61 resultados para Neuropathy target esterase


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Leber hereditary optic neuropathy (LHON) is the most extensively studied mitochondrial disease, with the majority of the cases being caused by one of three primary mitochondrial DNA (mtDNA) mutations. Incomplete disease penetrance and gender bias are two

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The primary mutation m.3460G > A occurs with a very low frequency (similar to 1%) in Chinese patients with Leber hereditary optic neuropathy (LHON). Up to now, there is no comprehensive study of Chinese patients harboring this mutation. We characterized six unrelated probands with m.3460G > A in this study, which were identified from 1,626 patients with LHON or suspected with LHON. The overall penetrance of LHON (25.6% [10/39]) in four pedigrees with m.3460G > A was substantially lower than those families with m.11778G > A (33.3% [619/1859]) as reported in our previous study. Intriguingly, family Le688 with a heteroplasmic m.3460G > A presented a lower penetrance (12.5%) than the other three families with a homoplasmic mutation. There is an elevated gender bias (affected male to affected female = 4:1) in the four families with m.3460G > A compared to those LHON families with m.11778G > A (2.4:1). Complete mtDNA sequencing indicated that the six matrilines belonged to haplogroups B4d1, F2, A5b, M12a, D4b2b, and D4b2, respectively. We did not identify any potential secondary mutation(s) that will affect or be associated with the penetrance of LHON in the six probands by using an evolutionary analysis and protein secondary-structure prediction. Taken together, our results suggested that the m.3460G > A mutation occurred multiple times in Chinese LHON patients. The heteroplasmic status of mutation m.3460G > A might influence the penetrance of LHON in family Le688.

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Acid-sensing ion channels (ASICs) are emerging as fundamental players in the regulation of neural plasticity and in pathological conditions. Here we showed that lead (Pb2+), a well known neurotoxic metal ion, reversibly and concentration-dependently inhib

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The genes encoding triosephosphate isomerase (TIM) in three species of Microcystis (M. aeruginosa, M. viridis and M. wesenbergii) were investigated. Reverse transcriptase-polymerase chain reaction indicated that they were transcribed in the cells. Analyses showed that their DNA and deduced amino acid sequences were highly conserved between all the three species, only a single nonsynonymous substitution was seen at position 31, from an Asp in M. aeruginosa and M. viridis to Glu in M. wesenbergii. Sequence alignment of these with 12 other known cyanobacterial TIM sequences showed that all the cyanobacterial TIMs had a very high level of amino acid identity (over 50% between each two). Comparison of the cyanobacterial TIMs with other reported TIMs (from diverse lineages of the three Domains) showed that they possessed common active-site residues and sequence motifs. All cyanobacterial TIMs have two common cysteine residues (Cys127 and Cys176), and the Cys176 is almost cyanobacteria-specific with only one exception in Streptomyces coelicolor. Both secondary structure alignment and comparative modelling of Synechocystis sp. TIM showed that Cys176 was located at the hinge region of the flexible loop-6 and might therefore be critical to the movement of TIM's loop-6, which is important to the function of the enzyme. Thus, the cyanobacterial TIM-specific Cys176 may be a potential site for the discovery of suitable drugs against cyanobacteria, and such drugs may have utility in controlling water blooms due to cyanobacteria.

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Mitochondrial DNA background has been shown to be involved in the penetrance of Leber's hereditary optic neuropathy (LHON) in western Eurasian populations. To analyze mtDNA haplogroup distribution pattern in Han Chinese patients with LHON and G11778A muta

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Co-occurrence of double pathogenic mtDNA mutations with different claimed pathological roles in one mtDNA is infrequent. It is tentative to believe that each of these pathogenic mutations would have its own deleterious effect. Here we reported one three-g

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Leber hereditary optic neuropathy (LHON) was the first disease to be linked to the presence of a mitochondrial DNA (mtDNA) mutation. Nowadays over 95% of LHON cases are known to be caused by one of three primary mutations (m.11778G>A, m.14484T>C, and m.34

