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
Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia-a family study.
Al Kindi S et al.
Frontiers in Medicine, 2024
Structural basis for dysregulation of aminolevulinic acid synthase in human disease.
Taylor JL et al.
The Journal of Biological Chemistry, 2022
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Di Pierro E et al.
British Journal of Haematology, 2016
Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
Fratz EJ et al.
Biochemistry, 2015
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
Ducamp S et al.
Human Molecular Genetics, 2013
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
Bishop DF et al.
Molecular Medicine (cambridge, Mass.), 2013
The carboxyl-terminal region of erythroid-specific 5-aminolevulinate synthase acts as an intrinsic modifier for its catalytic activity and protein stability.
Kadirvel S et al.
Experimental Hematology, 2012
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
To-Figueras J et al.
Blood, 2011
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