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1.

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.

Brown, Anna-Leigh; Wilkins, Oscar G; Keuss, Matthew J; Hill, Sarah E; Zanovello, Matteo; Lee, Weaverly Colleen; Bampton, Alexander; Lee, Flora C Y; Masino, Laura; Qi, Yue A; Bryce-Smith, Sam; Gatt, Ariana; Hallegger, Martina; Fagegaltier, Delphine; Phatnani, Hemali; Newcombe, Jia; Gustavsson, Emil K; Seddighi, Sahba; Reyes, Joel F; Coon, Steven L; Ramos, Daniel; Schiavo, Giampietro; Fisher, Elizabeth M C; Raj, Towfique; Secrier, Maria; Lashley, Tammaryn; Ule, Jernej; Buratti, Emanuele; Humphrey, Jack; Ward, Michael E; Fratta, Pietro.

Nature ; 603(7899): 131-137, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-35197628

2.

Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes.

Redhead, Yushi; Gibbins, Dorota; Lana-Elola, Eva; Watson-Scales, Sheona; Dobson, Lisa; Krause, Matthias; Liu, Karen J; Fisher, Elizabeth M C; Green, Jeremy B A; Tybulewicz, Victor L J.

Development ; 150(8)2023 04 15.

Artículo en Inglés | MEDLINE | ID: mdl-37102702

3.

Mary Frances Lyon (19252014).

Fisher, Elizabeth M C; Peters, Jo.

Cell ; 160(4): 577-8, 2015 Feb 12.

Artículo en Inglés | MEDLINE | ID: mdl-25823359

4.

TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.

Godoy-Corchuelo, Juan M; Ali, Zeinab; Brito Armas, Jose M; Martins-Bach, Aurea B; García-Toledo, Irene; Fernández-Beltrán, Luis C; López-Carbonero, Juan I; Bascuñana, Pablo; Spring, Shoshana; Jimenez-Coca, Irene; Muñoz de Bustillo Alfaro, Ramón A; Sánchez-Barrena, Maria J; Nair, Remya R; Nieman, Brian J; Lerch, Jason P; Miller, Karla L; Ozdinler, Hande P; Fisher, Elizabeth M C; Cunningham, Thomas J; Acevedo-Arozena, Abraham; Corrochano, Silvia.

Neurobiol Dis ; 193: 106437, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38367882

5.

A landmark-free morphometrics pipeline for high-resolution phenotyping: application to a mouse model of Down syndrome.

Toussaint, Nicolas; Redhead, Yushi; Vidal-García, Marta; Lo Vercio, Lucas; Liu, Wei; Fisher, Elizabeth M C; Hallgrímsson, Benedikt; Tybulewicz, Victor L J; Schnabel, Julia A; Green, Jeremy B A.

Development ; 148(18)2021 03 12.

Artículo en Inglés | MEDLINE | ID: mdl-33712441

6.

Genetic Mapping of APP and Amyloid-ß Biology Modulation by Trisomy 21.

Mumford, Paige; Tosh, Justin; Anderle, Silvia; Gkanatsiou Wikberg, Eleni; Lau, Gloria; Noy, Sue; Cleverley, Karen; Saito, Takashi; Saido, Takaomi C; Yu, Eugene; Brinkmalm, Gunnar; Portelius, Erik; Blennow, Kaj; Zetterberg, Henrik; Tybulewicz, Victor; Fisher, Elizabeth M C; Wiseman, Frances K.

J Neurosci ; 42(33): 6453-6468, 2022 08 17.

Artículo en Inglés | MEDLINE | ID: mdl-35835549

7.

Investigating brain alterations in the Dp1Tyb mouse model of Down syndrome.

Serrano, Maria Elisa; Kim, Eugene; Siow, Bernard; Ma, Da; Rojo, Loreto; Simmons, Camilla; Hayward, Darryl; Gibbins, Dorota; Singh, Nisha; Strydom, Andre; Fisher, Elizabeth M C; Tybulewicz, Victor L J; Cash, Diana.

Neurobiol Dis ; 188: 106336, 2023 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-38317803

8.

Mouse models of aneuploidy to understand chromosome disorders.

