Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Giuseppa, Pennetta"'
1
Akademický článek
Membrane and synaptic defects leading to neurodegeneration in Adar mutant Drosophila are rescued by increased autophagy
Autor: Anzer Khan, Simona Paro, Leeanne McGurk, Nagraj Sambrani, Marion C. Hogg, James Brindle, Giuseppa Pennetta, Liam P. Keegan, Mary A. O’Connell
Publikováno v: BMC Biology, Vol 18, Iss 1, Pp 1-16 (2020)
Abstract Background In fly brains, the Drosophila Adar (adenosine deaminase acting on RNA) enzyme edits hundreds of transcripts to generate edited isoforms of encoded proteins. Nearly all editing events are absent or less efficient in larvae but incr
Externí odkaz: https://doaj.org/article/323d1e7d06d14570890fd338280d2cc2
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2
Akademický článek
Proteomic profiling of neuronal mitochondria reveals modulators of synaptic architecture
Autor: Laura C. Graham, Samantha L. Eaton, Paula J. Brunton, Abdelmadjid Atrih, Colin Smith, Douglas J. Lamont, Thomas H. Gillingwater, Giuseppa Pennetta, Paul Skehel, Thomas M. Wishart
Publikováno v: Molecular Neurodegeneration, Vol 12, Iss 1, Pp 1-16 (2017)
Abstract Background Neurons are highly polarized cells consisting of three distinct functional domains: the cell body (and associated dendrites), the axon and the synapse. Previously, it was believed that the clinical phenotypes of neurodegenerative
Externí odkaz: https://doaj.org/article/0e5d6236a27f4b718ca0a780e7bcc4c4
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3
Akademický článek
Comparison of independent screens on differentially vulnerable motor neurons reveals alpha-synuclein as a common modifier in motor neuron diseases.
Autor: Rachel A Kline, Kevin A Kaifer, Erkan Y Osman, Francesco Carella, Ariana Tiberi, Jolill Ross, Giuseppa Pennetta, Christian L Lorson, Lyndsay M Murray
Publikováno v: PLoS Genetics, Vol 13, Iss 3, p e1006680 (2017)
The term "motor neuron disease" encompasses a spectrum of disorders in which motor neurons are the primary pathological target. However, in both patients and animal models of these diseases, not all motor neurons are equally vulnerable, in that while
Externí odkaz: https://doaj.org/article/d673597e1150452e92e8cc023c4e4a97
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4
Akademický článek
Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles
Autor: Mario Sanhueza, Luigi Zechini, Trudy Gillespie, Giuseppa Pennetta
Publikováno v: Biology Open, Vol 3, Iss 1, Pp 59-71 (2013)
Summary Amyotrophic Lateral Sclerosis (ALS) is a motor neuron degenerative disease characterized by a progressive, and ultimately fatal, muscle paralysis. The human VAMP-Associated Protein B (hVAPB) is the causative gene of ALS type 8. Previous studi
Externí odkaz: https://doaj.org/article/01b7f8780b47445eb2db71da6501fe09
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5
Akademický článek
Network analyses reveal novel aspects of ALS pathogenesis.
Autor: Mario Sanhueza, Andrea Chai, Colin Smith, Brett A McCray, T Ian Simpson, J Paul Taylor, Giuseppa Pennetta
Publikováno v: PLoS Genetics, Vol 11, Iss 3, p e1005107 (2015)
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by selective loss of motor neurons, muscle atrophy and paralysis. Mutations in the human VAMP-associated protein B (hVAPB) cause a heterogeneous group of motor neu
Externí odkaz: https://doaj.org/article/ea8df7dd89a2486ca6d1a795c71fefc7
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6
Membrane and synaptic defects leading to neurodegeneration in Adar mutant Drosophila are rescued by increased autophagy
Autor: Giuseppa Pennetta, James Brindle, Leeanne McGurk, Nagraj Sambrani, Simona Paro, Mary A. O’Connell, Liam Keegan, Marion C. Hogg, Anzer Khan
Publikováno v: Khan, A, Paro, S, McGurk, L, Sambrani, N, Hogg, M C, Brindle, J, Pennetta, G, Keegan, L P & O'Connell, M A 2020, ' Membrane and synaptic defects leading to neurodegeneration in Adar mutant Drosophila are rescued by increased autophagy ', BMC Biology, vol. 18, no. 1, pp. 15 . https://doi.org/10.1186/s12915-020-0747-0
BMC Biology
BMC Biology, Vol 18, Iss 1, Pp 1-16 (2020)
BackgroundIn fly brains, theDrosophilaAdar (adenosine deaminase acting on RNA) enzyme edits hundreds of transcripts to generate edited isoforms of encoded proteins. Nearly all editing events are absent or less efficient in larvae but increase at meta
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6755339eefd4472c31a666346d790ae
https://www.pure.ed.ac.uk/ws/files/139106310/Khan_Paro_McGurk_27.01.20.pdf
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7
Emerging Links between Lipid Droplets and Motor Neuron Diseases
Autor: Michael A. Welte, Giuseppa Pennetta
Publikováno v: Pennetta, G & Welte, M A 2018, ' Emerging Links between Lipid Droplets and Motor Neuron Diseases ', Developmental Cell, vol. 45, no. 4, pp. 427-432 . https://doi.org/10.1016/j.devcel.2018.05.002
Lipid droplets (LDs) are ubiquitous fat storage organelles and play key roles in lipid metabolism and energy homeostasis; in addition, they contribute to protein storage, folding, and degradation. However, a role for LDs in the nervous system remains
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1eec688289f3fd258b20168fe0b3d4a
https://www.pure.ed.ac.uk/ws/files/67305019/DEVCEL_4207.pdf
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8
Sideroflexin 3 is an α-synuclein-dependent mitochondrial protein that regulates synaptic morphology
Autor: Inês S, Amorim, Laura C, Graham, Roderick N, Carter, Nicholas M, Morton, Fella, Hammachi, Tilo, Kunath, Giuseppa, Pennetta, Sarah M, Carpanini, Jean C, Manson, Douglas J, Lamont, Thomas M, Wishart, Thomas H, Gillingwater
Publikováno v: Journal of Cell Science
α-Synuclein plays a central role in Parkinson's disease, where it contributes to the vulnerability of synapses to degeneration. However, the downstream mechanisms through which α-synuclein controls synaptic stability and degeneration are not fully
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bd5cd3ca723a90c81b06b084e5d18c6e
https://pubmed.ncbi.nlm.nih.gov/28049716
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10
Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis*
Autor: Han-Jou Chen, Georgia Anagnostou, Jason Adhikaree, James Withers, Andrea Chai, Alex G. Morris, Giuseppa Pennetta, Jackie de Belleroche
Publikováno v: The Journal of Biological Chemistry
Chen, H-J, Anagnostou, G, Chai, A, Withers, J, Morris, A, Adhikaree, J, Pennetta, G & de Belleroche, J S 2010, ' Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis ', Journal of Biological Chemistry, vol. 285, no. 51, pp. 40266-40281 . https://doi.org/10.1074/jbc.M110.161398
Following the mutation screening of genes known to cause amyotrophic lateral sclerosis (ALS) in index cases from 107 familial ALS (FALS) kindred, a point mutation was identified in vesicle-associated membrane protein-associated protein B (VAPB), or V
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddd73566baf183761208f3a9160962a6
http://europepmc.org/articles/PMC3001007
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