Search results for "OTU"
showing 10 items of 2539 documents
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
2014
SummaryExome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specificall…
Improvement of interaction in and properties of PMMA-MWNT nanocomposites through microwave assisted acid treatment of MWNT
2013
Soluble derivatives of multi-walled carbon nanotubes (MWNT) embedded in a poly(methylmethacrylate) (PMMA) matrix forming thick, homogeneous and transparent nanocomposites, were prepared and characterized. A new photo-assisted method using microwaves, to purify the MWNTs from amorphous carbon and synthesis catalyst clusters, was tested in a sulphonitric mix. This method shortened the processing time compared to other methods. Pristine and functionalized MWNTs were introduced into the MMA, then in situ photo-polymerized. Transmission electron microscopy (TEM) and X-ray diffractometry (XRD), as well as Fourier-transform infrared (FTIR), Raman and nuclear magnetic resonance (NMR) spectroscopy w…
Clay-based drug-delivery systems: what does the future hold?
2017
Clays for drug delivery have been used from ancient time due to the large availability of clay minerals and their unprecedented properties. The empirical use of nanoclays from the past is converted in a stimulating scientific task aimed at building up nanoarchitectonic vehicles for drug delivery in a targeted and stimuli-responsive fashion. Here the historical aspects are discussed; next the modern examples of applications of different clay-based materials are discussed. A special focus is given to halloysite clay nanotubes, which are an emerging and very promising nanomaterial for drug-delivery purposes due to its special morphology and unique chemical properties. Advantages and limitatio…
Synthesis, cytotoxicity, and inhibitory effects on tubulin polymerization of a new 3-heterocyclo substituted 2-styrylquinazolinones
2004
In order to study the influence of 3-substitution on the cytotoxic activity of 2-styrylquinazolinones, new 6-chloro-2-styryl-3-(heteroaryl)-4(3H)-quinazolinones were synthesized by refluxing equimolar amounts of 6-chloro-2-methyl-3-(heteroaryl)-4(3H)-quinazolinones and benzaldehyde in glacial acetic acid. At 1 microg ml(-1) concentration, almost all 2-styrylquinazolinones showed some cytotoxic activity against the L1210 and K562 leukemia cell lines. However, only 6-chloro-2-styryl-3-(pyrimidin-2yl)-4(3H)-quinazolinone inhibited the growth of these cells by over 50%. This last compound was also the only member of the series that inhibited tubulin polymerization, with an IC(50) value of 5.8 v…
Isoindolo[2,1-a]quinoxaline derivatives, novel potent antitumor agents with dual inhibition of tubulin polymerization and topoisomerase I.
2008
Isoindoloquinoxalines 4 and 5 were obtained by refluxing 2-(2'-aminoaryl)-1-cyanoisoindoles 3a- e in acetic or formic acid. All derivatives were screened by the National Cancer Institute (Bethesda, MD) for the in vitro one dose primary anticancer assay against a 3-cell line panel. Compounds 4a- e, screened against a panel of about 60 human tumor cell lines, showed remarkable antineoplastic activity; they had GI 50 values in the low micromolar or submicromolar range and reached, in the case of 4c, nanomolar concentrations on 88% of the 59 tested cell lines. Flow cytometric analysis of cell cycle after treatment with 4c demonstrated an arrest of the cell cycle in G2/M phase. This effect was a…
A Comparative Ultrastructural Investigation of Some Nannochloris Species (Chlorococcales) with Particular Reference to the Systematic Position of Nan…
1989
Nanochlorum eucaryotum was described by Wilhelm et al. (1982) as a new algal species with an uncertain taxonomic position. Whereas some features were chlorococcacean, others suggested an isolated position in the sense of a “pre-eucaryote” (Wilhelm, 1983; Zahn, 1984; Geisert et al., 1987). Our comparative ultrastructural, physiological and biochemical examinations of coccoid microalgae (Menzel, 1988) gave no arguments for the separation of Nanochlorum eucaryotum from the genus Nannochloris. This paper is concerned with the ultrastructural composition of the cell wall and mode of reproduction in Nanochlorum eucaryotum as well as in three Nannochloris species. The systematic position of Nanoch…
Metallothionein Gene Family in the Sea Urchin Paracentrotus lividus: Gene Structure, Differential Expression and Phylogenetic Analysis
2017
Metallothioneins (MT) are small and cysteine-rich proteins that bind metal ions such as zinc, copper, cadmium, and nickel. In order to shed some light on MT gene structure and evolution, we cloned seven Paracentrotus lividus MT genes, comparing them to Echinodermata and Chordata genes. Moreover, we performed a phylogenetic analysis of 32 MTs from different classes of echinoderms and 13 MTs from the most ancient chordates, highlighting the relationships between them. Since MTs have multiple roles in the cells, we performed RT-qPCR and in situ hybridization experiments to understand better MT functions in sea urchin embryos. Results showed that the expression of MTs is regulated throughout de…
Surface plasmons and vibrations of self-assembled silver nanocolumns
2006
6 pags. ; 5 figs. 1 tab.
N-doped carbon networks: alternative materials tracing new routes for activating molecular hydrogen.
2014
The fragmentation of molecular hydrogen on N-doped carbon networks was investigated by using molecular (polyaromatic macrocycles) as well as truncated and periodic (carbon nanotubes) models. The computational study was focused on the ergonicity analysis of the reaction and on the properties of the transition states involved when constellations of three or four pyridinic nitrogen atom defects are present in the carbon network. Calculations show that whenever N-defects are embedded in species characterized by large conjugated π-systems, either in polyaromatic macrocycles or carbon nanotubes, the corresponding H2 bond cleavage is largely exergonic. The fragmentation Gibbs free energy is affect…
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021
International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal pathfinding during brain developmental processes. Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules. Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intel…