Research projects
Start of main content
Molecular basis of congenital erythropoietic porphyria. In vivo stability studies of uroporphyrinogen III synthase
15th National Programme for the allocation of Research Grants for Life and Matter Sciences
Rare diseases
Senior Researcher : Óscar Millet Aguilar-Galindo
Research Centre or Institution : Unidad de Biología Estructural. Centro de Investigación Cooperativa en Biociencias (CICbioGUNE). Vizcaya.
Abstract
Porphyrias are a family of autosomal diseases caused by mutations in the different enzymes responsible for biosynthesis of haem. In particular, the loss of catalytic activity in uroporphyrinogen III synthase is ultimately responsible for congenital erythropoietic porphyria (CEP). Although it is very rare (there are less than a hundred cases described on the Iberian Peninsula), the symptoms experienced by patients are very pronounced. This research project aims to study, in vivo, the changes in stability of the enzyme in the wild and for the most common pathogenic mutants. In order to establish the basis for potential therapeutic treatments the effect of different organic molecules on the in vivo stability of mutant proteins will be studied.
-
Activities related
-
Projects related
-
News related
-
Publications related
-
30
Jan
2020
International Symposium Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairments Madrid, Thursday and Friday, 30 and 31 January 2020, 9:30 hours
-
8
Apr
2024
Panel Discussion Mundo de las prótesis, los nuevos materiales, sus complicaciones y su futuro Madrid , Lunes, 8 de abril 2024. 17.00 horas
-
23
Apr
2024
Session Situación actual de las Enfermedades Raras en España Madrid, Martes, 23 de abril de 2024, 10:00 horas
- Phenotyping of animal models of rare diseases with visual disability 2020 Senior Researcher : Lluís Montoliu José Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid
- The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development 2020 Senior Researcher : Beatriz López Corcuera Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM
- Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation 2020 Senior Researcher : Pedro Redondo Bellón Research Centre or Institution : Clínica Universidad de Navarra. Pamplona
End of main content