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المساهمون: Samaraweera, SE, O'Keefe, LV, Van Eyk, CL, Lawlor, KT, Humphreys, DT, Suter, CM, Richards, RI

مصطلحات موضوعية: Drosophila models of human disease, RNA dominant pathogenesis, neurodegeneration, Huntington's disease, dynamic mutations, polyglutamine, repeat expansion diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1231::931190a4266191093c4ea31ed8fa2e67
https://hdl.handle.net/11541.2/121330

المؤلفون: Hewson L; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia, Australia., Choo A; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia, Australia., Webber DL; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia, Australia., Trim PJ; Proteomics, Metabolomics & MS-Imaging Core, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Snel MF; Proteomics, Metabolomics & MS-Imaging Core, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Fedele AO; Hopwood Centre for Neurobiology, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Hopwood JJ; Hopwood Centre for Neurobiology, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Hemsley KM; Childhood Dementia Research Group, Flinders Health and Medical Research Institute, Flinders University, Bedford Park, South Australia, Australia., O'Keefe LV; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia, Australia.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 340-354. Date of Electronic Publication: 2024 Jan 18.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Mucopolysaccharidosis III*/diagnosis, Animals ; Drosophila melanogaster/metabolism ; Mutation ; Heparitin Sulfate ; Neuroglia

المؤلفون: Lee CS; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, SA 5000, Australia., Choo A; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, SA 5000, Australia., Dayan S; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, SA 5000, Australia., Richards RI; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, SA 5000, Australia., O'Keefe LV; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, SA 5000, Australia.

المصدر: Cells [Cells] 2021 Jun 29; Vol. 10 (7). Date of Electronic Publication: 2021 Jun 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Fragile Sites/*genetics , WW Domain-Containing Oxidoreductase/*genetics, Animals ; Genetic Predisposition to Disease ; Genome ; Humans ; Metabolic Diseases/genetics ; Risk Factors

المؤلفون: van Eyk CL; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia 5000, Australia., Samaraweera SE; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia 5000, Australia., Scott A; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia 5000, Australia., Webber DL; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia 5000, Australia., Harvey DP; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia 5000, Australia., Mecinger O; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia 5000, Australia., O'Keefe LV; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia 5000, Australia., Cropley JE; Victor Chang Cardiac Research Institute, Lowy Packer Building, Liverpool St, Darlinghurst, Sydney 2010, Australia.; Faculty of Medicine, University of New South Wales, Kensington, New South Wales 2042, Australia., Young P; Victor Chang Cardiac Research Institute, Lowy Packer Building, Liverpool St, Darlinghurst, Sydney 2010, Australia.; Faculty of Medicine, University of New South Wales, Kensington, New South Wales 2042, Australia., Ho J; Victor Chang Cardiac Research Institute, Lowy Packer Building, Liverpool St, Darlinghurst, Sydney 2010, Australia.; Faculty of Medicine, University of New South Wales, Kensington, New South Wales 2042, Australia.; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong., Suter C; Victor Chang Cardiac Research Institute, Lowy Packer Building, Liverpool St, Darlinghurst, Sydney 2010, Australia.; Faculty of Medicine, University of New South Wales, Kensington, New South Wales 2042, Australia., Richards RI; Department of Molecular and Biomedical Science, School of Biological Sciences, The University of Adelaide, Adelaide, South Australia 5000, Australia.

المصدر: Human molecular genetics [Hum Mol Genet] 2019 Sep 15; Vol. 28 (18), pp. 3000-3012.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Mutation* , Trinucleotide Repeat Expansion*, Disease Resistance/*genetics , Host-Pathogen Interactions/*genetics , Neurodegenerative Diseases/*genetics , RNA, Double-Stranded/*genetics , Virus Diseases/*genetics, Animals ; Argonaute Proteins/metabolism ; DNA Copy Number Variations ; Dicistroviridae/physiology ; Disease Models, Animal ; Drosophila ; Drosophila Proteins/metabolism ; Neurodegenerative Diseases/complications ; Neurodegenerative Diseases/pathology ; RNA Interference ; RNA, Double-Stranded/metabolism ; RNA-Binding Proteins/metabolism ; Virus Diseases/complications ; Virus Diseases/virology

SCR Organism: Cricket paralysis virus

المؤلفون: Webber DL; Department of Genetics and Evolution, School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia., Choo A; Department of Genetics and Evolution, School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia., Hewson LJ; Department of Genetics and Evolution, School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia., Trim PJ; Hopwood Centre for Neurobiology, South Australian Health and Medical Research Institute, PO Box 11060, Adelaide, SA 5001, Australia., Snel MF; Hopwood Centre for Neurobiology, South Australian Health and Medical Research Institute, PO Box 11060, Adelaide, SA 5001, Australia., Hopwood JJ; Hopwood Centre for Neurobiology, South Australian Health and Medical Research Institute, PO Box 11060, Adelaide, SA 5001, Australia., Richards RI; Department of Genetics and Evolution, School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia., Hemsley KM; Hopwood Centre for Neurobiology, South Australian Health and Medical Research Institute, PO Box 11060, Adelaide, SA 5001, Australia., O'Keefe LV; Department of Genetics and Evolution, School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia; Hopwood Centre for Neurobiology, South Australian Health and Medical Research Institute, PO Box 11060, Adelaide, SA 5001, Australia. Electronic address: louise.okeefe@adelaide.edu.au.

المصدر: Experimental neurology [Exp Neurol] 2018 May; Vol. 303, pp. 38-47. Date of Electronic Publication: 2018 Feb 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 0370712 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2430 (Electronic) Linking ISSN: 00144886 NLM ISO Abbreviation: Exp Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Heparitin Sulfate/*metabolism , Mucopolysaccharidosis III/*drug therapy , Mucopolysaccharidosis III/*pathology , Mutation/*genetics , Neurons/*metabolism, Age Factors ; Animals ; Animals, Genetically Modified ; Autophagy/genetics ; Brain/pathology ; Disease Models, Animal ; Drosophila ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Gene Expression Regulation/genetics ; Green Fluorescent Proteins/genetics ; Green Fluorescent Proteins/metabolism ; Hydrolases/genetics ; Hydrolases/metabolism ; Larva/genetics ; Larva/metabolism ; Locomotion/genetics ; Mucopolysaccharidosis III/complications ; Mucopolysaccharidosis III/genetics ; Psychomotor Disorders/etiology ; RNA Interference/physiology ; RNA, Messenger/metabolism

المؤلفون: Richards RI; Department of Genetics and Evolution, Centre for Molecular Pathology, School of Biological Sciences, The University of Adelaide Adelaide, SA, Australia., Robertson SA; School of Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide Adelaide, SA, Australia., O'Keefe LV; Department of Genetics and Evolution, Centre for Molecular Pathology, School of Biological Sciences, The University of Adelaide Adelaide, SA, Australia., Fornarino D; Department of Genetics and Evolution, Centre for Molecular Pathology, School of Biological Sciences, The University of Adelaide Adelaide, SA, Australia., Scott A; Department of Genetics and Evolution, Centre for Molecular Pathology, School of Biological Sciences, The University of Adelaide Adelaide, SA, Australia., Lardelli M; Department of Genetics and Evolution, Centre for Molecular Pathology, School of Biological Sciences, The University of Adelaide Adelaide, SA, Australia., Baune BT; School of Medicine, Discipline of Psychiatry, The University of Adelaide Adelaide, SA, Australia.

المصدر: Frontiers in neuroscience [Front Neurosci] 2016 May 10; Vol. 10, pp. 193. Date of Electronic Publication: 2016 May 10 (Print Publication: 2016).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE