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  • 1
    Publication Date: 1988-12-09
    Description: Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA replacement mutation was identified that correlated with this disease in multiple families. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site, thus providing a simple diagnostic test. This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wallace, D C -- Singh, G -- Lott, M T -- Hodge, J A -- Schurr, T G -- Lezza, A M -- Elsas, L J 2nd -- Nikoskelainen, E K -- NS21328/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 1988 Dec 9;242(4884):1427-30.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3201231" target="_blank"〉PubMed〈/a〉
    Keywords: African Continental Ancestry Group ; Animals ; Arginine ; Cytochrome Reductases/*genetics ; DNA, Mitochondrial/*genetics ; European Continental Ancestry Group ; Female ; *Genes ; Georgia ; Hereditary Sensory and Motor Neuropathy/*genetics ; Histidine ; Humans ; Macromolecular Substances ; Male ; *Mutation ; NADH Dehydrogenase/*genetics ; Optic Atrophies, Hereditary/*genetics ; Pedigree ; Reference Values
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 2015-11-19
    Description: Circadian clocks are endogenous timers adjusting behaviour and physiology with the solar day. Synchronized circadian clocks improve fitness and are crucial for our physical and mental well-being. Visual and non-visual photoreceptors are responsible for synchronizing circadian clocks to light, but clock-resetting is also achieved by alternating day and night temperatures with only 2-4 degrees C difference. This temperature sensitivity is remarkable considering that the circadian clock period (~24 h) is largely independent of surrounding ambient temperatures. Here we show that Drosophila Ionotropic Receptor 25a (IR25a) is required for behavioural synchronization to low-amplitude temperature cycles. This channel is expressed in sensory neurons of internal stretch receptors previously implicated in temperature synchronization of the circadian clock. IR25a is required for temperature-synchronized clock protein oscillations in subsets of central clock neurons. Extracellular leg nerve recordings reveal temperature- and IR25a-dependent sensory responses, and IR25a misexpression confers temperature-dependent firing of heterologous neurons. We propose that IR25a is part of an input pathway to the circadian clock that detects small temperature differences. This pathway operates in the absence of known 'hot' and 'cold' sensors in the Drosophila antenna, revealing the existence of novel periphery-to-brain temperature signalling channels.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Chen, Chenghao -- Buhl, Edgar -- Xu, Min -- Croset, Vincent -- Rees, Johanna S -- Lilley, Kathryn S -- Benton, Richard -- Hodge, James J L -- Stanewsky, Ralf -- 099135/Z/12/Z/Wellcome Trust/United Kingdom -- BB/H001204/Biotechnology and Biological Sciences Research Council/United Kingdom -- BB/J0-18589/-17221/Biotechnology and Biological Sciences Research Council/United Kingdom -- England -- Nature. 2015 Nov 26;527(7579):516-20. doi: 10.1038/nature16148. Epub 2015 Nov 18.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Cell and Developmental Biology, University College London, 21 University Street, London WC1E 6DE, UK. ; School of Physiology and Pharmacology, University of Bristol, University Walk, Bristol BS8 1TD, UK. ; Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, CH-1015 Lausanne, Switzerland. ; Cambridge Centre for Proteomics, Department of Biochemistry and Cambridge Systems Biology Centre, University of Cambridge, Tennis Court Road, Cambridge CB2 1QW, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26580016" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; CLOCK Proteins/metabolism ; Circadian Clocks/*physiology ; Circadian Rhythm/*physiology ; Drosophila Proteins/genetics/*metabolism ; Drosophila melanogaster/cytology/*physiology ; Extremities/innervation ; Female ; Male ; Mechanoreceptors/cytology/metabolism ; Receptors, Ionotropic Glutamate/genetics/*metabolism ; Sensory Receptor Cells/metabolism ; *Temperature
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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