Publicacions en col·laboració amb investigadors/es de Centro de Investigación Médica Aplicada (35)

2024

  1. Exploring current and emerging therapies for porphyrias

    Liver International, Vol. 44, Núm. 9, pp. 2174-2190

  2. Porphyrins and the porphyrias

    Liver International

  3. Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates

    Gut

2023

  1. Nutritional Interventions with Bacillus coagulans Improved Glucose Metabolism and Hyperinsulinemia in Mice with Acute Intermittent Porphyria

    International Journal of Molecular Sciences, Vol. 24, Núm. 15

  2. Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria

    International Journal of Molecular Sciences, Vol. 24, Núm. 1

2022

  1. Mechanistic modelling of enzyme-restoration effects of new recombinant liver-targeted proteins in acute intermittent porphyria

    British Journal of Pharmacology, Vol. 179, Núm. 14, pp. 3815-3830

  2. Messenger RNA as a personalized therapy: The moment of truth for rare metabolic diseases

    International Review of Cell and Molecular Biology (Elsevier Inc.), pp. 55-96

  3. Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment

    Life, Vol. 12, Núm. 11

  4. Recombinant porphobilinogen deaminase targeted to the liver corrects enzymopenia in a mouse model of acute intermittent porphyria

    Science Translational Medicine, Vol. 14, Núm. 627

2021

  1. Acute intermittent porphyria, givosiran, and homocysteine

    Journal of Inherited Metabolic Disease

  2. Diagnosis and management of inborn errors of metabolism in adult patients in the emergency department

    Diagnostics, Vol. 11, Núm. 11

  3. mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks

    Molecular Therapy - Nucleic Acids, Vol. 25, pp. 207-219

2020

  1. Brain ventricular enlargement in human and murine acute intermittent porphyria

    Human molecular genetics, Vol. 29, Núm. 19, pp. 3211-3223

  2. Disease pharmacokinetic–pharmacodynamic modelling in acute intermittent porphyria to support the development of mRNA-based therapies

    British Journal of Pharmacology, Vol. 177, Núm. 14, pp. 3168-3182

2019

  1. Messenger RNA therapy for rare genetic metabolic diseases

    Gut, Vol. 68, Núm. 7, pp. 1323-1330

  2. Non-parenchymal TREM-2 protects the liver from immune-mediated hepatocellular damage

    Gut, Vol. 68, Núm. 3, pp. 533-546

2018

  1. An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria

    Human Gene Therapy, Vol. 29, Núm. 4, pp. 480-491

  2. Systemic messenger RNA as an etiological treatment for acute intermittent porphyria

    Nature Medicine, Vol. 24, Núm. 12, pp. 1899-1909

2016

  1. Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency

    Human Molecular Genetics, Vol. 25, Núm. 7, pp. 1318-1327

  2. Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria

    Journal of Hepatology, Vol. 65, Núm. 4, pp. 776-783