Results 1 to 10 of about 2,195 (151)

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, Jiajia Wang, Shuang Li, Jiajia Lei, Yunfeng Liu, Yan Wang, Fei Gao, Jianhong Wang, Jianhong Yin, Jing Yang   +9 more
doaj   +4 more sources

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).
Mikko Laitaoja, Aasne K Aarsand, Juha P Kallio   +2 more
exaly   +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
The enzyme hydroxymethylbilane synthase (HMBS; EC 4.3.1.8), also known as porphobilinogen deaminase, catalyses the stepwise addition of four molecules of porphobilinogen to form the linear tetrapyrrole 1-hydroxymethylbilane. Thirty years of crystal structures are surveyed in this topical review.
John R Helliwell
exaly   +5 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, Jilei Zhang, Kelly Patrick, Min Li, Jiansen Gong, Bu Xu, Qiuping Shen, Yi Yang, Lanjing Wei, Yuanyuan Zhang, Daxin Peng, Jianqiang Ye, Anil Poudel, Chengming Wang   +13 more
doaj   +5 more sources

Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria [PDF]

International Journal of Molecular Sciences, 2021
Acute intermittent porphyria (AIP) is an autosomal dominant genetic disease caused by a lack or decrease in hydroxymethylbilane synthase (HMBS) activity. It is characterized by acute nerve and visceral attacks caused by factors in the process of heme synthesis. The penetrance rate of this disease is low, and the heterogeneity is strong.
Han Xiao, Qiuhong Xiong, Changxin Wu
exaly   +5 more sources

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria [PDF]

Journal of Inherited Metabolic Disease, 2019
Abstract Acute intermittent porphyria (AIP), an autosomal dominant disorder due to the half‐normal activity of hydroxymethylbilane synthase (HMBS), is characterized by acute neurovisceral attacks that are precipitated by factors that induce heme biosynthesis.
Brenden Chen, Angelika L Erwin, Manisha Balwani   +2 more
exaly   +5 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, Anna-Elisabeth Minder, Morgan Gueuning, Franziska van Breemen, Gian Andri Thun, Maja P. Mattle-Greminger, Stefan Meyer, Alessandra Baumer, Elisabeth I. Minder, Xiaoye Schneider-Yin, Jasmin Barman-Aksözen   +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, Miranda Stattmann, Ana Cicvaric, Francisco J. Monje, Pierluca Coiro, Matej Hotka, Gerda Ricken, Johannes Hainfellner, Susanne Greber-Platzer, Makiko Yasuda, Robert J. Desnick, Daniela D. Pollak   +11 more
doaj   +2 more sources

A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria. [PDF]

Qatar Med J, 2022
Porphyrias are rare metabolic disorders caused by inherited or acquired enzymatic defects in the heme biosynthetic pathway. They are grouped into acute hepatic porphyrias and photocutaneous porphyrias. Acute intermittent porphyria, the most prevalent subtype of acute hepatic porphyrias, is caused by a mutation in the hydroxymethylbilane synthase gene ...
Ghosh R, León-Ruiz M, Singh Sardar S, Naga D, Roy D, Ghosh T, Dubey S, Benito-León J.   +7 more
europepmc   +5 more sources

HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review. [PDF]

Medicine (Baltimore), 2023
Background: Acute intermittent porphyria (AIP) is caused by a partial deficiency of hydroxymethylbilane synthase and affects heme biosynthesis. Mutations in the HMBS gene result in HMBS deficiency. AIP is a rare disease, and there been insufficient studies on it.
Li S, Lei JJ, Dong BX, Ren Y, Yang J.
europepmc   +3 more sources