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15 p, 9.5 MB |
Low aerobic capacity in McArdle disease : A role for mitochondrial network impairment?
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Villarreal-Salazar, M. (Hospital Universitari Vall d'Hebron) ;
Santalla, A. (Universidad Pablo de Olavide) ;
Real-Martinez, Alberto (Hospital Universitari Vall d'Hebron) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Valenzuela, P.L. (Hospital Universitario 12 de Octubre (Madrid)) ;
Fiuza-Luces, C. (Hospital Universitario 12 de Octubre (Madrid)) ;
Andreu, A. L. (European Infrastructure for Translational Medicine) ;
Rodríguez-Aguilera, J.C. (Universidad Pablo de Olavide) ;
Martín, M.A. (Hospital Universitario 12 de Octubre (Madrid)) ;
Arenas, Joaquín (Hospital Universitario 12 de Octubre (Madrid)) ;
Vissing, J. (University of Copenhagen) ;
Lucia, A. (European University) ;
Krag, T.O. (University of Copenhagen) ;
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. A hallmark of this condition is muscle oxidation impairment (e. g. , low peak oxygen uptake (VO)), a phenomenon traditionally attributed to reduced glycolytic flux and Krebs cycle anaplerosis. [...]
2022 -  10.1016/j.molmet.2022.101648
Molecular metabolism, Vol. 66 (november 2022)
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19 p, 6.0 MB |
Mitovesicles are a novel population of extracellular vesicles of mitochondrial origin altered in down syndrome
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D'Acunzo, Pasquale (New York University. School of Medicine. Department of Psychiatry) ;
Pérez-González, Rocío (Institut d'Investigació Biomèdica Sant Pau) ;
Kim, Yohan (New York University. School of Medicine. Department of Psychiatry) ;
Hargash, Tal (Center for Dementia Research. Nathan S. Kline Institute for Psychiatric Research) ;
Miller, Chelsea (Center for Dementia Research. Nathan S. Kline Institute for Psychiatric Research) ;
Alldred, Melissa J. (Department of Psychiatry. New York University. School of Medicine) ;
Erdjument-Bromage, Hediye (New York University. School of Medicine. Kimmel Center for Biology and Medicine. The Skirball Institute) ;
Penikalapati, Sai Charan (Center for Dementia Research. Nathan S. Kline Institute for Psychiatric Research) ;
Pawlik, Monika (Center for Dementia Research. Nathan S. Kline Institute for Psychiatric Research) ;
Saito, Mitsuo (Division of Neurochemistry. Nathan S. Kline Institute for Psychiatric Research) ;
Saito, Mariko (New York University School of Medicine. Department of Psychiatry) ;
Ginsberg, Stephen D. (New York University. School of Medicine. Department of Neuroscience and Physiology) ;
Neubert, Thomas A. (Kimmel Center for Biology and Medicine. The Skirball Institute. New York University. School of Medicine) ;
Goulbourne, Chris N. (Center for Dementia Research. Nathan S. Kline Institute for Psychiatric Research) ;
Levy, Efrat (Department of Biochemistry and Molecular Pharmacology. New York University. School of Medicine)
Mitochondrial dysfunction is an established hallmark of aging and neurodegenerative disorders such as Down syndrome (DS) and Alzheimer's disease (AD). Using a high-resolution density gradient separation of extracellular vesicles (EVs) isolated from murine and human DS and diploid control brains, we identify and characterize a previously unknown population of double-membraned EVs containing multiple mitochondrial proteins distinct from previously described EV subtypes, including microvesicles and exosomes. [...]
2021 - 10.1126/sciadv.abe5085
Science advances, Vol. 7 Núm. 7 (december 2021) , p. eabe5085
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3.
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9 p, 2.5 MB |
Collaborative model for diagnosis and treatment of very rare diseases : experience in Spain with thymidine kinase 2 deficiency
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Domínguez-González, C (Instituto de Salud Carlos III) ;
Madruga-Garrido, Marcos (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Hirano, Michio (Columbia University Medical Center) ;
Martí, Itxaso (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Martín, Miguel A. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ;
Nascimento, Andrés (Institut de Recerca Sant Joan de Déu) ;
Olive, Montse (Institut d'Investigació Biomèdica Sant Pau) ;
Quan, Joanne (Zogenix. Inc.) ;
Sardina, Maria Dolores (Complejo Hospitalario Universitario de Badajoz) ;
Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Paradas, Carmen (Instituto de Salud Carlos III) ;
Universitat Autònoma de Barcelona
Background: Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically experience delays in diagnosis and treatment. [...]
