Publications in collaboration with researchers from Hospital Universitario 12 de Octubre (47)

2024

  1. Exploring current and emerging therapies for porphyrias

    Liver International

2023

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

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

2021

  1. Acute intermittent porphyria, givosiran, and homocysteine

    Journal of Inherited Metabolic Disease

  2. High prevalence of insulin resistance in asymptomatic patients with acute intermittent porphyria and liver-targeted insulin as a novel therapeutic approach

    Biomedicines, Vol. 9, Núm. 3, pp. 1-18

  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

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. Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria

    Human Molecular Genetics, Vol. 27, Núm. 21, pp. 3688-3696

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

2015

  1. Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression

    Gene Therapy, Vol. 22, Núm. 11, pp. 856-865

  2. Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria

    Journal of Proteomics, Vol. 127, pp. 377-385

2013

  1. Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice

    Human Molecular Genetics, Vol. 22, Núm. 14, pp. 2929-2940

2012

  1. Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse

    PLoS ONE, Vol. 7, Núm. 3

2011

  1. Sustained enzymatic correction by rAAV-mediated liver gene therapy protects against induced motor neuropathy in acute porphyria mice

    Molecular Therapy, Vol. 19, Núm. 2, pp. 243-250

2010

  1. Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria

    Journal of Hepatology, Vol. 52, Núm. 3, pp. 417-424

  2. Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda

    Experimental Dermatology

2009

  1. A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma

    British Journal of Dermatology, Vol. 160, Núm. 6, pp. 1330-1334

  2. Bone marrow-derived cells promote liver regeneration in mice with erythropoietic Protoporphyria

    Transplantation, Vol. 88, Núm. 12, pp. 1332-1340

  3. Epidermal growth factor receptor ligands in murine models for erythropoietic protoporphyria: Potential novel players in the progression of liver injury

    Cellular and Molecular Biology, Vol. 55, Núm. 1, pp. 29-37