Results 11 to 20 of about 295,934 (166)

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report [PDF]

Journal of Medical Case Reports
Background Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, Martin Häusler   +6 more
doaj   +3 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

Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report. [PDF]

World J Clin Cases, 2022
Acute intermittent porphyria (AIP) is a rare autosomal dominant porphyrin metabolic disease caused by a mutation in the hydroxymethylbilane synthase (HMBS) gene. This study aimed to explore the clinical manifestations of a patient with AIP, to identify a novel HMBS gene mutation in the proband and some of her family members, and to confirm the ...
Zhou YQ, Wang XQ, Jiang J, Huang SL, Dai ZJ, Kong QQ.   +5 more
europepmc   +4 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   +10 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   +3 more sources

Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria [PDF]

Bioscience Reports, 2013
The autosomal dominantly inherited disease AIP (acute intermittent porphyria) is caused by mutations in HMBS [hydroxymethylbilane synthase; also known as PBG (porphobilinogen) deaminase], the third enzyme in the haem biosynthesis pathway.
Aurora Martinez, Karen Toska, Helene J. Bustad, Marta Vorland, Eva Rønneseth, Sverre Sandberg   +5 more
doaj   +3 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   +4 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

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
openaire   +6 more sources

Hydroxymethylbilane Synthase Gene Mutation: The Hidden Driver of Abdominal Pain and Neurological Symptoms in Acute Intermittent Porphyria

Journal of Applied Hematology
Mutations in the hydroxymethylbilane synthase (HMBS) gene can lead to a deficiency of the HMBS enzyme, allowing porphyrins to accumulate to toxic levels in the liver and other organs, leading to acute intermittent porphyria (AIP).
Abeer Zakariyah*, Rahaf Alzahrani, Iman Alhazmi, Alia Abotaleb, Mohammed Alasmari, Abdulrahim Basendwah, Rasha Alsubaie, Muhammad Sohaib Khan, Leena Alnajjar, Sultan Altouri   +9 more
doaj   +2 more sources