Tosh, Justin; Tybulewicz, Victor; Fisher, Elizabeth M C.

Mamm Genome ; 33(1): 157-168, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-34719726

9.

Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs.

Nair, Remya R; Tibbit, Charlotte; Thompson, David; McLeod, Ross; Nakhuda, Asif; Simon, Michelle M; Baloh, Robert H; Fisher, Elizabeth M C; Isaacs, Adrian M; Cunningham, Thomas J.

Methods ; 191: 15-22, 2021 07.

Artículo en Inglés | MEDLINE | ID: mdl-32721467

10.

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.

Humphrey, Jack; Birsa, Nicol; Milioto, Carmelo; McLaughlin, Martha; Ule, Agnieszka M; Robaldo, David; Eberle, Andrea B; Kräuchi, Rahel; Bentham, Matthew; Brown, Anna-Leigh; Jarvis, Seth; Bodo, Cristian; Garone, Maria G; Devoy, Anny; Soraru, Gianni; Rosa, Alessandro; Bozzoni, Irene; Fisher, Elizabeth M C; Mühlemann, Oliver; Schiavo, Giampietro; Ruepp, Marc-David; Isaacs, Adrian M; Plagnol, Vincent; Fratta, Pietro.

Nucleic Acids Res ; 48(12): 6889-6905, 2020 07 09.

Artículo en Inglés | MEDLINE | ID: mdl-32479602

11.

A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits.

Cleverley, Karen; Lee, Weaverly Colleen; Mumford, Paige; Collins, Toby; Rickman, Matthew; Cunningham, Thomas J; Cleak, James; Mianne, Joffrey; Szoke-Kovacs, Zsombor; Stewart, Michelle; Teboul, Lydia; Maduro, Cheryl; Wells, Sara; Wiseman, Frances K; Fisher, Elizabeth M C.

Mamm Genome ; 32(2): 94-103, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33713180

12.

Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration.

Watson-Scales, Sheona; Kalmar, Bernadett; Lana-Elola, Eva; Gibbins, Dorota; La Russa, Federica; Wiseman, Frances; Williamson, Matthew; Saccon, Rachele; Slender, Amy; Olerinyova, Anna; Mahmood, Radma; Nye, Emma; Cater, Heather; Wells, Sara; Yu, Y Eugene; Bennett, David L H; Greensmith, Linda; Fisher, Elizabeth M C; Tybulewicz, Victor L J.

PLoS Genet ; 14(5): e1007383, 2018 05.

Artículo en Inglés | MEDLINE | ID: mdl-29746474

13.

Substantially thinner internal granular layer and reduced molecular layer surface in the cerebellar cortex of the Tc1 mouse model of down syndrome - a comprehensive morphometric analysis with active staining contrast-enhanced MRI.

Ma, Da; Cardoso, Manuel J; Zuluaga, Maria A; Modat, Marc; Powell, Nick M; Wiseman, Frances K; Cleary, Jon O; Sinclair, Benjamin; Harrison, Ian F; Siow, Bernard; Popuri, Karteek; Lee, Sieun; Matsubara, Joanne A; Sarunic, Marinko V; Beg, Mirza Faisal; Tybulewicz, Victor L J; Fisher, Elizabeth M C; Lythgoe, Mark F; Ourselin, Sebastien.

Neuroimage ; 223: 117271, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-32835824

14.

DYNLRB1 is essential for dynein mediated transport and neuronal survival.

Terenzio, Marco; Di Pizio, Agostina; Rishal, Ida; Marvaldi, Letizia; Di Matteo, Pierluigi; Kawaguchi, Riki; Coppola, Giovanni; Schiavo, Giampietro; Fisher, Elizabeth M C; Fainzilber, Mike.

Neurobiol Dis ; 140: 104816, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32088381

15.

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

Wiseman, Frances K; Al-Janabi, Tamara; Hardy, John; Karmiloff-Smith, Annette; Nizetic, Dean; Tybulewicz, Victor L J; Fisher, Elizabeth M C; Strydom, André.

Nat Rev Neurosci ; 16(9): 564-74, 2015 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-26243569

16.

