Results 1 to 10 of about 256,046 (232)

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   +7 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   +8 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).
Marthe S. Christie, Mikko Laitaoja, Aasne K. Aarsand, Juha P. Kallio, Helene J. Bustad   +4 more
doaj   +7 more sources

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

Int J Mol Sci, 2021
Acute intermittent porphyria (AIP) is an autosomal dominant genetic disease caused by a lack or decrease in hydroxymethylbilane synthase (HMBS) activity.
Zhang Y, Xiao H, Xiong Q, Wu C, Li P.
europepmc   +7 more sources

The crystal structures of the enzyme hydroxymethylbilane synthase, also known as porphobilinogen deaminase. [PDF]

Acta Crystallogr F Struct Biol Commun, 2021
Thirty years of crystal structures of the enzyme hydroxymethylbilane synthase are surveyed in this topical review. These crystal structures aim at the elucidation of the structural basis of the complex reaction mechanism involving the formation of ...
Helliwell JR.
europepmc   +6 more sources

Plasmodium falciparum hydroxymethylbilane synthase does not house any cosynthase activity within the haem biosynthetic pathway. [PDF]

Microbiology (Reading), 2021
The production of uroporphyrinogen III, the universal progenitor of macrocyclic, modified tetrapyrroles, is produced from aminolaevulinic acid (ALA) by a conserved pathway involving three enzymes: porphobilinogen synthase (PBGS), hydroxymethylbilane ...
Scott AF, Deery E, Lawrence AD, Warren MJ.   +3 more
europepmc   +11 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   +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, Fei Han, Qianlong Chen, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Jian Cao, Xiaoqing Li   +8 more
doaj   +6 more sources

Real-time PCR of the mammalian hydroxymethylbilane synthase (HMBS) gene for analysis of flea (Ctenocephalides felis) feeding patterns on dogs [PDF]

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, Mount Jane, Butler Jamie, Gao Dongya, Jung Euisun, Blagburn Byron L, Kaltenboeck Bernhard   +6 more
doaj   +6 more sources

Crystal structures of hydroxymethylbilane synthase complexed with a substrate analog: a single substrate-binding site for four consecutive condensation steps. [PDF]

Biochem J, 2021
Hydroxymethylbilane synthase (HMBS), which is involved in the heme biosynthesis pathway, has a dipyrromethane cofactor and combines four porphobilinogen (PBG) molecules to form a linear tetrapyrrole, hydroxymethylbilane.
Sato H, Sugishima M, Tsukaguchi M, Masuko T, Iijima M, Takano M, Omata Y, Hirabayashi K, Wada K, Hisaeda Y, Yamamoto K.   +10 more
europepmc   +4 more sources