Parkinson’s disease (PD) is the most common neurodegenerative movement disorder, affecting 1% of the population over 65 years characterized clinically by both motor and non-motor symptoms accompanied by the preferential loss of dopamine neurons in the substantia nigra pars compacta. Here, we sequenced the exomes of 244 Parkinson’s patients selected from the Oxford Parkinson’s Disease Centre Discovery Cohort and, after quality control, 228 exomes were available for analyses. The PD patient exomes were compared to 884 control exomes selected from the UK10K datasets. No single non-synonymous (NS) single nucleotide variant (SNV) nor any gene carrying a higher burden of NS SNVs was significantly associated with PD status after multiple-testing correction. However, significant enrichments of genes whose proteins have roles in the extracellular matrix were amongst the top 300 genes with the most significantly associated NS SNVs, while regions associated with PD by a recent Genome Wide Association (GWA) study were enriched in genes containing PD-associated NS SNVs. By examining genes within GWA regions possessing rare PD-associated SNVs, we identified RAD51B. The protein-product of RAD51B interacts with that of its paralogue RAD51, which is associated with congenital mirror movements phenotypes, a phenotype also comorbid with PD.
This report describes a method for obtaining the concentrations of the total and individual alcohol ethoxylate (AE) species in sewage treatment plant (STP) effluents by using electrospray liquid chromatography/mass spectrometry (LC/MS). This is a more advantageous method for quantitative analysis of AE in environmental matrices as compared with a previous thermospray LC/MS method. This new method is more sensitive, uses less solvents, utilizes a deuterated internal standard blend [C 13 D 27 O(CH 2 CH 2 O) n H, where n varies from 0 to 21 with an average of n = 9], which corresponds more closely to the AE, and it is a more robust instrumental technique. In this report, we document the results for validation of the electrospray LC/MS method by spike recovery of AE from STP effluent and influent samples. JAOCS 74, 765-773 (1997).
The oxidative stability of alcohol ethoxylates during storage and handling is studied. Realistic conditions are modelled by heating in quiescent air. More rigorous, extensively aerated conditions are modelled by thermogravimetry with mass spectrometric detection and differential scanning calorimetry with vapor-phase sampling.In quiescent air, C12_15 alcohol with an average of 7 moles ethylene oxide (EO) is discolored at 204°C, with some increase in aldehydes, but there is no change in the EO distribution of the sample. Under extensively aerated conditions, increased oxidation occurs above 150°C, with a loss of one EO unit on average, and increases in CO and CO 2 occur in the vapor phase above the sample. High-temperature oxidation under extensive aeration is not affected by an antioxidant or by raising the pH of the sample from 6.4 to 7.5. 72, 811-816 (1995). JAOCS
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