurenai; Quinzii, Catarina M; Hirano, Michio[et al.] (Wiley; BlackWell Publishing Ltd; Wiley-Blackwell, 2014)utosomal recessive mutations in the thymidine kinase 2 gene (TK2) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme activity and ensuing unbalanced deoxynucleotide triphosphate (dNTP) ... -
Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
Emmanuele, Valentina; Kubota, Akatsuki; Garcia Diaz, Beatriz; Garone, Caterina; Akman, Hasan O; Sánchez-Gutiérrez, Daniel; Escudero, Luis M.; Kariya, Shingo; Homma, Shunichi; Tanji, Kurenai; Quinzii, Catarina M.; Hirano, Michio[et al.] (Oxford Academic, 2014-09-30)A member of the four-and-a-half-LIM (FHL) domain protein family, FHL1, is highly expressed in human adult skeletal and cardiac muscle. Mutations in FHL1 have been associated with diverse X-linked muscle diseases: scapuloperoneal ... -
Generation of oligodendrocytes and establishment of an all-human myelinating platform from human pluripotent stem cells
García-León, Juan Antonio; Garcia Diaz, Beatriz; Eggermont, Kristel; Cáceres Palomo, Laura; Neyrinck, Katrien; Madeiro da Costa, Rodrigo; Dávila-Cansino, José Carlos; Baron Van Evercooren, Anne; Gutiérrez-Pérez, Antonia; Verfaille, Catherine M[et al.] (Springer Nature, 2020)Oligodendrocytes (OLs) are responsible for myelin production and metabolic support of neurons. Defects in OLs are crucial in several neurodegenerative diseases including multiple sclerosis (MS) and amyotrophic lateral ... -
Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation
Garcia Diaz, Beatriz; Barros, Mario H.; Sanna, Simone; Emmanuele, Valentina; Akman, Hasan O; Ferreiro Barros, Claudia C.; Horvath, Rita; Tadesse, Saba; El Gharaby, Nader; DiMauro, Salvatore; De Vivo, Darryl C.; Shokr, Aly; Hirado, Michio; Quinzii, Catarina M[et al.] (The American Society of Human Genetics, 2012)Defects of mitochondrial protein synthesis are clinically and genetically heterogeneous. We previously described a male infant who was born to consanguineous parents and who presented with severe congenital encephalopathy, ... -
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Garcia Diaz, Beatriz; Emmanuele, Valentina; Balreira, Andrea; Lopez, Luis C; Tadesse, Saba; Krishna, Sindhu; Naini, Ali; Mariotti, Caterina; Castellotti, Barbara; Quinzii, Catarina M.[et al.] (Oxford University Press, 2015)Ataxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX, which encodes the DNA strand-break repair protein aprataxin (APTX). CoQ10 deficiency has been identified in fibroblasts ... -
Loss of lysophosphatidic acid receptor LPA1 alters oligodendrocyte differentiation and myelination in the mouse cerebral cortex
Garcia Diaz, Beatriz; Riquelme, Raquel; Varela Nieto, Isabel; Jiménez-Lara, Antonio Jesús; De-Diego-Barbado, Isabel; Gómez-Conde, Ana Isabel; Matas-Rico, Elisa; Aguirre-Gómez, José Ángel; Chun, Jerold; Pedraza-Benítez, María del Carmen; Santín-Núñez, Luis Javier; Fernández Fernández, Óscar; Rodriguez-de-Fonseca, Fernando; Estivill-Torrús, Guillermo[et al.] (Springer Link, 2014)Lysophosphatidic acid (LPA) is an intercellular signaling lipid that regulates multiple cellular functions, acting through specific G-protein coupled receptors (LPA1–6). Our previous studies using viable Malaga variant ... -
Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9
Garone, Caterina; Donati, Maria Alice; Sacchini, Michele; Garcia Diaz, Beatriz; Bruno, Claudio; Calvo, Sarah; Mootha, Vamsi K; DiMauro, Salvatore[et al.] (American Medical Association, 2013)Importance Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of “MitoExome” sequencing (deep sequencing of the entire mitochondrial genome and the coding ... -
Modelo de célula.
