A5050139318- Porphyrin Metabolism and Disorders
- Heme Oxygenase-1 and Carbon Monoxide
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Methemoglobinemia and Tumor Lysis Syndrome
- Metabolism and Genetic Disorders
- Iron Metabolism and Disorders
- Porphyrin and Phthalocyanine Chemistry
- Hemoglobinopathies and Related Disorders
- Erythrocyte Function and Pathophysiology
- Trace Elements in Health
- Photodynamic Therapy Research Studies
- Virus-based gene therapy research
- Alcoholism and Thiamine Deficiency
- Erythropoietin and Anemia Treatment
- Cancer-related gene regulation
- Cannabis and Cannabinoid Research
- RNA Interference and Gene Delivery
- Alzheimer's disease research and treatments
- Mitochondrial Function and Pathology
- Coenzyme Q10 studies and effects
- Biochemical effects in animals
- CRISPR and Genetic Engineering
- Acne and Rosacea Treatments and Effects
- Neurological diseases and metabolism
Research Institute Hospital 12 de Octubre
2009-2024
Hospital Universitario 12 De Octubre
2009-2023
Universidad Complutense de Madrid
1985-2023
Czech Academy of Sciences, Institute of Experimental Medicine
2015
Hospital Rafael Méndez
2009
Translational Research Institute
2003
Loma Linda University
2003
Hospital Clínico San Carlos
1985-2002
University of Alberta
1995
Hospital Nuestra Señora de Alarcos
1994
Acute intermittent porphyria (AIP) results from porphobilinogen deaminase (PBGD) haploinsufficiency, which leads to hepatic over-production of the neurotoxic heme precursors (PBG) and delta-aminolevulinic acid (ALA) occurrence neurovisceral attacks. Severe AIP is a devastating disease that can only be corrected by liver transplantation. Gene therapy represents promising curative option. The objective this study was investigate safety recombinant adeno-associated vector expressing PBGD...
Abstract Background Adeno-associated vectors (rAAV) have been used to attain long-term liver gene expression. In humans, the cellular immune response poses a serious obstacle for transgene persistence while neutralizing humoral immunity curtails re-administration. Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria) benefits from transfer in mouse models and clinical trials are about begin. this work, we sought study non-human primates feasibility of repeated...
1. Erythrocyte uroporphyrinogen decarboxylase activity has been measured in 27 patients with porphyria cutanea tarda, of whom 11 had a family history overt tarda. 2. Eight from six families erythrocyte activities that were decreased to about half control values. This decrease was shown by studies be inherited as an autosomal dominant characteristic. Two these no 3. Nineteen close or within the range found 18 subjects. Of these, five 4. Inheritance gene which decreases erythrocytes and liver...
Acute intermittent porphyria (AIP) is characterized by a hereditary deficiency of hepatic porphobilinogen deaminase (PBGD) activity. Clinical features are acute neurovisceral attacks accompanied overproduction porphyrin precursors in the liver. Recurrent life-threatening can be cured only liver transplantation. We developed recombinant adeno-associated virus (rAAV) vectors expressing human PBGD protein driven liver-specific promoter to provide sustained protection against induced predictive...
Porphyria cutanea tarda (PCT) is caused by a decreased activity of the hepatic enzyme uroporphyrinogen decarboxylase (URO-D). This deficiency causes overproduction, deposition, and increased excretion uroporphyrin. Iron overload viral infections are considered aggravating factors disease. Two forms PCT have been described, as follows: familial one with an inherited decrease URO-D in all tissues sporadic restricted to liver. To assess whether returns normal during remission disease, this was...
ABSTRACT Studies of the association between porphyria cutanea tarda (PCT) and primary liver cancer have produced conflicting reports. The incidence this tumor was studied in 138 PCT patients (7.2%) 358 non‐porphyric cirrhotic (5.6%), no statistically significant differences were found them (p>0.5). Nevertheless such significantly higher (chi square=10.91, p<0.001) group (24.3%) than (6.7%) when only males with underlying cirrhosis considered. These results suggest that high is not...
The concentration of immunoreactive uroporphyrinogen decarboxylase has been measured in erythrocytes from 17 patients with porphyria cutanea tarda (PCT) 10 families, 74 their relatives, and 47 control subjects. families were divided into two groups according to erythrocyte enzyme concentrations. Group A contained four which at least subjects had overt PCT. All members these including seven PCT, normal concentrations activities. Apart family history, group clinically biochemically...
Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks when hepatic heme synthesis activated endogenous or environmental factors including fasting. While the molecular mechanisms underlying nutritional regulation of have been described, glucose homeostasis during fasting poorly understood in porphyria. Our study aimed to analyse and carbohydrate metabolism PBGD-deficient mice. To determine contribution PBGD deficiency...
Acute porphyria attacks are associated with the strong up-regulation of hepatic heme synthesis and over-production neurotoxic precursors. First-line therapy is based on carbohydrate loading. However, altered glucose homeostasis could affect its efficacy. Our first aim was to investigate prevalence insulin resistance (IR) in an observational case-control study including 44 Spanish patients acute intermittent (AIP) 55 age-, gender- BMI-matched control volunteers. Eight (18.2%) one (2.3%, p =...
Erythropoietic protoporphyria (EPP) is characterized clinically by cutaneous photosensitivity and biochemically the accumulation of excessive amounts protoporphyrin in erythrocytes, plasma, feces, other tissues, such as liver. The condition inherited an autosomal dominant or recessive trait, with a deficiency ferrochelatase activity. A major concern EPP patients development cholestasis hepatobiliary structures progressive cellular damage, which can rapidly lead to fatal hepatic failure....