|
1.
|
|
15 p, 9.5 MB |
Low aerobic capacity in McArdle disease : A role for mitochondrial network impairment?
/
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)
|
|
|
2.
|
|
8 p, 1.3 MB |
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases
/
Rovira-Remisa, M. Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Moreira, Mónica (Universitat Autònoma de Barcelona) ;
Ventura-Wichner, Paula S (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Gonzalez-Alvarez, Pablo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Mestres, Núria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Graterol Torres, Fredzzia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Joaquín, Clara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez-Colls, Maria del Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Roche, Ana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ibáñez-Micó, Salvador (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ;
López-Laso, Eduardo (Instituto Maimónides de Investigación Biomédica de Córdoba) ;
Méndez-Hernández, María Jesús (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Murillo-Vallés, Marta (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Monlleó-Neila, Laura (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Maqueda-Castellote, Elena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Del Toro, Mireia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Giralt López, Maria (Universitat Autònoma de Barcelona) ;
Cortès-Saladelafont, Elisenda (Universitat Autònoma de Barcelona)
The Covid-19 pandemic soon became an international health emergency raising concern about its impact not only on physical health but also on quality of life and mental health. Rare diseases are chronically debilitating conditions with challenging patient care needs. [...]
2023 - 10.1016/j.ymgmr.2023.100962
Molecular Genetics and Metabolism Reports, Vol. 35 (march 2023) , p. 100962
|
|
|
3.
|
|
13 p, 3.1 MB |
Proteomic quantitative study of dorsal root ganglia and sciatic nerve in type 2 diabetic mice
/
Leal-Julià, Marc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Vilches, Jorge J. (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Onieva, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Verdés, Sergi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Sánchez, Ángela (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Chillón Rodríguez, Miguel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Navarro, X. (Xavier) (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Bosch i Merino, Assumpció (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Peripheral neuropathy is the most common and debilitating complication of type 2 diabetes, leading to sensory loss, dysautonomia, hyperalgesia, and spontaneous noxious sensations. Despite the clinical and economic burden of diabetic neuropathy, no effective treatment is available. [...]
2021 - 10.1016/j.molmet.2021.101408
Molecular metabolism, Vol. 55 (november 2021)
|
|
|
4.
|
|
9 p, 745.9 KB |
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
/
Bichet, Daniel G. (Department of Medicine, Hôpital du Sacré-Coeur, University of Montréal, Montreal, Quebec, Canada) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Wallace, Eric (Department of Medicine, University of Alabama, Birmingham, AL, USA) ;
Hughes, Derralynn A (Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, UK) ;
Giugliani, Roberto (Instituto Nacional de Genética Médica Populacional (Porto Alegre, Brasil)) ;
Skuban, Nina (Amicus Therapeutics, Inc., Cranbury, NJ, USA) ;
Krusinska, Eva (Amicus Therapeutics, Inc., Cranbury, NJ, USA) ;
Feldt-Rasmussen, Ulla (Copenhagen University Hospital Rigshospitalet) ;
Schiffmann, Raphael (Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA) ;
Nicholls, Kathy (Royal Melbourne Hospital (Melbourne, Austràlia)) ;
Universitat Autònoma de Barcelona
The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)-naive and ERT-experienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical trials and open-label extension studies was conducted to evaluate long-term changes in renal function in patients with Fabry disease and amenable GLA variants who were treated with migalastat for ≥2 years during these studies. [...]
2021 - 10.1016/j.ymgmr.2021.100786
Molecular Genetics and Metabolism Reports, Vol. 28 (august 2021)
|
|
|
5.
|
|
4 p, 782.8 KB |
Leigh syndrome associated with TRMU gene mutations
/
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)
|
|
|
6.
|
|
|
7.
|
|
5 p, 250.5 KB |
Elosulfase alfa for mucopolysaccharidosis type IVA : Real-world experience in 7 patients from the Spanish Morquio-A early access program
/
Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Blasco Alonso, Javier (Hospital Regional Universitario de Málaga) ;
Couce, Maria Luz (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ;
González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Guillén-Navarro, Encarnación (IMIB - Arrixaca, Murcia) ;
O'Callaghan, Maria del Mar (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. [...]
