Proteinopathies as Hallmarks of Impaired Gene Expression, Proteostasis and Mitochondrial Function in Amyotrophic Lateral Sclerosis

por Benson, Bridget C., Shaw, Pamela J., Azzouz, Mimoun, Highley, J. Robin, Hautbergue, Guillaume M.
Publicado 2021

ALS-linked FUS mutations confer loss and gain of function in the nucleus by promoting excessive formation of dysfunctional paraspeckles

por An, Haiyan, Skelt, Lucy, Notaro, Antonietta, Highley, J. Robin, Fox, Archa H., La Bella, Vincenzo, Buchman, Vladimir L., Shelkovnikova, Tatyana A.
Publicado 2019

Quantitative histomorphometry of capillary microstructure in deep white matter

por Mozumder, Meghdoot, Pozo, Jose M., Coelho, Santiago, Costantini, Marina, Simpson, Julie, Highley, J. Robin, Ince, Paul G., Frangi, Alejandro F.
Publicado 2019

Histological data of axons, astrocytes, and myelin in deep subcortical white matter populations

por Coelho, Santiago, Pozo, Jose M., Costantini, Marina, Highley, J. Robin, Mozumder, Meghdoot, Simpson, Julie E., Ince, Paul G., Frangi, Alejandro F.
Publicado 2019

Iba-1(-)/CD68(+) microglia are a prominent feature of age-associated deep subcortical white matter lesions

por Waller, Rachel, Baxter, Lynne, Fillingham, Daniel J., Coelho, Santiago, Pozo, Jose M., Mozumder, Meghdoot, Frangi, Alejandro F., Ince, Paul G., Simpson, Julie E., Highley, J. Robin
Publicado 2019

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

por Cooper-Knock, Johnathan, Bury, Joanna J., Heath, Paul R, Wyles, Matthew, Higginbottom, Adrian, Gelsthorpe, Catherine, Highley, J. Robin, Hautbergue, Guillaume, Rattray, Magnus, Kirby, Janine, Shaw, Pamela J.
Publicado 2015

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy

por Cooper-Knock, Johnathan, Higginbottom, Adrian, Stopford, Matthew J., Highley, J. Robin, Ince, Paul G., Wharton, Stephen B., Pickering-Brown, Stuart, Kirby, Janine, Hautbergue, Guillaume M., Shaw, Pamela J.
Publicado 2015

An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD

por Bauer, Claudia S., Cohen, Rebecca N., Sironi, Francesca, Livesey, Matthew R., Gillingwater, Thomas H., Highley, J. Robin, Fillingham, Daniel J., Coldicott, Ian, Smith, Emma F., Gibson, Yolanda B., Webster, Christopher P., Grierson, Andrew J., Bendotti, Caterina, De Vos, Kurt J.
Publicado 2022

A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis

por Cooper-Knock, Johnathan, Green, Claire, Altschuler, Gabriel, Wei, Wenbin, Bury, Joanna J., Heath, Paul R., Wyles, Matthew, Gelsthorpe, Catherine, Highley, J. Robin, Lorente-Pons, Alejandro, Beck, Tim, Doyle, Kathryn, Otero, Karel, Traynor, Bryan, Kirby, Janine, Shaw, Pamela J., Hide, Winston
Publicado 2017

A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations

por Allen, Scott P., Al Sultan, Afnan, Kabucho Kibirige, Elaine, Tonkiss, Erin, Hamer, Keaton J., Castelli, Lydia M., Lin, Ya-Hui, Roscoe, Sarah, Stefanidis, Nikolaos, Mead, Richard J., Highley, J. Robin, Cooper-Knock, Johnathan, Hautbergue, Guillaume M., Heath, Paul R., Kirby, Janine, Shaw, Pamela J.
Publicado 2023

Atypical TDP‐43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP

por Cooper‐Knock, Johnathan, Julian, Thomas H., Feneberg, Emily, Highley, J. Robin, Sidra, Maurice, Turner, Martin R., Talbot, Kevin, Ansorge, Olaf, Allen, Scott P., Moll, Tobias, Shelkovnikova, Tatyana, Castelli, Lydia, Hautbergue, Guillaume M., Hewitt, Christopher, Kirby, Janine, Wharton, Stephen B., Mead, Richard J., Shaw, Pamela J.
Publicado 2022

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy

por Boyd, Penelope J., Tu, Wen-Yo, Shorrock, Hannah K., Groen, Ewout J. N., Carter, Roderick N., Powis, Rachael A., Thomson, Sophie R., Thomson, Derek, Graham, Laura C., Motyl, Anna A. L., Wishart, Thomas M., Highley, J. Robin, Morton, Nicholas M., Becker, Thomas, Becker, Catherina G., Heath, Paul R., Gillingwater, Thomas H.
Publicado 2017

Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-in...

por Keatinge, Marcus, Bui, Hai, Menke, Aswin, Chen, Yu-Chia, Sokol, Anna M., Bai, Qing, Ellett, Felix, Da Costa, Marc, Burke, Derek, Gegg, Matthew, Trollope, Lisa, Payne, Thomas, McTighe, Aimee, Mortiboys, Heather, de Jager, Sarah, Nuthall, Hugh, Kuo, Ming-Shang, Fleming, Angeleen, Schapira, Anthony H.V., Renshaw, Stephen A., Highley, J. Robin, Chacinska, Agnieszka, Panula, Pertti, Burton, Edward A., O'Neill, Michael J., Bandmann, Oliver
Publicado 2015