2021 - 10.1186/s13023-021-02030-w
Orphanet Journal of Rare Diseases, Vol. 16 Núm. 1 (december 2021) , p. 407
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22 p, 8.3 MB |
Antioxidant and Neuroprotective Properties of Non-Centrifugal Cane Sugar and Other Sugarcane Derivatives in an In Vitro Induced Parkinson's Model
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Cifuentes, Javier (Universidad de Los Andes. Department of Biomedical Engineering) ;
Salazar, V. A (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Cuellar, Mónica (Universidad de Los Andes. Department of Biomedical Engineering) ;
Castellanos, María Claudia (Universidad de Los Andes. Department of Biomedical Engineering) ;
Rodríguez, Jader (Centro de Investigación Tibaitatá) ;
Cruz, Juan C. (Universidad de Los Andes. Department of Biomedical Engineering) ;
Muñoz-Camargo, Carolina (Universidad de Los Andes. Department of Biomedical Engineering)
Non-centrifugal cane sugar (NCS) is a traditional sweetener in most sugarcane regions of the world. In Colombia, this product has a socio-economic importance due to the extensive cultivation area and the high consumption rate per capita. [...]
2021 - 10.3390/antiox10071040
Antioxidants, Vol. 10, Issue 7 (June 2021) , art. 1040
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4 p, 782.8 KB |
Leigh syndrome associated with TRMU gene mutations
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Sala-Coromina, Júlia (Hospital Universitari Vall d'Hebron) ;
Miguel, Lucía Dougherty-de (Hospital Universitari Vall d'Hebron) ;
de las Heras, Javier (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Lasa-Aranzasti, Amaia (Hospital Universitari Vall d'Hebron) ;
Garcia-Arumi, Elena (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Carreño Gago, Lidia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Arranz-Amo, Jose Antonio (Hospital Universitari Vall d'Hebron) ;
Carnicer, Clara (Hospital Universitari Vall d'Hebron) ;
Unceta-Suárez, María (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Sanchez-Montañez, Angel (Hospital Universitari Vall d'Hebron) ;
Gort, Laura (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Tort, Frederic (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Del Toro, Mireia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. [...]
2020 - 10.1016/j.ymgmr.2020.100690
Molecular Genetics and Metabolism Reports, Vol. 26 (december 2020)
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6.
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12 p, 2.8 MB |
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides
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Vila-Julià, Ferran (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cabrera-Pérez, Raquel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cámara, Yolanda (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Molina-Berenguer, Miguel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lope-Piedrafita, Silvia (Universitat Autònoma de Barcelona. Servei de Ressonància Magnètica Nuclear) ;
Hirano, Michio (Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center) ;
Mingozzi, Federico (Spark Therapeutics) ;
Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Preclinical studies have shown that gene therapy is a feasible approach to treat mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). However, the genetic murine model of the disease (Tymp/Upp1 double knockout, dKO) has a limited functional phenotype beyond the metabolic imbalances, and so the studies showing efficacy of gene therapy have relied almost exclusively on demonstrating correction of the biochemical phenotype. [...]
2020 - 10.1016/j.ebiom.2020.103133
EBioMedicine, Vol. 62 (november 2020)
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25 p, 2.6 MB |
Mitochondrial Quality Control in Neurodegenerative Diseases : Focus on Parkinson's Disease and Huntington's Disease
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Franco Iborra, Sandra (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Vila Bover, Miquel (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Perier, Celine (Hospital Universitari Vall d'Hebron. Institut de Recerca)
In recent years, several important advances have been made in our understanding of the pathways that lead to cell dysfunction and death in Parkinson's disease (PD) and Huntington's disease (HD). Despite distinct clinical and pathological features, these two neurodegenerative diseases share critical processes, such as the presence of misfolded and/or aggregated proteins, oxidative stress, and mitochondrial anomalies. [...]
2018 - 10.3389/fnins.2018.00342
Frontiers in Neuroscience, Vol. 12 (May 2018) , art. 342
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8.
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8 p, 2.2 MB |
Loss of mitochondrial Ndufs4 in striatal medium spiny neurons mediates progressive motor impairment in a mouse model of leigh syndrome
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Chen, Byron (University of Washington. Howard Hughes Medical Institute) ;
Hui, Jessica (Seattle Children's Research Institute (Seattle, Estats Units d'Amèrica)) ;
Montgomery, Kelsey S. (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Gella, Alejandro (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Bolea Tomás, Irene (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Sanz Iglesias, Elisenda (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Palmiter, Richard D. (Howard Hughes Medical Institute (Maryland, Estats Units d'Amèrica)) ;
Quintana Romero, Albert (Universitat Autònoma de Barcelona. Institut de Neurociències)
Inability of mitochondria to generate energy leads to severe and often fatal myoencephalopathies. Among these, Leigh syndrome (LS) is one of the most common childhood mitochondrial diseases; it is characterized by hypotonia, failure to thrive, respiratory insufficiency and progressive mental and motor dysfunction, leading to early death. [...]
2017 - 10.3389/fnmol.2017.00265
Frontiers in molecular neuroscience, Vol. 10 (August 2017) , article 265
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