622 research outputs found
Portrait of the English anthropologist Gregory Bateson, New Guinea, 1929 [picture] /
No full textPart of the collection: Sarah Chinnery photographic collection of New Guinea, England and Australia.; Gregory Bateson, famous English anthropologist, New Guinea research in Bainings and Sepik, eventually lived and worked in the United States. Author of "Naven" and other works. -- Accompanying notes from family.; Inscription: "1929" -- On label. "Gregory Bateson, 'Naven' and other works" -- In red ink.; Sarah Chinnery no.: Part 2.; Also available in an electronic version via the internet at: http://nla.gov.au/nla.pic-vn4506462
Portrait of the anthropologist Professor Hortense Powdermaker from Queens, New York, in New Guinea, 1929 [picture] /
No full textPart of the collection: Sarah Chinnery photographic collection of New Guinea, England and Australia.; Inscriptions: "Professor Hortense Powdermaker, (Queens N.Y., U.S.A.) 'Life in Lesso [i.e. Lesu]' and other works" --In red ink. "1929" -- In pencil.; Professor Hortense Powdermaker, American anthropologist 1929 research in Lesu, New Ireland, New Guinea. Author of "Life in Lesu" and other works. -- Accompanying notes from family.; Sarah Chinnery no.: Part 2.; Also available in an electronic version via the internet at: http://nla.gov.au/nla.pic-vn4506463
Portrait of Bill Harney the "Keeper of Uluru", Black Rock, Victoria, ca. 1955, 3 [picture] /
No full textPart of the collection: Sarah Chinnery photographic collection of New Guinea, England and Australia.; Bill Harney, Patrol Officer, Northern Territory. Later was keeper of Uluru, poet, author, at Chinnery's Black Rock home. -- Accompanying notes from family.; Condition: Scratched.; Also available in an electronic version via the internet at: http://nla.gov.au/nla.pic-vn4554174
197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies. 26-28 April 2013, Naarden, The Netherlands
No full textN.A
Disturbed mitochondrial dynamics and neurodegenerative disorders
No full textMitochondria form a highly interconnected tubular network throughout the cell via a dynamic process, with mitochondrial segments fusing and breaking apart continuously. Strong evidence has emerged to implicate disturbed mitochondrial fusion and fission as central pathological components underpinning a number of childhood and adult-onset neurodegenerative disorders. Several proteins that regulate the morphology of the mitochondrial network have been identified, the most widely studied of which are optic atrophy 1 and mitofusin 2. Pathogenic mutations that disrupt these two pro-fusion proteins cause autosomal dominant optic atrophy and axonal Charcot-Marie-Tooth disease type 2A, respectively. These disorders predominantly affect specialized neurons that require precise shuttling of mitochondria over long axonal distances. Considerable insight has also been gained by carefully dissecting the deleterious consequences of imbalances in mitochondrial fusion and fission on respiratory chain function, mitochondrial quality control (mitophagy), and programmed cell death. Interestingly, these cellular processes are also implicated in more-common complex neurodegenerative disorders, such as Alzheimer disease and Parkinson disease, indicating a common pathological thread and a close relationship with mitochondrial structure, function and localization. Understanding how these fundamental processes become disrupted will prove crucial to the development of therapies for the growing number of neurodegenerative disorders linked to disturbed mitochondrial dynamic
Mitochondrial DNA does not contribute to the heritability of non-alcoholic fatty liver disease
No full textAbstract not availableNimantha de Alwis, Guruprasad Aithal, Elizabetta Bugianesi, Julian Leathart, Gavin Hudson, Angela Pyle, Catherine Mowbray, Elsbeth Henderson, Alistair D. Burt, Patrick F. Chinnery, Christopher P. Da
A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization
No full textIn the absence of a comprehensive experimentally derived mitochondrial proteome, several bioinformatic approaches have been developed to aid the identification of novel mitochondrial disease genes within mapped nuclear genetic loci. Often, many classifiers are combined to increase the sensitivity and specificity of the predictions. Here we show that the greatest sensitivity and specificity are obtained by using a combination of seven carefully selected classifiers. We also show that increasing the number of independent prediction methods can paradoxically decrease the accuracy of predicting mitochondrial localization. This approach will help to accelerate the identification of new mitochondrial disease genes by providing a principled way for the selection for combination of appropriate prediction methods of mitochondrial localization of proteins
Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy
No full textFocal neurodegeneration of the optic nerve in Leber hereditary optic neuropathy (LHON) is primarily due to a maternally inherited mitochondrial DNA mutation. However, the markedly reduced penetrance of LHON and segregation pattern of visual failure within families implicates an interacting nuclear genetic locus modulating the phenotype. Folate deficiency is known to cause bilateral optic neuropathy, and defects of folate metabolism have been associated with nonarteritic ischemic optic neuropathy
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