Uses for humanised mouse models in precision medicine for neurodegenerative disease.

Nair, Remya R; Corrochano, Silvia; Gasco, Samanta; Tibbit, Charlotte; Thompson, David; Maduro, Cheryl; Ali, Zeinab; Fratta, Pietro; Arozena, Abraham Acevedo; Cunningham, Thomas J; Fisher, Elizabeth M C.

Mamm Genome ; 30(7-8): 173-191, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31203387

17.

Trisomy of human chromosome 21 enhances amyloid-ß deposition independently of an extra copy of APP.

Wiseman, Frances K; Pulford, Laura J; Barkus, Chris; Liao, Fan; Portelius, Erik; Webb, Robin; Chávez-Gutiérrez, Lucia; Cleverley, Karen; Noy, Sue; Sheppard, Olivia; Collins, Toby; Powell, Caroline; Sarell, Claire J; Rickman, Matthew; Choong, Xun; Tosh, Justin L; Siganporia, Carlos; Whittaker, Heather T; Stewart, Floy; Szaruga, Maria; Murphy, Michael P; Blennow, Kaj; de Strooper, Bart; Zetterberg, Henrik; Bannerman, David; Holtzman, David M; Tybulewicz, Victor L J; Fisher, Elizabeth M C.

Brain ; 141(8): 2457-2474, 2018 08 01.

Artículo en Inglés | MEDLINE | ID: mdl-29945247

18.

A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to ß-Cell Mitochondrial Dysfunction in Type 2 Diabetes.

Peiris, Heshan; Duffield, Michael D; Fadista, Joao; Jessup, Claire F; Kashmir, Vinder; Genders, Amanda J; McGee, Sean L; Martin, Alyce M; Saiedi, Madiha; Morton, Nicholas; Carter, Roderick; Cousin, Michael A; Kokotos, Alexandros C; Oskolkov, Nikolay; Volkov, Petr; Hough, Tertius A; Fisher, Elizabeth M C; Tybulewicz, Victor L J; Busciglio, Jorge; Coskun, Pinar E; Becker, Ann; Belichenko, Pavel V; Mobley, William C; Ryan, Michael T; Chan, Jeng Yie; Laybutt, D Ross; Coates, P Toby; Yang, Sijun; Ling, Charlotte; Groop, Leif; Pritchard, Melanie A; Keating, Damien J.

PLoS Genet ; 12(5): e1006033, 2016 05.

Artículo en Inglés | MEDLINE | ID: mdl-27195491

19.

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.

Joyce, Peter I; Fratta, Pietro; Landman, Allison S; Mcgoldrick, Philip; Wackerhage, Henning; Groves, Michael; Busam, Bharani Shiva; Galino, Jorge; Corrochano, Silvia; Beskina, Olga A; Esapa, Christopher; Ryder, Edward; Carter, Sarah; Stewart, Michelle; Codner, Gemma; Hilton, Helen; Teboul, Lydia; Tucker, Jennifer; Lionikas, Arimantas; Estabel, Jeanne; Ramirez-Solis, Ramiro; White, Jacqueline K; Brandner, Sebastian; Plagnol, Vincent; Bennet, David L H; Abramov, Andrey Y; Greensmith, Linda; Fisher, Elizabeth M C; Acevedo-Arozena, Abraham.

Hum Mol Genet ; 25(2): 291-307, 2016 Jan 15.

Artículo en Inglés | MEDLINE | ID: mdl-26604141

20.

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.

Devoy, Anny; Kalmar, Bernadett; Stewart, Michelle; Park, Heesoon; Burke, Beverley; Noy, Suzanna J; Redhead, Yushi; Humphrey, Jack; Lo, Kitty; Jaeger, Julian; Mejia Maza, Alan; Sivakumar, Prasanth; Bertolin, Cinzia; Soraru, Gianni; Plagnol, Vincent; Greensmith, Linda; Acevedo Arozena, Abraham; Isaacs, Adrian M; Davies, Benjamin; Fratta, Pietro; Fisher, Elizabeth M C.

Brain ; 140(11): 2797-2805, 2017 Nov 01.

Artículo en Inglés | MEDLINE | ID: mdl-29053787

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