Results 21 to 30 of about 256,046 (232)

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

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.
Helene J. Bustad, Marthe S. Christie, Mikko Laitaoja, Aasne K. Aarsand, Aurora Martı́nez, Janne Jänis, Juha P. Kallio   +6 more
semanticscholar   +7 more sources

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

J Inherit Metab Dis, 2019
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 ...
Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazarenko I, Phillips JD, Desnick RJ, Yasuda M.   +7 more
europepmc   +5 more sources

Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP. [PDF]

Proc Natl Acad Sci U S A, 2018
Bung N, Roy A, Chen B, Das D, Pradhan M, Yasuda M, New MI, Desnick RJ, Bulusu G.   +8 more
europepmc   +4 more sources

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

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

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. [PDF]

Hum Mol Genet, 2010
Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ.   +5 more
europepmc   +4 more sources

Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2022
Acute intermittent porphyria (AIP) is an autosomal, dominant, hereditary metabolic disease caused by an inherited deficiency of hydroxymethylbilane synthase (HMBS), a crucial enzyme in the heme biosynthetic pathway.
Angang Yang, Min Li, Hong Ma, Jie Zhang, Jie Wen, Wen Jie, B Wang, S Rudnick, B Cengia, H Bonkovsky, E Brady, N Parikh, B Navi, A Gupta, A Schweitzer, S Besur, P Schmeltzer, H Bonkovsky, W Schreiber, A Jamani, M Pudek, K Anderson, S Collins   +22 more
openalex   +3 more sources

Identification and molecular analysis of 17 novel hydroxymethylbilane synthase mutations in 69 Chinese patients with acute intermittent porphyria [PDF]

, 2021
BACKGROUND: Acute intermittent porphyria (AIP) is an autosomal dominant hereditary disease caused by mutations to the hydroxymethylbilane synthase (HMBS) gene in the heme biosynthesis pathway. AIP is a rare disease that is thought to display incomplete
Hu yuan xiang, Li wei hao, Kang ning lin, Ma Yan, Qing Teng, Mo gui ling, Wu Hong, Wang xin yang, Bi ren jie, Zhang song yun   +9 more
openalex   +2 more sources

Simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase in erythrocytes by high-performance liquid chromatography [PDF]

Biochemical Journal, 1983
A high-performance-liquid-chromatographic method is developed for the simultaneous determination of hydroxymethylbilane synthase and uroporphyrinogen III synthase activity in erythrocytes. Effective separation of uroporphyrin I and III isomers allows the accurate quantification of individual isomers and the total uroporphyrin concentration.
D. J. Wright, C.K. Lim
semanticscholar   +5 more sources

Porphyric encephalopathy in a 15-year-old girl: A case report [PDF]

SAGE Open Medical Case Reports
A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis.
Saihari S Dukkipati, Jordan Terschluse, Drew Thodeson, Angela Beavers, Melissa Muff-Luett, Claire Ives, Sookyong Koh   +6 more
doaj   +2 more sources

A simple rapid purification scheme for hydroxymethylbilane synthase from human erythrocytes [PDF]

Biochemical Journal, 1988
Hydroxymethylbilane synthase from human erythrocytes was purified 47,000-fold to greater than 95% homogeneity and 7.5% yield by a simple and rapid procedure using heat treatment (80 degrees C, in the presence of proteinase inhibitors, to convert one of two chromatographically separable forms into the other), DEAE-cellulose and Cibacron Blue F3G-A ...
Elizabeth Smythe, D. Clive Williams
openalex   +4 more sources