TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis   总被引：1，自引：0，他引：1  

Sreedharan J  Blair IP  Tripathi VB  Hu X  Vance C  Rogelj B  Ackerley S  Durnall JC  Williams KL  Buratti E  Baralle F  de Belleroche J  Mitchell JD  Leigh PN  Al-Chalabi A  Miller CC  Nicholson G  Shaw CE 《Science (New York, N.Y.)》2008,319(5870):1668-1672

Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 in the nervous system is uncertain, and a mechanistic role in neurodegeneration remains speculative. We identified neighboring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases. TARDBPM337V segregated with disease within one kindred and a genome-wide scan confirmed that linkage was restricted to chromosome 1p36, which contains the TARDBP locus. Mutant forms of TDP-43 fragmented in vitro more readily than wild type and, in vivo, caused neural apoptosis and developmental delay in the chick embryo. Our evidence suggests a pathophysiological link between TDP-43 and ALS.  相似文献   

Dimensionality control of electronic phase transitions in nickel-oxide superlattices     

Boris AV  Matiks Y  Benckiser E  Frano A  Popovich P  Hinkov V  Wochner P  Castro-Colin M  Detemple E  Malik VK  Bernhard C  Prokscha T  Suter A  Salman Z  Morenzoni E  Cristiani G  Habermeier HU  Keimer B 《Science (New York, N.Y.)》2011,332(6032):937-940

The competition between collective quantum phases in materials with strongly correlated electrons depends sensitively on the dimensionality of the electron system, which is difficult to control by standard solid-state chemistry. We have fabricated superlattices of the paramagnetic metal lanthanum nickelate (LaNiO(3)) and the wide-gap insulator lanthanum aluminate (LaAlO(3)) with atomically precise layer sequences. We used optical ellipsometry and low-energy muon spin rotation to show that superlattices with LaNiO(3) as thin as two unit cells undergo a sequence of collective metal-insulator and antiferromagnetic transitions as a function of decreasing temperature, whereas samples with thicker LaNiO(3) layers remain metallic and paramagnetic at all temperatures. Metal-oxide superlattices thus allow control of the dimensionality and collective phase behavior of correlated-electron systems.  相似文献   

Heterochromatic silencing and HP1 localization in Drosophila are dependent on the RNAi machinery     

Pal-Bhadra M  Leibovitch BA  Gandhi SG  Rao M  Bhadra U  Birchler JA  Elgin SC 《Science (New York, N.Y.)》2004,303(5658):669-672

Genes normally resident in euchromatic domains are silenced when packaged into heterochromatin, as exemplified in Drosophila melanogaster by position effect variegation (PEV). Loss-of-function mutations resulting in suppression of PEV have identified critical components of heterochromatin, including proteins HP1, HP2, and histone H3 lysine 9 methyltransferase. Here, we demonstrate that this silencing is dependent on the RNA interference machinery, using tandem mini-white arrays and white transgenes in heterochromatin to show loss of silencing as a result of mutations in piwi, aubergine, or spindle-E (homeless), which encode RNAi components. These mutations result in reduction of H3 Lys9 methylation and delocalization of HP1 and HP2, most dramatically in spindle-E mutants.  相似文献   

Advanced solid phase extraction using molecularly imprinted polymers for the determination of quercetin in red wine   总被引：5，自引：0，他引：5  

Molinelli A  Weiss R  Mizaikoff B 《Journal of agricultural and food chemistry》2002,50(7):1804-1808

Solid phase extraction (SPE) based on molecularly imprinted polymers (MIPs) is a novel approach for sample preparation and preconcentration, gaining increased interest in the fields of environmental, clinical, and food analysis. The first application combining MIPs with SPE for advanced beverage analysis is reported. MIPs for the flavonoid quercetin have been generated, using quercetin as a template molecule in a self-assembly approach and yielding imprinting of 1% of the used template. The MIP achieved a capacity of 0.4 g quercetin per gram polymer and a recovery rate of 98.2%. The application of these synthetic receptors as SPE material for the selective extraction and preconcentration of quercetin from synthetic and red wine samples was investigated. Red wine samples from a French Merlot were directly applied onto the SPE cartridge. The collected fractions were analyzed by high-pressure liquid chromatography. For verification of the obtained results, a similarly prepared nonimprinted polymer and a classical octadecyl silane reversed-phase cartridge were applied as the SPE matrix during control experiments. The MIP enabled the selective extraction of quercetin from a complex matrix, such as red wine, spiked with 8.8 mg per liter quercetin, demonstrating the potential of molecularly imprinted solid phase extraction for rapid, selective, and cost-effective sample pretreatment.  相似文献   

Trace Element Concentrations in the Tissues of Proteus Anguinus (Amphibia,Caudata) and the Surrounding Environment     

