Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function [PDF]
FEBS Open Bio, 2022 Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole 1‐hydroxymethylbilane (HMB).
Marthe S Christie +2 more
exaly +5 more sources
Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene [PDF]
Frontiers in Genetics, 2023 Background: Molecular genetic testing is the most sensitive and specific method to confirm acute intermittent porphyria (AIP), a rare autosomal dominant disease, caused by Hydroxymethylbilane synthase (HMBS) gene mutation.
Yi Ren +9 more
doaj +4 more sources
Hydroxymethylbilane synthase (HMBS) gene-based endogenous internal control for avian species [PDF]
AMB Express, 2020 With PCR becoming one of the most important and widely-used diagnostic tools for infectious diseases of poultry, an urgent need has developed for an endogenous internal control (EIC) that monitors the quality and quantity of poultry DNA in test samples ...
Yaoyao Wang +13 more
doaj +4 more sources
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report [PDF]
Journal of Medical Case ReportsBackground Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht +6 more
doaj +5 more sources
Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown.
Jing Yang +8 more
doaj +3 more sources
The crystal structures of the enzyme hydroxymethylbilane synthase, also known as porphobilinogen deaminase [PDF]
Acta Crystallographica Section F, Structural Biology Communications, 2021 John Helliwell
exaly +4 more sources
Real-time PCR of the mammalian hydroxymethylbilane synthase (HMBS) gene for analysis of flea (
Parasites & Vectors, 2012 Background Precise data on quantitative kinetics of blood feeding of fleas, particularly immediately after contact with the host, are essential for understanding dynamics of flea-borne disease transmission and for evaluating flea control strategies ...
Wang Chengming +6 more
doaj +4 more sources
Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria [PDF]
International Journal of Molecular Sciences, 2021 Han Xiao, Qiuhong Xiong, Ping Li
exaly +4 more sources
First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria [PDF]
Life, 2023 Acute porphyrias are a group of monogenetic inborn errors of heme biosynthesis, characterized by acute and potentially life-threatening neurovisceral attacks upon exposure to certain triggering factors.
Adrian Belosevic +10 more
doaj +2 more sources
Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria [PDF]
Acta Neuropathologica Communications, 2020 Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of heme biosynthesis due to a pathogenic mutation in the Hmbs gene, resulting in half-normal activity of hydroxymethylbilane synthase.
Stefanie Berger +11 more
doaj +2 more sources