Publicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (47)

2024

  1. Exploring current and emerging therapies for porphyrias

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

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