Bulog  Boris  Mihajl  Katarina  Jeran  Zvonka  Toman  Mihael J. 《Water, air, and soil pollution》2002,136(1-4):147-163

Water, Air, &; Soil Pollution - The concentrations of some essential (Cu, Zn, Se) and some toxicelements (Hg, As) were determined in tissues (liver, kidneys, integument, and muscle) of the...  相似文献   

Species composition of arbuscular mycorrhizal fungi in two mountain meadows with differing management types and levels of plant biodiversity   总被引：1，自引：0，他引：1  

Boris Börstler  Carsten Renker  Ansgar Kahmen  François Buscot 《Biology and Fertility of Soils》2006,42(4):286-298

Species composition of arbuscular mycorrhizal fungi (AMF) was analysed in two differently managed mountain grasslands in Thuringia (Germany). Arbuscular mycorrhizal fungi were studied in the roots of 18 dominant plant species from a total of 56 (32%). Additionally, spores of AMF were isolated from soil samples. Arbuscular mycorrhizal fungi species composition was analysed based on 96 sequences of the internal transcribed spacer of the nuclear ribosomal DNA, 72 originated from mycorrhizal roots, and 24 originated from AMF spores. Phylogenetic analyses revealed a total of 19 AMF species representing all genera of the Glomeromycota except Scutellospora and Pacispora. Despite a different farming intensity, resulting in remarkable differences concerning their plant species diversity (27 against 43 plant species), the diversity of AMF was found to be similar with 11 species on the intensively farmed meadow and ten species on the extensively farmed one. Nevertheless, species composition between both sites was clearly different. It thus seems likely that the AMF species composition, but not necessarily the species number, is related to above ground plant biodiversity in the system under study.  相似文献   

Early Maya writing at San Bartolo, Guatemala     

Saturno WA  Stuart D  Beltrán B 《Science (New York, N.Y.)》2006,311(5765):1281-1283

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Impacts of biodiversity loss on ocean ecosystem services   总被引：1，自引：0，他引：1  

Worm B  Barbier EB  Beaumont N  Duffy JE  Folke C  Halpern BS  Jackson JB  Lotze HK  Micheli F  Palumbi SR  Sala E  Selkoe KA  Stachowicz JJ  Watson R 《Science (New York, N.Y.)》2006,314(5800):787-790

Human-dominated marine ecosystems are experiencing accelerating loss of populations and species, with largely unknown consequences. We analyzed local experiments, long-term regional time series, and global fisheries data to test how biodiversity loss affects marine ecosystem services across temporal and spatial scales. Overall, rates of resource collapse increased and recovery potential, stability, and water quality decreased exponentially with declining diversity. Restoration of biodiversity, in contrast, increased productivity fourfold and decreased variability by 21%, on average. We conclude that marine biodiversity loss is increasingly impairing the ocean's capacity to provide food, maintain water quality, and recover from perturbations. Yet available data suggest that at this point, these trends are still reversible.  相似文献   

Effects of Rotation and Osteotomy Angulation on Patellar Tendon Insertion Position during Circular Tibial Tuberosity Osteotomy     

Gian Luca Rovesti DVM  Diplomate ECVS  Nikola Katic DVM  Boris Dalpozzo DVM  Francesco Dondi DVM  PhD  Gilles Dupré DVM  Diplomate ECVS 《Veterinary surgery : VS》2013,42(1):51-59

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A landscape model for quantifying the trade-off between conservation needs and economic constraints in the management of a semi-natural grassland community     

Boris Schröder  Michael Rudner  Robert Biedermann 《Biological conservation》2008,141(3):719-732

We present a landscape model to investigate the ecological consequences and costs of different management regimes in semi-natural grasslands. The model integrates dynamic abiotic conditions, management (i.e. disturbance) regime and response of more than 50 characteristic plant and insect species by modelling the dynamics of relevant niche parameters as predictors for species distribution models. We compare our results for exemplary scenarios differing in spatial and temporal scales and exemplary species belonging to different functional groups through several steps of aggregation.Our analysis aims at the question whether an infrequent massive disturbance by rototilling can serve as a less expensive alternative to annual mowing for preserving the characteristic species composition of open dry grasslands in Southern Germany. Rototilling results in a shifting mosaic determining the habitat quality for plant and animal species that may reduce the survival of local or regional populations.For some meadow species as well as the encroaching shrub species, rototilling has a detrimental effect on regional habitat quality. Other species, e.g. weeds and annual pioneers, strongly benefit or show only negligible reaction. Since this is a multi-objective problem, there is a no magic bullet in selecting an optimum scenario of measures. But by visualising the trade-off between ecological consequences and costs, our model is a valuable tool for conservation managers providing a sound scientific basis for management decisions relying on available ecological knowledge. It is also an interesting example for a model describing complex communities in a relatively simple way, simultaneously considering the main driving factors.  相似文献