نتایج جستجو برای: ژن cps1

تعداد نتایج: 15914  

2016
Yan-Bei Yang Jian-Qing Chen Yu-Lin Zhao Jing-Wen Bai Wen-Ya Ding Yong-Hui Zhou Xue-Ying Chen Di Liu Yan-Hua Li

Streptococcus suis (S. suis) caused serious disease symptoms in humans and pigs. S. suis is able to form thick biofilms and this increases the difficulty of treatment. After growth with 1/2 minimal inhibitory concentration (MIC) of azithromycin, 1/4 MIC of azithromycin, or 1/8 MIC of azithromycin, biofilm formation of S. suis dose-dependently decreased in the present study. Furthermore, scannin...

2016
Kriti Sethi Saravanan Palani Juan C. G. Cortés Mamiko Sato Mayalagu Sevugan Mariona Ramos Shruthi Vijaykumar Masako Osumi Naweed I. Naqvi Juan Carlos Ribas Mohan Balasubramanian

Cytokinesis in many organisms requires a plasma membrane anchored actomyosin ring, whose contraction facilitates cell division. In yeast and fungi, actomyosin ring constriction is also coordinated with division septum assembly. How the actomyosin ring interacts with the plasma membrane and the plasma membrane-localized septum synthesizing machinery remains poorly understood. In Schizosaccharomy...

2017
Rihwa Choi Hyung-Doo Park Mina Yang Chang-Seok Ki Soo-Youn Lee Jong-Won Kim Junghan Song Yun Sil Chang Won Soon Park

Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient using whole exome sequencing (WES). A four-day-old female neonate presented with respiratory failure due to sev...

Journal: :Circulation. Cardiovascular genetics 2009
Guillaume Paré Daniel I Chasman Alexander N Parker Robert R Y Zee Anders Mälarstig Udo Seedorf Rory Collins Hugh Watkins Anders Hamsten Joseph P Miletich Paul M Ridker

BACKGROUND Homocysteine is a sulfur amino acid whose plasma concentration has been associated with the risk of cardiovascular diseases, neural tube defects, and loss of cognitive function in epidemiological studies. Although genetic variants of MTHFR and CBS are known to influence homocysteine concentration, common genetic determinants of homocysteine remain largely unknown. METHODS AND RESUL...

Introduction: Aspergillus fumigatus is the leading cause of invasive aspergillosis in immunocompromised patients with a high rate of mortality. Despite introduction of several classes of antifungal drugs, the limitations of current therapies have prompted an intense research toward the discovery of new antifungal compounds. In a recent study, several potential drug targets were identified based...

2013
Vedrana Milinkovic Jasna Bankovic Miodrag Rakic Tijana Stankovic Milica Skender-Gazibara Sabera Ruzdijic Nikola Tanic

Glioblastoma is the most frequent and malignant human brain tumor. High level of genomic instability detected in glioma cells implies that numerous genetic alterations accumulate during glioma pathogenesis. We investigated alterations in AP-PCR DNA profiles of 30 glioma patients, and detected specific changes in 11 genes not previously associated with this disease: LHFPL3, SGCG, HTR4, ITGB1, CP...

2016
Rob M. Moonen Giacomo Cavallaro Maurice J. Huizing Gema E. González-Luis Fabio Mosca Eduardo Villamor

The p.Thr1406Asn (rs1047891) polymorphism of the carbamoyl-phosphate synthetase 1 (CPS1) gene has been linked to functional consequences affecting the downstream availability of the nitric oxide precursor L-arginine. L-arginine concentrations are decreased in preterm infants with necrotizing enterocolitis (NEC). In this multicenter prospective study, we investigated the association of the p.Thr...

2016
Eiman H. Al Kaabi Ayman W. El-Hattab

The urea cycle is the main pathway for the disposal of excess nitrogen. Carbamoylphosphate synthetase 1 (CPS1), the first and rate-limiting enzyme of urea cycle, is activated by N-acetylglutamate (NAG), and thus N-acetylglutamate synthase (NAGS) is an essential part of the urea cycle. Although NAGS deficiency is the rarest urea cycle disorder, it is the only one that can be specifically and eff...

Journal: :The EMBO journal 2004
Ewald H Hettema Javier Valdez-Taubas Hugh R B Pelham

Membrane proteins destined for the vacuolar or lysosomal lumen are typically ubiquitinated, the ubiquitin serving as a targeting signal for the multivesicular body pathway. The RING-domain ubiquitin ligase Tul1 is an integral membrane protein that modifies the yeast vacuolar enzyme carboxypeptidase S (Cps1), the polyphosphatase Ppn1/Phm5 and other proteins containing exposed hydrophilic residue...

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