Associated Papers
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
Biorxiv : the Preprint Server for Biology, 2023
Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.
Molina L et al.
Journal of Hepatology, 2022
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Bustad HJ et al.
International Journal of Molecular Sciences, 2021
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.
Lenglet H et al.
Human Molecular Genetics, 2018
Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria.
Gill R et al.
The Biochemical Journal, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
Hrdinka M et al.
Physiological Research, 2006
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
Poblete-Gutiérrez P et al.
Physiological Research, 2006
Gene-environmental interactions: Lessons from porphyria.
Sassa S
Environmental Health and Preventive Medicine, 2003
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Kauppinen R et al.
Clinical Chemistry, 2002
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
Puy H et al.
American Journal of Human Genetics, 1997
Review: molecular pathogenesis of hepatic acute porphyrias.
Grandchamp B et al.
Journal of Gastroenterology and Hepatology, 1996
The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
Brownlie PD et al.
Protein Science : a Publication of the Protein Society, 1994
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Astrin KH et al.
Human Mutation, 1994
Mutagenesis of arginine residues in the catalytic cleft of Escherichia coli porphobilinogen deaminase that affects dipyrromethane cofactor assembly and tetrapyrrole chain initiation and elongation.
Jordan PM et al.
The Biochemical Journal, 1991
Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding.
Lander M et al.
The Biochemical Journal, 1991