Home > Search Results: Arranz-Amo, Jose Antonio
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Articles, 4 records found
Articles 4 records found  
1.
15 p, 2.7 MB Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology / Navarro, Alba (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández González, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Riera del Brio, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Montpeyó Garcia-Moreno, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Albert-Bayo, Mercé (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lopez-Royo, Tresa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Castillo-Sanchez, Pablo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Carnicer-Cáceres, Clara (Institució Catalana de Recerca i Estudis Avançats) ; Arranz-Amo, Jose Antonio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Castillo-Ribelles, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pradas-Gracia, Eddie (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Casas, Josefina (Institut de Química Avançada de Catalunya) ; Vila Bover, Miquel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martinez-Vicente, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major genetic risk factor for Parkinson's disease (PD). In this study, we generated a set of differentiated and stable human dopaminergic cell lines that express the two most prevalent GBA mutations as well as GBA knockout cell lines as a in vitro disease modeling system to study the relationship between mutant GBA and the abnormal accumulation of α-synuclein. [...]
2022 - 10.1038/s41531-022-00397-6
NPJ Parkinson's disease, Vol. 8 (october 2022)  
Detailed record - Creative Commons
2.
18 p, 2.3 MB Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up / Carnicer-Cáceres, Clara (Hospital Universitari Vall d'Hebron) ; Arranz-Amo, Jose Antonio (Hospital Universitari Vall d'Hebron) ; Cea-Arestin, Cristina (Hospital Universitari Vall d'Hebron) ; Camprodon-Gomez, Maria (Hospital Universitari Vall d'Hebron) ; Moreno-Martinez, David (Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London WC1E 6BT, UK) ; Lucas-Del-Pozo, Sara (UCL Institute of Neurology (Regne Unit)) ; Moltó Abad, Marc (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Tigri-Santiña, Ariadna (Hospital Universitari Vall d'Hebron) ; Agraz Pamplona, Irene (Hospital Universitari Vall d'Hebron) ; Rodriguez-Palomares, Jose F.. (Hospital Universitari Vall d'Hebron) ; Hernández-Vara, Jorge (Hospital Universitari Vall d'Hebron) ; Armengol-Bellapart, Mar (Hospital Universitari Vall d'Hebron) ; Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. [...]
2021 - 10.3390/jcm10081664
Journal of clinical medicine, Vol. 10 (april 2021)  
Detailed record - Creative Commons
3.
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)  
Detailed record - Creative Commons
4.
13 p, 895.2 KB Impact of ornithine phenylacetate (OCR-002) in lowering plasma ammonia after upper gastrointestinal bleeding in cirrhotic patients / Ventura-Cots, Meritxell (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Concepción, Mar (Institut d'Investigació Biomèdica Sant Pau) ; Arranz-Amo, Jose Antonio ; Simón-Talero, Macarena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Torrens, Maria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Blanco-Grau, Albert (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fuentes Camps, Inmaculada (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Suñé, Pilar (Hospital Universitari Vall d'Hebron) ; Alvarado-Tapias, Edilmar (Institut d'Investigació Biomèdica Sant Pau) ; Gely, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Roman, Eva (Institut d'Investigació Biomèdica Sant Pau) ; Mínguez, Beatriz (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Soriano, German (Institut d'Investigació Biomèdica Sant Pau) ; Genescà Ferrer, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Córdoba Cardona, Juan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Ornithine phenylacetate (OP) has been proven effective in lowering ammonia plasma levels in animals, and to be well tolerated in cirrhotic patients. A trial to assess OP efficacy in lowering plasma ammonia levels versus placebo in cirrhotic patients after an upper gastrointestinal bleeding was performed. [...]
2016 - 10.1177/1756283X16658252
Therapeutic Advances in Gastroenterology, Vol. 9 (july 2016) , p. 823-835  
Detailed record - Creative Commons

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