Associated Papers
Congenital erythropoietic porphyria.
To-Figueras J et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2024
Metabolic Landscape of the Mouse Liver by Quantitative 31 P Nuclear Magnetic Resonance Analysis of the Phosphorome.
Bernardo-Seisdedos G et al.
Hepatology (baltimore, Md.), 2021
Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations.
de Souza PVS et al.
Frontiers in Neuroscience, 2021
Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.
Prat F et al.
Stem Cell Reports, 2020
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Congenital erythropoietic porphyria: Recent advances.
Erwin AL et al.
Molecular Genetics and Metabolism, 2019
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.
Tchaikovskii V et al.
Molecular Medicine (cambridge, Mass.), 2019
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.
Urquiza P et al.
Science Translational Medicine, 2018
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Blouin JM et al.
Human Molecular Genetics, 2017
Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review.
Howard M et al.
Dermatology Online Journal, 2017
Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model.
Millot S et al.
Haematologica, 2017
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation.
Aguilera P et al.
The British Journal of Dermatology, 2016
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Di Pierro E et al.
British Journal of Haematology, 2016
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
Blouin JM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
To-Figueras J et al.
Blood, 2011
Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.
Bishop DF et al.
Molecular Medicine (cambridge, Mass.), 2011
Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria.
Kang TW et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2009
Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
Fortian A et al.
Biochemistry, 2009
Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
Bishop DF et al.
American Journal of Human Genetics, 2006
A knock-in mouse model of congenital erythropoietic porphyria.
Ged C et al.
Genomics, 2006
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
Desnick RJ et al.
British Journal of Haematology, 2002
Congenital erythropoietic porphyria affecting two brothers.
Herrera Saval A et al.
The British Journal of Dermatology, 1999
Congenital erythropoietic porphyria, description of a new mutation in two brothers.
Moruno Tirado A et al.
European Journal of Pediatrics, 1997
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Fontanellas A et al.
European Journal of Human Genetics : Ejhg, 1996
Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria.
To-Figueras J et al.
Blood Cells, Molecules & Diseases, 0