Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.
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| Title: | Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model. |
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| Authors: | Narayanan RK; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia., Brewer MH; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia., Perez-Siles G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia., Ly C; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia., Burgess A; Cell Division Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia., Neumann B; Neuroscience Program, Monash Biomedicine Discovery Institute and Department of Anatomy and Developmental Biology, Monash University, Melbourne, Victoria 3800, Australia., Nicholson GA; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.; Molecular Medicine Laboratory, Concord General Repatriation Hospital, Sydney 2139, NSW, Australia., Vucic S; Concord Clinical School, University of Sydney, Sydney, NSW 2139, Australia., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.; Molecular Medicine Laboratory, Concord General Repatriation Hospital, Sydney 2139, NSW, Australia. |
| Source: | Human molecular genetics [Hum Mol Genet] 2021 Dec 17; Vol. 31 (1), pp. 133-145. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddab228 |
