Science Translational Medicine, 2022 Description Systemic and subcutaneous rApoAI-PBGD therapy protects against porphyrin precursor accumulation, pain, and motor neuropathy in AIP mice. Apoliprotein for enzyme deLIVERing Acute intermittent porphyria (AIP) is a metabolic disorder caused by ...
Karol Marcela Córdoba Quiñones +2 more
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Heme-Biosynthetic Porphobilinogen Deaminase Protects Aspergillus nidulans from Nitrosative Stress [PDF]
Applied and Environmental Microbiology, 2012 Shengmin Zhou, Naoki Takaya
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Studies on Porphobilinogen-Deaminase from Saccharomyces cerevisiae [PDF]
Zeitschrift für Naturforschung C, 1991 Abstract Porphobilinogen-deaminase from Saccharomyces cerevisiae has been isolated and partially purified 80-and 230-fold in the absence or presence of phenylmethylsulphonyl fluoride, respectively. Some properties of the isolated enzyme were studied.
Susana Raquel Correa García +2 more
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Erythrocyte porphobilinogen deaminase activity in porphyria cutanea tarda [PDF]
Clinical Chemistry, 1990 Abstract Porphyria cutanea tarda (PCT) results from a metabolic block in heme synthesis at the level of uroporphyrinogen decarboxylase. We measured the activity of one of the enzymes preceding it in the heme biosynthetic pathway, porphobilinogen deaminase (PBGD; EC 4.3.1.8), in erythrocytes of 47 patients with symptomatic or asymptomatic
Peter D. Siersema +3 more
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BioTechniques, 1999 Analysis of gene expression and its transcriptional regulation requires a reliable access to target mRNA. However, mRNA extractions from homogenized tissue are limited because only average data are obtained, and cell-specific expression may not be ...
L. Fink +5 more
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Porphyric encephalopathy in a 15-year-old girl: A case report [PDF]
SAGE Open Medical Case ReportsA 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 +6 more
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Tissue‐specific expression of porphobilinogen deaminase [PDF]
European Journal of Biochemistry, 1987 Porphobilinogen deaminase (hydroxymethylbilane synthase; EC 4.3.1.8), the third enzyme of the heme biosynthetic pathway, catalyzes the stepwise condensation of four porphobilinogen units to yield hydroxymethylbilan, which is in turn converted to uroporphyrinogen III by cosynthetase.
Bernard Grandchamp +5 more
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Unmasking Osmotic Demyelination Syndrome/Extrapontine Myelinolysis in Acute Intermittent Porphyria: Preventable Complications–Challenges in Diagnosis and Management [PDF]
Annals of Indian Academy of NeurologyAcute intermittent porphyria (AIP) is a dominant mendelian disorder caused due to deficiency of the enzyme porphobilinogen deaminase. It classically presents with pain abdomen, hypertensive crisis, electrolyte imbalance, mostly hyponatremia, and ...
Vykuntaraju K Gowda +4 more
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Porphobilinogen Deaminase Gene Mutations in Polish Patients with Non-Erythroid Acute Intermittent Porphyria [PDF]
Advances in Clinical and Experimental Medicine, 2015 BACKGROUND Acute intermittent porphyria (AIP) is an metabolic disorder characterized by a partial deficiency of the porphobilinogen deaminase, the enzyme of heme biosynthesis.
Urszula Szlendak +4 more
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Mechanism of action of porphobilinogen deaminase. The participation of stable enzyme substrate covalent intermediates between porphobilinogen and the porphobilinogen deaminase from Rhodopseudomonas spheroides. [PDF]
Biochemical Journal, 1981 Highly stable labelled complexes are formed between porphobilinogen deaminase and stoicheiometric amounts of [14C]porphobilinogen. On completion of the catalytic cycle by the addition of excess of substrate, the complexes yield labelled product and display all the properties expected from covalently bound enzyme intermediates involved in the deaminase ...
P. Jordan, A. Berry
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