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HMBS encodes a member of the hydroxymethylbilane synthase superfamily. Zusätzlich bieten wir Ihnen Hydroxymethylbilane Synthase Proteine (12) und Hydroxymethylbilane Synthase Kits (9) und viele weitere Produktgruppen zu diesem Protein an.
Showing 10 out of 85 products:
Human Polyclonal HMBS Primary Antibody für IF, WB - ABIN516532
Anand, Wilson, Hasan, Maytin: Vitamin D3 enhances the apoptotic response of epithelial tumors to aminolevulinate-based photodynamic therapy. in Cancer research 2011
Cow (Bovine) Polyclonal HMBS Primary Antibody für WB - ABIN2785718
Kuo, Lee, Chuang, Huang: Acute intermittent porphyria with peripheral neuropathy: a follow-up study after hematin treatment. in Journal of the neurological sciences 2007
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Cow (Bovine) Polyclonal HMBS Primary Antibody für WB - ABIN2785719
Malone, Rosman, Szoke, Davis: Myelination of brain in experimental hypothyroidism. An electron-microscopic and biochemical study of purified myelin isolates. in Journal of the neurological sciences 1975
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After a diagnostic odyssey, his urine porphobilinogen was found to be significantly elevated and genetic testing showed a previously unreported consensus splice-site mutation IVS4-1G>A in the HMBS gene confirming the diagnosis of Acute Intermittent Porphyria (AIP (zeige AIP Antikörper))
The authors describe the biochemical characterisation of expressed HMBS mutants in a black South African population. This reveals insight into the mechanism of catalytic activity loss, which may inspire investigation into individualised therapy based on the molecular lesion identified.
ALAS1 (zeige ALAS1 Antikörper) mRNA and activity were elevated approximately ~3- and 5-fold, and HMB synthase activity was approximately half-normal (~42%)
in the hepatic cancer tissue of two acute porphyria patients, somatic second-hit mutations result in nearly complete inactivation of PPOX (zeige OX Antikörper) and HMBS
study of hydroxymethylbilane synthase mutations and polymorphisms in Brazilian families with acute intermittent porphyria
Letter/Case Report: R173W mutation of HMBS gene can cause rhabdomyolysis in patients with variant acute intermittent porphyria.
we report a novel PBGD missense mutation.
Novel porphobilinogen deaminase gene mutations have been described in Polish patients with non-erythroid acute intermittent porphyria.
Conformational stability and activity of hydroxymethylbilane synthase (HMSB) and the acute intermittent porphyria K132N and V215E HMSB mutations.
Dense geographic aggregation with one identical haplotype strongly suggests a remote founder phenomenon for these Venezuelan acute intermittent porphyria families, carrying an unreported but most frequent HMBS mutation.
PBGD-deficient mice showed a different response to fasting as measured by altered carbohydrate metabolism in the liver and modified glucose consumption in the brain cortex. Glucose homeostasis in fasted PBGD-deficient mice was efficiently normalized after restoration of PBGD gene expression in the liver.
Porphobilinogen deaminase over-expression in hepatocytes, albeit in a low proportion, reduced precursor accumulation, which is the hallmark of acute porphyric attacks.
PBGD-deficient mice were characterized biochemically during phenobarbital induction of heme synthesis and enzyme replacement.
The interactions observed between the two pyrrole rings of the HEMC dipyrromethane cofactor and the active-site residues are highly specific and are most likely to represent the catalytically relevant binding mode.
Porphobilinogen deaminase deficiency alters vegetative and reproductive development and causes lesions in Arabidopsis.
Crystallization and preliminary X-ray characterization of the tetrapyrrole-biosynthetic enzyme porphobilinogen deaminase from Arabidopsis thaliana. [porphobilinogen deaminase]
This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described.
, porphyria, acute; Chester type
, pre-uroporphyrinogen synthase
, uroporphyrinogen I synthase
, uroporphyrinogen I synthetase
, alternative name: porphobilinogen deaminase
, hydroxymethylbilane synthase
, Hydroxymethylbilane synthase
, porphobilinogen deaminase-like
, Porphobilinogen deaminase