نتایج جستجو برای: aptx gene

تعداد نتایج: 1141372  

2014
Abrey J. Yeo Olivier J. Becherel John E. Luff Jason K. Cullen Thidathip Wongsurawat Piroon Jenjaroenpoon Vladimir A. Kuznetsov Peter J. McKinnon Martin F. Lavin

Disruption of the Setx gene, defective in ataxia oculomotor apraxia type 2 (AOA2) leads to the accumulation of DNA/RNA hybrids (R-loops), failure of meiotic recombination and infertility in mice. We report here the presence of R-loops in the testes from other autosomal recessive ataxia mouse models, which correlate with fertility in these disorders. R-loops were coincident in cells showing high...

Journal: :Molecular and cellular biology 2009
John J Reynolds Sherif F El-Khamisy Sachin Katyal Paula Clements Peter J McKinnon Keith W Caldecott

Ataxia oculomotor apraxia 1 (AOA1) results from mutations in aprataxin, a component of DNA strand break repair that removes AMP from 5' termini. Despite this, global rates of chromosomal strand break repair are normal in a variety of AOA1 and other aprataxin-defective cells. Here we show that short-patch single-strand break repair (SSBR) in AOA1 cell extracts bypasses the point of aprataxin act...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم پزشکی 1391

مطالعات انجام شده روی مکانیسمهای تکوینی و تکاملی گلبولهای قرمز منجر به دستیابی بشر به مفاهیم پایه و مهمی در ارتباط با مکانیسمهای عمومی تنظیم بیان ژن وشکل گیری بافتها شده است. تمایز اختصاصی به رده ارتیروئید و هر رده دیگری، شدیداً وابسته به تنظیم در سطح بیان ژن و فاکتورهای کنترلی خاص نظیر سیتوکین ها، فاکتورهای نسخه برداری ویژه، عناصر کنترل کننده چرخه سلولی، تکثیر،آپوپتوز و عناصر سیگنالینگ داخل سلو...

Journal: :Brain : a journal of neurology 2003
Isabelle Le Ber Maria-Ceù Moreira Sophie Rivaud-Péchoux Céline Chamayou François Ochsner Thierry Kuntzer Marc Tardieu Gérard Saïd Marie-Odile Habert Geneviève Demarquay Christian Tannier Jean-Marie Beis Alexis Brice Michel Koenig Alexandra Dürr

Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identified 14 patients (nine families) with five different missens...

Journal: :Human molecular genetics 2009
Janelle L Harris Burkhard Jakob Gisela Taucher-Scholz Grigory L Dianov Olivier J Becherel Martin F Lavin

Aprataxin, defective in the neurodegenerative disorder ataxia oculomotor apraxia type 1 (AOA1), is a DNA repair protein that processes the product of abortive ligations, 5' adenylated DNA. In addition to its interaction with the single-strand break repair protein XRCC1, aprataxin also interacts with poly-ADP ribose polymerase 1 (PARP-1), a key player in the detection of DNA single-strand breaks...

Journal: :Methods in enzymology 2011
B B Ward N J Bouskill

Ammonia-oxidizing bacteria (AOB) and archaea (AOA) transform ammonium to nitrite, an essential step in the complete mineralization of organic matter, leading to the accumulation of nitrate in oxic environments. The diversity and community composition of both groups have been extensively explored by sequence analysis of both 16S rRNA and amoA (encoding the critical enzyme, ammonia monooxygenase ...

Journal: :Journal of colloid and interface science 2009
Song Yang Huarong Liu Haofeng Huang Zhicheng Zhang

We herein report a novel and facile approach to the fabrication of the superparamagnetic magnetite/poly(styrene-co-12-acryloxy-9-octadecenoic acid) nanocomposite microspheres with controllable structure via gamma-ray radiation induced inverse emulsion polymerization under room temperature and at ambient pressure. 12-Acryloxy-9-octadecenoic acid (AOA, containing part of sodium salts Na-AOA) as a...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تبریز - دانشکده کشاورزی 1390

تنش دمای پایین یکی از مهم ترین عوامل محیطی است که عملکرد گیاهان را محدود می نماید. شبکه وسیعی از ژن های مختلف در تنظیم تحمل گیاه به این تنش نقش ایفا می نمایند. در این تحقیق، نخست 921 عدد از ژن های مذکور از تحقیقات و مقالات معتبر علمی استخراج گردید و سپس به منظور شناسایی ژن های مشابه با آنها در ژنوم کامل دو گیاه سیب (malus domestica)و انگور (vitis vinifera)، توالی آمینو اسیدی این ژن ها در گیاه م...

Journal: :Biochemical Society transactions 2009
John J Reynolds Sherif F El-Khamisy Keith W Caldecott

AOA1 (ataxia oculomotor apraxia-1) results from mutations in aprataxin, a component of DNA strand break repair that removes AMP from 5'-termini. In the present article, we provide an overview of this disease and review recent experiments demonstrating that short-patch repair of oxidative single-strand breaks in AOA1 cell extracts bypasses the point of aprataxin action and stalls at the final st...

Journal: :Applied and environmental microbiology 2009
Nicole S Moin Katelyn A Nelson Alexander Bush Anne E Bernhard

Diversity and abundance of ammonia-oxidizing Betaproteobacteria (beta-AOB) and archaea (AOA) were investigated in a New England salt marsh at sites dominated by short or tall Spartina alterniflora (SAS and SAT sites, respectively) or Spartina patens (SP site). AOA amoA gene richness was higher than beta-AOB amoA richness at SAT and SP, but AOA and beta-AOB richness were similar at SAS. beta-AOB...

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