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Androgens affect muscle, motor neuron, and survival in a mouse model of SOD1-related amyotrophic lateral sclerosis

Autor: Aggarwal, Tanya, Polanco, Maria J., Scaramuzzino, Chiara, Rocchi, Anna, Milioto, Carmelo, Emionite, Laura, Ognio, Emanuela, Sambataro, Fabio, Galbiati, Mariarita, Poletti, Angelo, Pennuto, Maria

Publikováno v: In Neurobiology of Aging August 2014 35(8):1929-1938

Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown

Autor: Clayton, Emma L, Milioto, Carmelo, Muralidharan, Bhavana, Norona, Frances E, Edgar, James R, Soriano, Armand, Jafar-Nejad, Paymaan, Rigo, Frank, Collinge, John, Isaacs, Adrian M

Mutations in the endosome-associated protein CHMP2B cause frontotemporal dementia and lead to lysosomal storage pathology in neurons. We here report that physiological levels of mutant CHMP2B causes reduced numbers and significantly impaired traffick

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94df3b8e060623fa2c295e13fa77a803

Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation

Autor: Clayton, Emma L., Mancuso, Renzo, Tolstrup Nielsen, Troels, Mizielinska, Sarah, Holmes, Holly, Powell, Nicholas, Norona, Frances, Overgaard Larsen, Jytte, Milioto, Carmelo, Wilson, Katherine M., Lythgoe, Mark F., Ourselin, Sebastian, Nielsen, Jörgen E., Johannsen, Peter, Holm, Ida, Collinge, John, Oliver, Peter L., Gomez-Nicola, Diego, Isaacs, Adrian M., Gade, Anders, Englund, Elisabet, Fisher, Elizabeth, Brown, Jeremy, Stockholm, Jette, Roos, Peter, Gydesen, Susanne, Lindquist, Suzanne, Thusgaard, Tove

Publikováno v: Clayton, E L, Mancuso, R, Tolstrup Nielsen, T, Mizielinska, S, Holmes, H, Powell, N, Norona, F, Overgaard Larsen, J, Milioto, C, Wilson, K M, Lythgoe, M F, Ourselin, S, Nielsen, J E, Johannsen, P, Holm, I, Collinge, J, Oliver, P L, Gomez-Nicola, D, Isaacs, A M, Gade, A, Englund, E, Fisher, E, Brown, J, Stockholm, J, Roos, P, Gydesen, S & Lindquist, S & Thusgaard, T 2017, ' Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation ', Human Molecular Genetics, vol. 26, no. 5, ddx003, pp. 873-887 . https://doi.org/10.1093/hmg/ddx003

Frontotemporal dementia (FTD)-causing mutations in the CHMP2B gene lead to the generation of mutant C-terminally truncated CHMP2B. We report that transgenic mice expressing endogenous levels of mutant CHMP2B developed late-onset brain volume loss ass

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2761::a2506fd546a068927470a7ca9de1ceea
https://kclpure.kcl.ac.uk/en/publications/f98319eb-b042-47ad-9b58-219ea66de6fa

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