نتایج جستجو برای: svm ژن pbgd

تعداد نتایج: 37720  

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه صنعتی اصفهان - دانشکده شیمی 1389

دربخش اول این پروژه تحقیقاتی اکسایش گلوتاتیون بر روی الکترود خمیرکربن- نانولوله توسط حد واسط همگن کلرپرومازین مورد بررسی و مطالعه قرار گرفت. از تکنیک ولتامتری پالس تفاضلی، ولتامتری چرخه ای وکرونوآمپرومتری بعنوان تکنیک های شناسایی و اندازه گیری استفاده شد. مطالعات ولتامتری چرخه ای موید آن است که اگر چه گلوتاتیون پیک اکسایشی مشخصی در ناحیه روبش پتانسیل بین 0/0-0/1 ولت نسبت الکترود مرجع ag/agcl نش...

Journal: :Clinical chemistry 1990
P D Siersema F W de Rooij A Edixhoven-Bosdijk J H Wilson

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 familial or sporadic PCT. PBGD activity was significantly increase...

Journal: :Blood 2001
A N Gubin J L Miller

Human porphobilinogen deaminase (PBGD) is, reportedly, encoded by 2 distinct messenger RNAs (mRNAs) transcribing from a single gene. The ubiquitous form of the PBGD gene product is often used as an endogenous reference in gene expression studies because it is pseudogene free and has minimal transcriptional variability among tissues. A distinct erythroid-specific gene product has also been descr...

Journal: :Physiological research 2006
M Hrdinka H Puy P Martasek

Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the porphobilinogen deaminase (PBGD) gene. This paper reviews published mutations, their types, and polymorphisms within the PBGD gene. To date, 301 different mutations and 21 polymorphisms have been identified in the PBGD gene in AIP patients and individuals from various cou...

2001
Alexander N. Gubin Jeffery L. Miller

Human porphobilinogen deaminase (PBGD) is, reportedly, encoded by 2 distinct messenger RNAs (mRNAs) transcribing from a single gene. The ubiquitous form of the PBGD gene product is often used as an endogenous reference in gene expression studies because it is pseudogene free and has minimal transcriptional variability among tissues. A distinct erythroid-specific gene product has also been descr...

Journal: :FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009
Gaojie Song Yang Li Chongyun Cheng Yu Zhao Ang Gao Rongguang Zhang Andrzej Joachimiak Neil Shaw Zhi-Jie Liu

Acute intermittent porphyria (AIP), an inherited disease of heme biosynthesis, is one of the most common types of porphyria. Reduced activity of the enzyme porphobilinogen deaminase (PBGD), which catalyzes the sequential condensation of 4 molecules of porphobilinogen to yield preuroporphyrinogen, has been linked to the symptoms of AIP. We have determined the 3-dimensional structure of human PBG...

2013
N. Azim E. Deery M. J. Warren P. Erskine J. B. Cooper S. P. Wood M. Akhtar

The enzyme porphobilinogen deaminase (PBGD; hydroxymethylbilane synthase; EC 2.5.1.61) catalyses an early step of the tetrapyrrole-biosynthesis pathway in which four molecules of the monopyrrole porphobilinogen are condensed to form a linear tetrapyrrole. The enzyme possesses a dipyrromethane cofactor which is covalently linked by a thioether bridge to an invariant cysteine residue. Expression ...

Journal: :Analytical chemistry 2008
Yuesong Wang C Ronald Scott Michael H Gelb Frantisek Turecek

We report a new assay of human porphobilinogen deaminase (PBGD). Deficiency in this enzyme activity causes acute intermittent porphyria, the most common disorder of heme biosynthesis. The assay involves incubation of blood erythrocyte lysate with porphobilinogen, the natural PBGD substrate. Two subsequent enzymes in the heme biosynthetic pathway, uroporphyrinogen III synthase and uroporphyrinog...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1991
L S Shashidhara A G Smith

The expression and subcellular location of porphobilinogen deaminase (PBGD, also known as hydroxymethylbilane synthase; EC 4.3.1.8), one of the early enzymes of porphyrin synthesis, was investigated in light-grown Euglena and in three cell lines that do not contain chlorophyll: dark-grown Euglena, a streptomycin-bleached mutant, and Astasia longa. In wild-type Euglena, immunogold electron micro...

Journal: :Journal of hepatology 2016
Delia D'Avola Esperanza López-Franco Bruno Sangro Astrid Pañeda Nadina Grossios Irene Gil-Farina Alberto Benito Jaap Twisk María Paz Juan Ruiz Manfred Schmidt Harald Petry Pauline Harper Rafael Enríquez de Salamanca Antonio Fontanellas Jesús Prieto Gloria González-Aseguinolaza

BACKGROUND & AIMS Acute intermittent porphyria (AIP) results from porphobilinogen deaminase (PBGD) haploinsufficiency, which leads to hepatic over-production of the neurotoxic heme precursors porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) and the occurrence of neurovisceral attacks. Severe AIP is a devastating disease that can only be corrected by liver transplantation. Gene therapy ...

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