Results 11 to 20 of about 164,160 (174)

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, Ping Li, Changxin Wu
exaly   +6 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   +6 more sources

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

Microbiology (Reading), 2021
Abstract 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 synthase (HmbS) and uroporphyrinogen III synthase (UroS ...
Scott AF, Deery E, Lawrence AD, Warren MJ.   +3 more
europepmc   +11 more sources

Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma. [PDF]

J Hepatol, 2022
Acute intermittent porphyria (AIP), caused by heterozygous germline mutations of the heme synthesis pathway enzyme HMBS (hydroxymethylbilane synthase), confers a high risk of hepatocellular carcinoma (HCC) development. Yet, the role of HMBS in liver tumorigenesis remains unclear.Herein, we explore HMBS alterations in a large series of 758 HCC cases ...
Molina L, Zhu J, Trépo E, Bayard Q, Amaddeo G, GENTHEP Consortium, Blanc JF, Calderaro J, Ma X, Zucman-Rossi J, Letouzé E.   +10 more
europepmc   +7 more sources

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

Journal of Inherited Metabolic Disease, 2019
AbstractAcute 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. Molecular diagnosis is the most sensitive and specific diagnostic test for AIP, and importantly,
Robert J. Desnick, Manisha Balwani, Angelika L Erwin   +2 more
exaly   +5 more sources

Structure and Mechanism of Action of Hydroxymethylbilane Synthase

CHIMIA, 1999
The structure and mode of action of a vital enzyme involved in the biosynthesis of tetrapyrroles have been studied by using modern crystallographic and pre-steady-state kinetic methods.
Alfons Hädener
doaj   +2 more sources

Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding [PDF]

Biochemical Journal, 1991
The role of conserved arginine residues in hydroxymethylbilane synthase was investigated by replacing these residues in the enzyme from Escherichia coli with leucine residues by using site-directed mutagenesis. The kinetic parameters for these mutant enzymes and studies on the formation of intermediate enzyme-substrate complexes indicate that several ...
Lander, M., Pitt, A. R., Alefounder, P. R., Bardy, D., Abell, C., Battersby, A. R.   +5 more
openaire   +4 more sources

One ring closer to a closure: the crystal structure of the ES ₃ hydroxymethylbilane synthase intermediate

The FEBS Journal, 2023
Hydroxymethylbilane synthase (HMBS), involved in haem biosynthesis, catalyses the head‐to‐tail coupling of four porphobilinogens (PBGs) via a dipyrromethane (DPM) cofactor. DPM is composed of two PBGs, and a hexapyrrole is built before the tetrapyrrolic 1‐hydroxymethylbilane product is released.
Helene J. Bustad, Marthe S. Christie, Mikko Laitaoja, Aasne K. Aarsand, Aurora Martinez, Janne Jänis, Juha P. Kallio   +6 more
core   +7 more sources

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

Genetics and Molecular Biology, 2007
Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.
Georgina Severo Ribeiro, Paulo Eurípedes Marchiori, Mário Hiroyuki Hirata, Ivanise Rebecchi, Adriana Natsue Ozaki, Maria Aparecida Nagai, Mariana Lopes dos Santos, Raimundo Antonio Gomes Oliveira, Orlando Cesar de Oliveira Barretto   +8 more
doaj   +2 more sources

Time-resolved and static-ensemble structural chemistry of hydroxymethylbilane synthase

Faraday Discuss., 2003
The enzyme hydroxymethylbilane synthase (HMBS, EC 4.3.1.8), 313 amino acid residues and MW 34 kDa, also known as porphobilinogen deaminase (PBGD), catalyses the stepwise polymerization of four molecules of porphobilinogen (PBG) to the linear tetrapyrrole 1-hydroxymethylbilane. Several crystallographic structures of HMBS have been previously determined,
John R, Helliwell, Yeu Perng, Nieh, Jarjis, Habash, Paul F, Faulder, James, Raftery, Michele, Cianci, Michael, Wulff, Alfons, Hädener   +7 more
openaire   +3 more sources