The integration site of the APP transgene in the J20 mouse model of Alzheimer’s disease [version 2; referees: 1 approved, 2 approved with reservations]

Autor: Justin L. Tosh, Matthew Rickman, Ellie Rhymes, Frances E. Norona, Emma Clayton, Lennart Mucke, Adrian M. Isaacs, Elizabeth M.C. Fisher, Frances K. Wiseman

Publikováno v: Wellcome Open Research, Vol 2 (2018)

Background: Transgenic animal models are a widely used and powerful tool to investigate human disease and develop therapeutic interventions. Making a transgenic mouse involves random integration of exogenous DNA into the host genome that can have the

Externí odkaz: https://doaj.org/article/5fca37a7241f424d933736833a322a32

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

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

Publikováno v: Brain : a journal of neurology. 141(12)

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=pmid________::fcef4e429f7eadfb489c40df62fd2fe9
https://pubmed.ncbi.nlm.nih.gov/30496362

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

Autor: Pietro Fratta, Karen Cleverley, Anny Devoy, Linda Partridge, Oliver Hendrich, Sebastian Grönke, Stuart Pickering-Brown, Andrew J. Nicoll, Frances E. Norona, Julian Pietrzyk, Thomas G. Moens, Ione O.C. Woollacott, Adrian M. Isaacs, Melissa Cabecinha, Elizabeth M. C. Fisher, Emma L. Clayton, Jacqueline Dols, Charlotte E. Ridler, Teresa Niccoli, Sarah Mizielinska

Publikováno v: Science. 345:1192-1194

Dipeptide repeat peptides on the attack Certain neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), are associated with expanded dipeptides translated from RNA transcripts of disease-associated genes (see the Perspective by Wes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::65038fd02fb5c543aac4a3d6b4ef83f8
https://doi.org/10.1126/science.1256800

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

Autor: John Collinge, Emma L. Clayton, Ida E. Holm, Adrian M. Isaacs, Jørgen E. Nielsen, Emmanuel A. Asante, Miranda Robbins, Sarah Marshall, Sarah Mizielinska, Troels Tolstrup Nielsen, Peter Johannsen, James R. Edgar, Frances E. Norona, Hana Damirji

Publikováno v: Clayton, E L, Mizielinska, S, Edgar, J R, Nielsen, T T, Marshall, S, Norona, F E, Robbins, M, Damirji, H, Holm, I E, Johannsen, P, Nielsen, J E, Asante, E A, Collinge, J & Isaacs, A M 2015, ' Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology ', Acta Neuropathologica, vol. 130, no. 4, pp. 511-523 . https://doi.org/10.1007/s00401-015-1475-3
Acta Neuropathologica
2015, ' Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology ', Acta Neuropathologica, vol. 130, no. 4, pp. 511-523 . https://doi.org/10.1007/s00401-015-1475-3

Mutations in the charged multivesicular body protein 2B (CHMP2B) cause frontotemporal dementia (FTD). We report that mice which express FTD-causative mutant CHMP2B at physiological levels develop a novel lysosomal storage pathology characterised by l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c2b2072f61921492abf0bb91bf222f
https://curis.ku.dk/ws/files/174350185/s00401_015_1475_3.pdf