Associated Papers
New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.
Di Pierro E et al.
Journal of Internal Medicine, 2026
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
Manipulation of a cation-π sandwich reveals conformational flexibility in phenylalanine hydroxylase.
Arturo EC et al.
Biochimie, 2021
Heme biosynthesis depends on previously unrecognized acquisition of iron-sulfur cofactors in human amino-levulinic acid dehydratase.
Liu G et al.
Nature Communications, 2020
Porphobilinogen synthase: An equilibrium of different assemblies in human health.
Jaffe EK
Progress in Molecular Biology and Translational Science, 2020
Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.
Yang M et al.
Nature Communications, 2019
Impact of genetic variation on three dimensional structure and function of proteins.
Bhattacharya R et al.
Plos One, 2017
A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics.
Jaffe EK et al.
Archives of Biochemistry and Biophysics, 2013
Genotype-phenotype correlations in laminopathies: how does fate translate?
Scharner J et al.
Biochemical Society Transactions, 2010
Allosteric inhibition of human porphobilinogen synthase.
Lawrence SH et al.
The Journal of Biological Chemistry, 2009
Co-synthesis of Human delta-Aminolevulinate Dehydratase (ALAD) Mutants with the Wild-type Enzyme in Cell-free System-Critical Importance of Conformation on Enzyme Activity-.
Inoue R et al.
Journal of Clinical Biochemistry and Nutrition, 2008
Kinetics and thermodynamics of the interchange of the morpheein forms of human porphobilinogen synthase.
Selwood T et al.
Biochemistry, 2008
ALAD porphyria is a conformational disease.
Jaffe EK et al.
American Journal of Human Genetics, 2007
delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations.
Akagi R et al.
Molecular Genetics and Metabolism, 2006
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.
Akagi R et al.
British Journal of Haematology, 2006
Porphyrias in Japan: compilation of all cases reported through 2002.
Kondo M et al.
International Journal of Hematology, 2004
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany.
Doss MO et al.
Journal of Inherited Metabolic Disease, 2004
A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity.
Akagi R et al.
British Journal of Haematology, 1999