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In most parts of China, mosquitoes have been subjected to organophosphate (OP) insecticide treatments since the mid-1960s, and resistance gene monitoring in the Culex pipiens complex (Diptera: Culicidae) started in only a few locations from the end of the 1980s. Many resistant alleles at the Ester locus have been found in field populations, including those commonly found around the world (Ester(B1) and Ester(2)), and those endemic to China (Ester(B6), Ester(B7), Ester(8), and Ester(9)). This situation is atypical, and may represent a complex situation for the evolution of insecticide resistance genes in China. To increase our understanding of the Chinese situation and our ability to manage resistance in the C. pipiens complex, a large study was performed. Twenty field populations were sampled from Beijing to Guangzhou. Bioassays with five insecticides (dichlorvos, parathion, chlorpyrifos, 2-sec-butylphenyl methyl carbamate, and propoxur) disclosed resistance levels variable according to the geographic origin, and up to 85-fold for dichlorvos. Six overproduced esterases were identified, including two that have not been previously described. Most of them were found in all samples, although at variable frequencies, suggesting variable selection or a transient situation, e.g., each one was recently restricted to a particular geographic area. The results are discussed in the context of recent alterations to insecticide campaigns, and of the evolution of resistance genes in Chinese C. pipiens populations.

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C-axis-orientated ZnO thin films were prepared on glass substrates by pulsed-laser deposition (PLD) technique in an oxygen-reactive atmosphere, using a metallic Zn target. The effects of growth condition such as laser energy and substrate temperature on the structural and optical properties of ZnO films had been investigated by X-ray diffraction (XRD), scanning electron microscopy (SEM), transmission spectra and room-temperature (RT) photoluminescence (PL) measurements. The results showed that the thickness, crystallite size, and compactness of ZnO films increased with the laser energy and substrate temperature. Both the absorption edges and the UV emission peaks of the films exhibited redshift, and UV emission intensity gradually increased as the laser energy and substrate temperature increased. From these results, it was concluded that crystalline quality of ZnO films was improved with increasing laser energy and substrate temperature. (c) 2007 Elsevier B.N. All rights reserved.

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This paper presents a novel vision chip for high-speed target tracking. Two concise algorithms for high-speed target tracking are developed. The algorithms include some basic operations that can be used to process the real-time image information during target tracking. The vision chip is implemented that is based on the algorithms and a row-parallel architecture. A prototype chip has 64 x 64 pixels is fabricated by 0.35 pm complementary metal-oxide-semiconductor transistor (CMOS) process with 4.5 x 2.5 mm(2) area. It operates at a rate of 1000 frames per second with 10 MHz chip main clock. The experiment results demonstrate that a high-speed target can be tracked in complex static background and a high-speed target among other high-speed objects can be tracked in clean background.

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ZnO thin films with highly c-axis orientation have been fabricated on p-type Si(1 1 1) substrates at 400 degrees C by pulsed laser deposition (PLD) from a metallic Zn target with oxygen pressures between 0.1 and 0.7 mbar. Experimental results indicate that the films deposited at 0.3 and 0.5 mbar have better crystalline and optical quality and flatter surfaces than the films prepared at other pressures. The full width at half maximum (FWHM) of (0 0 0 2) diffraction peak decreases remarkably from 0.46 to 0.19 degrees with increasing annealing temperature for the film prepared at 0.3 mbar. In photoluminescence (PL) spectra at room temperature, the annealed film at 700 degrees C exhibits a smaller ultraviolet (UV) peak FWHM of 108 meV than the as-grown film (119 meV). However, an enhanced deep-level emission is observed. Possible origins to above results are discussed. (c) 2006 Elsevier B.V. All rights reserved.

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This paper describes the ground target detection, classification and sensor fusion problems in distributed fiber seismic sensor network. Compared with conventional piezoelectric seismic sensor used in UGS, fiber optic sensor has advantages of high sensitivity and resistance to electromagnetic disturbance. We have developed a fiber seismic sensor network for target detection and classification. However, ground target recognition based on seismic sensor is a very challenging problem because of the non-stationary characteristic of seismic signal and complicated real life application environment. To solve these difficulties, we study robust feature extraction and classification algorithms adapted to fiber sensor network. An united multi-feature (UMF) method is used. An adaptive threshold detection algorithm is proposed to minimize the false alarm rate. Three kinds of targets comprise personnel, wheeled vehicle and tracked vehicle are concerned in the system. The classification simulation result shows that the SVM classifier outperforms the GMM and BPNN. The sensor fusion method based on D-S evidence theory is discussed to fully utilize information of fiber sensor array and improve overall performance of the system. A field experiment is organized to test the performance of fiber sensor network and gather real signal of targets for classification testing.