Search Results - Montse Olivé

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  1. 1
    Ablation of LAT2 Transporter Causes Intramuscular Glutamine Accumulation and Inhibition of Fasting‐Induced Proteolysis

    Ablation of LAT2 Transporter Causes Intramuscular Glutamine Accumulation and Inhibition of Fasting‐Induced Proteolysis by Meritxell Espino‐Guarch, Susie Shih Yin Huang, Clara Vilches, Esther Prat, Rana El Nahas, Ghalia Missous, Susanna Bodoy, Abbirami Sathappan, Mohammad Ameen Al‐Aghbar, Clara Mayayo, Montse Olivé, Silvia Busquets‐Rius, David Sebastián, Antonio Zorzano, Manuel Palacin, Nicholas vanPanhuys, Virginia Nunes

    Published 2025-06-01

    ABSTRACT Background The neutral amino acid transporter SLC7A8 (LAT2) has been described as a key regulator of metabolic adaptation. LAT2 mutations in human populations have been linked to the early onset of age‐related hearing loss and cataract growth. As LAT2 was previously found to be highly expre...

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  2. 2
    Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

    Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases by Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda

    Published 2025-07-01

    ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease bu...

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    Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI

    Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI by Jose Verdu‐Diaz, Carla Bolano‐Díaz, Alejandro Gonzalez‐Chamorro, Sam Fitzsimmons, Jodi Warman‐Chardon, Goknur Selen Kocak, Debora Mucida‐Alvim, Ian C. Smith, John Vissing, Nanna Scharff Poulsen, Sushan Luo, Cristina Domínguez‐González, Laura Bermejo‐Guerrero, David Gomez‐Andres, Javier Sotoca, Anna Pichiecchio, Silvia Nicolosi, Mauro Monforte, Claudia Brogna, Eugenio Mercuri, Jorge Alfredo Bevilacqua, Jorge Díaz‐Jara, Benjamín Pizarro‐Galleguillos, Peter Krkoska, Jorge Alonso‐Pérez, Montse Olivé, Erik H. Niks, Hermien E. Kan, James Lilleker, Mark Roberts, Bianca Buchignani, Jinhong Shin, Florence Esselin, Emmanuelle Le Bars, Anne Marie Childs, Edoardo Malfatti, Anna Sarkozy, Luke Perry, Sniya Sudhakar, Edmar Zanoteli, Filipe Tupinamba Di Pace, Emma Matthews, Shahram Attarian, David Bendahan, Matteo Garibaldi, Laura Fionda, Alicia Alonso‐Jiménez, Robert Carlier, Ali Asghar Okhovat, Shahriar Nafissi, Atchayaram Nalini, Seena Vengalil, Kieren Hollingsworth, Chiara Marini‐Bettolo, Volker Straub, Giorgio Tasca, Jaume Bacardit, Jordi Díaz‐Manera, the Myo‐Guide Consortium

    Published 2025-06-01

    ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling. Musc...

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