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Hydroxymethylbilane synthase

Hydroxymethylbilane Synthase
the third enzyme of the heme biosynthetic pathway [RGD, Feb 2006] (from NCBI)
Top mentioned proteins: AIP, ACID, HAD, CAN, POLYMERASE
Papers on Hydroxymethylbilane Synthase
Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.
New
Reynier et al., Paris, France. In Hum Mol Genet, Oct 2015
Acute intermittent porphyria (AIP), an autosomal dominant metabolic disease (MIM #176000), is due to a deficiency of hydroxymethylbilane synthase (HMBS), which catalyzes the third step of the heme biosynthetic pathway.
Relative levels of let-7a, miR-17, miR-27b, miR-125a, miR-125b and miR-206 as potential molecular markers to evaluate grade, receptor status and molecular type in breast cancer.
New
Jagodziński et al., Poznań, Poland. In Mol Med Report, Sep 2015
A total of six known miRNAs (let‑7a, miR‑17, miR‑27b, miR‑125a, miR‑125b and miR‑206), RNU6B RNA and five mRNAs [erb‑b2 receptor tyrosine kinase 2 (ERBB2), hydroxymethylbilane synthase and polymerase (RNA) II (DNA directed) polypeptide A] were analysed pair‑wise, in order to determine which biomarker pairs best correlated with the histological groups of 27 breast cancer samples.
Selection of reference genes for quantitative real-time polymerase chain reaction in porcine embryos.
New
Rho et al., In Reprod Fertil Dev, Sep 2015
Commonly used reference genes including 18S rRNA (18S), H2A histone family, member Z (H2A), hypoxanthine phosphoribosyltransferase1 (HPRT1), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), ribosomal protein 4 (RPL4), peptidylprolyl isomerase A (PPIA), beta actin (ACTB), succinate dehydrogenase complex, subunit A (SDHA) and hydroxymethylbilane synthase (HMBS2) were analysed; most of them resulted in significantly (P < 0.05) different cycle threshold (CT) values in porcine embryos except for SDHA and H2A.
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.
New
Karras et al., Paris, France. In Kidney Int, Aug 2015
Acute intermittent porphyria (AIP) is a genetic disorder of the synthesis of heme caused by a deficiency in hydroxymethylbilane synthase (HMBS), leading to the overproduction of the porphyrin precursors δ-aminolevulinic acid and porphobilinogen.
Novel A219P mutation of hydroxymethylbilane synthase identified in a Chinese woman with acute intermittent porphyria and syndrome of inappropriate antidiuretic hormone.
New
Liu et al., Guiyang, China. In Ann Hum Genet, Jul 2015
Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder caused by deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (approved gene symbol HMBS), also known as porphobilinogen deaminase (PBGD).
Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
New
Ribeiro et al., Niterói, Brazil. In Ann Hum Genet, May 2015
Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by a deficiency of hydroxymethylbilane synthase (HMBS).
Selection of suitable reference genes for expression analysis in human glioma using RT-qPCR.
New
Walter et al., Jena, Germany. In J Neurooncol, May 2015
This study aimed at testing a panel of nine reference genes [beta-2-microglobulin, cytochrome c-1 (CYC1), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), hydroxymethylbilane synthase, hypoxanthine guanine phosphoribosyl transferase 1, ribosomal protein L13a (RPL13A), succinate dehydrogenase, TATA-box binding protein and 14-3-3 protein zeta] to identify and validate the most suitable reference genes for expression studies in human glioma of different grades (World Health Organization grades II-IV).
Insulin-like growth factor-1 mRNA isoforms and insulin-like growth factor-1 receptor mRNA expression in chronic hepatitis C.
New
Koczorowska et al., Poznań, Poland. In World J Gastroenterol, May 2015
Expression levels of IGF-1 mRNA isoforms (IGF-1A, IGF-1B, IGF-1C, P1, and P2) and IGF-1R mRNA were determined through normalization of copy numbers in samples as related to reference genes: glyceraldehyde-3-phosphate dehydrogenase and hydroxymethylbilane synthase.
Acute intermittent porphyria in Argentina: an update.
Rossetti et al., Buenos Aires, Argentina. In Biomed Res Int, 2014
A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina.
An update of clinical management of acute intermittent porphyria.
Review
Kauppinen et al., Helsinki, Finland. In Appl Clin Genet, 2014
Acute intermittent porphyria (AIP) is due to a deficiency of the third enzyme, the hydroxymethylbilane synthase, in heme biosynthesis.
Identification of Suitable Reference Genes for Real Time Quantitative Polymerase Chain Reaction Assays on Pectoralis major Muscle in Chicken (Gallus gallus ).
Duarte et al., São Cristóvão, Brazil. In Plos One, 2014
Our findings showed that hydroxymethylbilane synthase (HMBS) and hypoxanthine phosphoribosyl transferase 1 (HPRT1) are the most stable reference genes while transferrin receptor (TFRC) and beta-2-microglobulin (B2M) ranked as the least stable genes in the Pectoralis major muscle of chickens.
Neurological manifestations of acute intermittent porphyria.
Review
Kauppinen et al., Helsinki, Finland. In Cell Mol Biol (noisy-le-grand), 2008
Acute intermittent porphyria (AIP) is an inherited metabolic disease due to a deficiency of the hydroxymethylbilane synthase in the haem biosynthesis.
Acute Intermittent Porphyria
Review
Badminton et al., Seattle, United States. In Unknown Journal, 2005
CLINICAL CHARACTERISTICS: Acute intermittent porphyria (referred to as AIP in this GeneReview) results from half-normal activity of the enzyme hydroxymethylbilane synthase (HMBS).
Time-resolved and static-ensemble structural chemistry of hydroxymethylbilane synthase.
Review
Hädener et al., Manchester, United Kingdom. In Faraday Discuss, 2002
The enzyme hydroxymethylbilane synthase (HMBS, EC 4.3.1.8),
Acute intermittent porphyria: clinicopathologic correlation. Report of a case and review of the literature.
Review
Daroff et al., Cleveland, United States. In Neurology, 1997
Acute intermittent porphyria (AIP), an autosomal dominant disorder, results from a deficiency of the enzyme hydroxymethylbilane synthase.
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