Garcia Diaz, Beatriz; Bernal Muñoz, Manuel; López-Gómez, Carlos; Sánchez-Quintero, María José; Fernández-Cabrera, Joaquín (2024)Es un modelo de célula en 3D con el que poder explica cómo la compartimentación celular permite una especialización bioquímica de los diversos orgánulos que la constituyen y relacionarlos con su función celular. Este modelo ... -
Modelo mitocondria en 3D.
Garcia Diaz, Beatriz; Bernal Muñoz, Manuel; López-Gómez, Carlos; Sánchez-Quintero, María José; Fernández-Cabrera, Joaquín (2022)Es un modelo de mitocondria en 3D con el que poder explicar los procesos celulares, moleculares y bioquímicos en los que se encuentra implicado este orgánulo, de vital importancia para el correcto funcionamiento de las ... -
Multiple sclerosis iPS-derived oligodendroglia conserve their properties to functionally interact with axons and glia in vivo
Mozafari, Sabah; Starost, Laura; Manot Saillet, Blandine; Garcia Diaz, Beatriz; Xu, Yu Kang T; Roussel, Delphine; Levy, Marion J F; Ottoboni, Linda; Kim, Kee Pyo; Scholer, Hans R; Kennedy, Timothy E; Antel, Jack P; Martino, Gianvito; Angulo, Maria Cecilia; Kulmann, Tanja; Baron Van Evercooren, Anne; martino[et al.] (American Association for the Advancement of Science, 2020)Remyelination failure in multiple sclerosis (MS) is associated with a migration/differentiation block of oligodendroglia. The reason for this block is highly debated. It could result from disease-related extrinsic or ... -
Oligodendrocyte metabolism throughout its differentiation: immunocytochemistry study and its impact in remyelination
Gismero Rodríguez, Javier; López-Villodres, Juan Antonio; Escamilla-Sánchez, Alejandro; García Díaz, Beatriz; Rodríguez-Pérez, Luis Manuel; Mercado-Sáenz, Silvia; Ortega-Jiménez, María Victoria; Arranz-Salas, Isabel María; Peláez-González, Alberto Carlos; Bermúdez-Flores, Diego Teófilo[et al.] (2022-09-07)Introduction: Oligodendrocytes (OL) role in demyelinating pathologies such as multiple sclerosis and other neurodegenerative diseases is only recently being subject of extensive research. While the genetic and molecular ... -
Schwann cells: Rescuers of central demyelination
Garcia Diaz, Beatriz; Baron Van Evercooren, Anne (Wiley, 2020)The presence of peripheral myelinating cells in the central nervous system (CNS) hasgained the neurobiologist attention over the years. Despite the confirmed presence ofSchwann cells in the CNS in pathological conditions, ... -
Semaphorin5A expression in the developing chick telencephalon.
Pineda Tenor, Daniel; Garcia Diaz, Beatriz; Olmos, José Luis; Dávila-Cansino, José Carlos; Real-Avilés, María Ángeles; Guirado-Hidalgo, Salvador[et al.] (Elsevier, 2005)In the present study, we analyzed the expression of Semaphorin5A (Sema5A), a gene implicated in axon guidance and many other processes of neuronal development, in the developing chick telencephalon. By using a heterologous ... -
Slit1 Protein Regulates SVZ-Derived Precursor Mobilization in the Adult Demyelinated CNS
Deboux, Cyrille; Spigoni, C.; Garcia Diaz, Beatriz; Ypsilanti, A.; Sarrazin, Nadege; Bachelin, Corinne; Chédotal, Alain; Baron Van Evercooren, Anne[et al.] (Frontiers Media, 2020)Slit1 is a secreted axon guidance molecule, also involved in adult neurogenesis. In physiological conditions, Slit1 loss promotes ectopic dispersal of SVZ-derived neural precursors (SVZ-NPCs) into periventricular structures ...