2018 - 10.1016/j.ymgmr.2018.03.009
Molecular Genetics and Metabolism Reports, Vol. 15 (april 2018) , p. 116-120
|
|
|
8.
|
|
12 p, 1.4 MB |
BMP4 gene therapy enhances insulin sensitivity but not adipose tissue browning in obese mice
/
Hoffmann, Jenny M. (University of Gothenburg. The Lundberg Laboratory for Diabetes Research) ;
Grünberg, John R. (University of Gothenburg. The Lundberg Laboratory for Diabetes Research) ;
Hammarstedt, Ann (University of Gothenburg. The Lundberg Laboratory for Diabetes Research) ;
Kroon, Tobias (BioPharmaceuticals. Bioscience Metabolism, Research and Early Development) ;
Greiner, Thomas U. (University of Gothenburg. Department of Molecular and Clinical Medicine) ;
Maurer, Stefanie (BioPharmaceuticals. Bioscience Metabolism, Research and Early Development) ;
Elias Puigdomenech, Ivet (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ;
Palsdottir, Vilborg (University of Gothenburg. Department of Physiology/Endocrinology) ;
Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica (CBATEG)) ;
Boucher, Jeremie (University of Gothenburgç. Wallenberg Centre for Molecular and Translational Medicine) ;
Hedjazifar, Shahram (University of Gothenburg. The Lundberg Laboratory for Diabetes Research) ;
Smith, Ulf (University of Gothenburg. The Lundberg Laboratory for Diabetes Research)
Bone morphogenetic protein 4 (BMP4) adeno-associated viral vectors of serotype 8 (AAV8) gene therapy targeting the liver prevents the development of obesity in initially lean mice by browning the large subcutaneous white adipose tissue (WAT) and enhancing energy expenditure. [...]
2019 - 10.1016/j.molmet.2019.11.016
Molecular metabolism, Vol. 32 (december 2019) , p. 15-26
|
|
|
9.
|
|
15 p, 4.6 MB |
Hepatic regulation of VLDL receptor by PPARβ/δ and FGF21 modulates non-alcoholic fatty liver disease
/
Zarei, Mohammad (Universitat de Barcelona. Departament de Farmacologia, Toxicologia i Química Terapèutica) ;
Barroso, Emma (Universitat de Barcelona. Departament de Farmacologia, Toxicologia i Química Terapèutica) ;
Palomer, Xavier (Universitat de Barcelona. Departament de Farmacologia, Toxicologia i Química Terapèutica) ;
Dai, Jianli (University of the Chinese Academy of Sciences. Institute for Nutritional Sciences. Key Laboratory of Nutrition and Metabolism) ;
Rada, Patricia (Instituto de Salud Carlos III. Centro de Investigación Biomédica en Red) ;
Quesada-López, Tania (Universitat de Barcelona. Departament de Bioquímica i Biomedicina Molecular) ;
Escolà-Gil, Joan Carles (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Cedó, Lídia (Institut d'Investigació Biomèdica Sant Pau) ;
Zali, Mohammad Reza (Shahid Beheshti University of Medical Sciences. Research Institute for Gastroenterology and Liver Diseases) ;
Molaei, Mahsa (Shahid Beheshti University of Medical Sciences. Research Institute for Gastroenterology and Liver Diseases) ;
Dabiri, Reza (Semnan University of Medical Sciences. lnternal Medicine Department) ;
Vázquez, Santiago (Universitat de Barcelona. Departament de Farmacologia, Toxicologia i Química Terapèutica) ;
Pujol Bech, Eugenia (Universitat de Barcelona. Departament de Farmacologia, Toxicologia i Química Terapèutica) ;
Valverde, Ángela M. (Instituto de Investigaciones Biomédicas "Alberto Sols") ;
Villarroya, Francesc (Universitat de Barcelona. Departament de Bioquímica i Biomedicina Molecular) ;
Liu, Yong (Wuhan University. Institute for Advanced Studies) ;
Wahli, Walter (Nanyang Technological University. Lee Kong Chian School of Medicine) ;
Vázquez-Carrera, Manuel (Universitat de Barcelona. Departament de Farmacologia, Toxicologia i Química Terapèutica) ;
Universitat Autònoma de Barcelona
The very low-density lipoprotein receptor (VLDLR) plays an important role in the development of hepatic steatosis. In this study, we investigated the role of Peroxisome Proliferator-Activated Receptor (PPAR)β/δ and fibroblast growth factor 21 (FGF21) in hepatic VLDLR regulation. [...]
2018 - 10.1016/j.molmet.2017.12.008
Molecular metabolism, Vol. 8 (Feb. 2018) , p. 117-131
|
|
|
10.
|
|
5 p, 246.4 KB |
Long-term outcomes with agalsidase alfa enzyme replacement therapy : analysis using deconstructed composite events
/
Beck, Michael (University Medical Center, Mainz, Germany) ;
Hughes, Derralynn A (University College London) ;
Kampmann, Christoph (University Medical Center, Mainz, Germany) ;
Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Ramaswami, Uma (University College London) ;
West, Michael L. (Dalhousie University, Halifax, Canada) ;
Giugliani, Roberto (Universidade Federal do Rio Grande do Sul, Brazil) ;
Universitat Autònoma de Barcelona
This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately. [...]
2017 - 10.1016/j.ymgmr.2017.10.008
Molecular Genetics and Metabolism Reports, Vol. 14 (november 2017) , p. 31-35
|
|
guest ::
email alert
or subscribe to the 
RSS feed.
