Search Results - "Fisher, Elizabeth"

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome by Wiseman, Frances K., Al-Janabi, Tamara, Hardy, John, Karmiloff-Smith, Annette, Nizetic, Dean, Tybulewicz, Victor L. J., Fisher, Elizabeth M. C., Strydom, André

“…Individuals with Down syndrome have an enhanced risk of developing early onset Alzheimer disease. Here, the authors describe the features of Alzheimer disease…”
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Is SOD1 loss of function involved in amyotrophic lateral sclerosis? by SACCON, Rachele A, BUNTON-STASYSHYN, Rosie K. A, FISHER, Elizabeth M. C, FRATTA, Pietro

“…Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the neurodegenerative disease amyotrophic lateral sclerosis. When the…”
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Humanising the mouse genome piece by piece by Zhu, Fei, Nair, Remya R., Fisher, Elizabeth M. C., Cunningham, Thomas J.

“…To better understand human health and disease, researchers create a wide variety of mouse models that carry human DNA. With recent advances in genome…”
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Cytoplasmic dynein heavy chain: the servant of many masters by Schiavo, Giampietro, Greensmith, Linda, Hafezparast, Majid, Fisher, Elizabeth M.C

“…Highlights • The cytoplasmic dynein complex is the main retrograde motor in all eukaryotic cells. • This complex is built around a dimer of cytoplasmic dynein…”
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Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease by Filimonenko, Maria, Stuffers, Susanne, Raiborg, Camilla, Yamamoto, Ai, Malerød, Lene, Fisher, Elizabeth M.C, Isaacs, Adrian, Brech, Andreas, Stenmark, Harald, Simonsen, Anne

“…The endosomal sorting complexes required for transport (ESCRTs) are required to sort integral membrane proteins into intralumenal vesicles of the…”
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Correlation of clinical and molecular features in spinal bulbar muscular atrophy by Fratta, Pietro, Nirmalananthan, Niranjanan, Masset, Luc, Skorupinska, Iwona, Collins, Toby, Cortese, Andrea, Pemble, Sally, Malaspina, Andrea, Fisher, Elizabeth M.C, Greensmith, Linda, Hanna, Michael G

“…OBJECTIVES:To characterize the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the…”
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Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years by Hithersay, Rosalyn, Startin, Carla M, Hamburg, Sarah, Mok, Kin Y, Hardy, John, Fisher, Elizabeth M C, Tybulewicz, Victor L J, Nizetic, Dean, Strydom, André

“…This work quantifies the fatal burden of dementia associated with Alzheimer disease in individuals with Down syndrome (DS). To explore the association of…”
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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins by Mizielinska, Sarah, Grönke, Sebastian, Niccoli, Teresa, Ridler, Charlotte E., Clayton, Emma L., Devoy, Anny, Moens, Thomas, Norona, Frances E., Woollacott, Ione O. C., Pietrzyk, Julian, Cleverley, Karen, Nicoll, Andrew J., Pickering-Brown, Stuart, Dols, Jacqueline, Cabecinha, Melissa, Hendrich, Oliver, Fratta, Pietro, Fisher, Elizabeth M. C., Partridge, Linda, Isaacs, Adrian M.

“…An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is…”
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Mouse models of aneuploidy to understand chromosome disorders by Tosh, Justin, Tybulewicz, Victor, Fisher, Elizabeth M. C.

“…An organism or cell carrying a number of chromosomes that is not a multiple of the haploid count is in a state of aneuploidy. This condition results in…”
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Species-specific pace of development is associated with differences in protein stability by Rayon, Teresa, Stamataki, Despina, Perez-Carrasco, Ruben, Garcia-Perez, Lorena, Barrington, Christopher, Melchionda, Manuela, Exelby, Katherine, Lazaro, Jorge, Tybulewicz, Victor L J, Fisher, Elizabeth M C, Briscoe, James

“…Although many molecular mechanisms controlling developmental processes are evolutionarily conserved, the speed at which the embryo develops can vary…”
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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia by Fratta, Pietro, Poulter, Mark, Lashley, Tammaryn, Rohrer, Jonathan D., Polke, James M., Beck, Jon, Ryan, Natalie, Hensman, Davina, Mizielinska, Sarah, Waite, Adrian J., Lai, Mang-Ching, Gendron, Tania F., Petrucelli, Leonard, Fisher, Elizabeth M. C., Revesz, Tamas, Warren, Jason D., Collinge, John, Isaacs, Adrian M., Mead, Simon

“…An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis…”
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Executive environmental law by Fisher, Elizabeth

“…The Draft Environment (Principles and Governance) Bill published by DEFRA in late 2018 is part of a process of reimagining environmental law in light of…”
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Mouse models of neurodegeneration: Know your question, know your mouse by Fisher, Elizabeth M C, Bannerman, David M

“…Many mutant mouse strains have been developed as models to investigate neurodegenerative disease in humans. However, variability in results among studies using…”
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Beauty and Revolution: Gustav Metzger’s Dialectical Aesthetics by Fisher, Elizabeth

“…This article explores the political artist Gustav Metzger's engagement with aesthetics and dialectical form. It locates aesthetics at the centre of his ethical…”
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Down syndrome—recent progress and future prospects by Wiseman, Frances K., Alford, Kate A., Tybulewicz, Victor L.J., Fisher, Elizabeth M.C.

“…Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability,…”
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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans by van de Leemput, Joyce, Chandran, Jayanth, Knight, Melanie A, Holtzclaw, Lynne A, Scholz, Sonja, Cookson, Mark R, Houlden, Henry, Gwinn-Hardy, Katrina, Fung, Hon-Chung, Lin, Xian, Hernandez, Dena, Simon-Sanchez, Javier, Wood, Nick W, Giunti, Paola, Rafferty, Ian, Hardy, John, Storey, Elsdon, Gardner, R J McKinlay, Forrest, Susan M, Fisher, Elizabeth M C, Russell, James T, Cai, Huaibin, Singleton, Andrew B

“…We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion…”
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Techno-economic assessment of biomass slow pyrolysis into different biochar and methanol concepts by Shabangu, Shaka, Woolf, Dominic, Fisher, Elizabeth M., Angenent, Largus T., Lehmann, Johannes

“…•We model 3 biomass to biochar and methanol concepts to compare their profitability.•Pyrolysis is more sensitive to biomass costs and the selling price of…”
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Endosomal structure and APP biology are not altered in a preclinical mouse cellular model of Down syndrome by Cannavo, Claudia, Cleverley, Karen, Maduro, Cheryl, Mumford, Paige, Moulding, Dale, Fisher, Elizabeth M C, Wiseman, Frances K

“…Individuals who have Down syndrome (trisomy 21) are at greatly increased risk of developing Alzheimer's disease, characterised by the accumulation in the brain…”
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Species-Specific Transcription in Mice Carrying Human Chromosome 21 by Wilson, Michael D, Barbosa-Morais, Nuno L, Schmidt, Dominic, Conboy, Caitlin M, Vanes, Lesley, Tybulewicz, Victor L.J, Fisher, Elizabeth M.C, Tavaré, Simon, Odom, Duncan T

“…Homologous sets of transcription factors direct conserved tissue-specific gene expression, yet transcription factor-binding events diverge rapidly between…”
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Rodent models in Down syndrome research: impact and future opportunities by Herault, Yann, Delabar, Jean M, Fisher, Elizabeth M C, Tybulewicz, Victor L J, Yu, Eugene, Brault, Veronique

“…Down syndrome is caused by trisomy of chromosome 21. To date, a multiplicity of mouse models with Down-syndrome-related features has been developed to…”
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