NMDA receptor channels play a significant role in learning and memory and their dysfunction can cause neuronal cell death leading to dementia. Research had shown that lipids change the risk for dementia, especially so...NMDA receptor channels play a significant role in learning and memory and their dysfunction can cause neuronal cell death leading to dementia. Research had shown that lipids change the risk for dementia, especially some omega-3 lipids appear to lower Alz-heimer’s risk, yet only limited research exists on the modulation of NMDA receptor channels by lipids. Here we review recent literature concerning molecular determinants that influence the NMDA receptor channel gating via membrane lipids and fatty acids with profound significance for understanding how altered NMDA signalling leads to neuronal cell death linked to age-related dementia’s. Future discovery of lipid-like modulators of NMDA receptor function offer the potential for the development of new bioceu-ticals and affordable nutritional supplements to combat neuronal degeneration as well as to promote well being and healthy aging.展开更多
Next-generation sequencing(NGS) technologies generate thousands to millions of genetic variants per sample.Identification of potential disease-causal variants is labor intensive as it relies on filtering using various...Next-generation sequencing(NGS) technologies generate thousands to millions of genetic variants per sample.Identification of potential disease-causal variants is labor intensive as it relies on filtering using various annotation metrics and consideration of multiple pathogenicity prediction scores.We have developed VPOT(variant prioritization ordering tool),a python-based command line tool that allows researchers to create a single fully customizable pathogenicity ranking score from any number of annotation values,each with a user-defined weighting.The use of VPOT can be informative when analyzing entire cohorts,as variants in a cohort can be prioritized.VPOT also provides additional functions to allow variant filtering based on a candidate gene list or by affected status in a family pedigree.VPOT outperforms similar tools in terms of efficacy,flexibility,scalability,and computational performance.VPOT is freely available for public use at Git Hub(https://github.com/VCCRI/VPOT/).Documentation for installation along with a user tutorial,a default parameter file,and test data are provided.展开更多
文摘NMDA receptor channels play a significant role in learning and memory and their dysfunction can cause neuronal cell death leading to dementia. Research had shown that lipids change the risk for dementia, especially some omega-3 lipids appear to lower Alz-heimer’s risk, yet only limited research exists on the modulation of NMDA receptor channels by lipids. Here we review recent literature concerning molecular determinants that influence the NMDA receptor channel gating via membrane lipids and fatty acids with profound significance for understanding how altered NMDA signalling leads to neuronal cell death linked to age-related dementia’s. Future discovery of lipid-like modulators of NMDA receptor function offer the potential for the development of new bioceu-ticals and affordable nutritional supplements to combat neuronal degeneration as well as to promote well being and healthy aging.
基金an Australian Postgraduate Award(University of New South Wales)to EI,Chain Reaction(The Ultimate Corporate Bike Challenge),the Office of Health and Medical Research,NSW Government,Australiathe National Health and Medical Research Council Principal Research Fellowship(Grant No.1135886)to SLD,NSW Government,Australiathe National Heart Foundation of Australia Future Leader Fellowship(Grant No.101204)to EG.
文摘Next-generation sequencing(NGS) technologies generate thousands to millions of genetic variants per sample.Identification of potential disease-causal variants is labor intensive as it relies on filtering using various annotation metrics and consideration of multiple pathogenicity prediction scores.We have developed VPOT(variant prioritization ordering tool),a python-based command line tool that allows researchers to create a single fully customizable pathogenicity ranking score from any number of annotation values,each with a user-defined weighting.The use of VPOT can be informative when analyzing entire cohorts,as variants in a cohort can be prioritized.VPOT also provides additional functions to allow variant filtering based on a candidate gene list or by affected status in a family pedigree.VPOT outperforms similar tools in terms of efficacy,flexibility,scalability,and computational performance.VPOT is freely available for public use at Git Hub(https://github.com/VCCRI/VPOT/).Documentation for installation along with a user tutorial,a default parameter file,and test data are provided.
