Výsledky vyhledávání - "Ruxandra, Dafinca"

Akademický článek

Mutant GGGGCC RNA prevents YY1 from binding to Fuzzy promoter which stimulates Wnt/β-catenin pathway in C9ALS/FTD

Autor: Zhefan Stephen Chen, Mingxi Ou, Stephanie Taylor, Ruxandra Dafinca, Shaohong Isaac Peng, Kevin Talbot, Ho Yin Edwin Chan

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)

Abstract The GGGGCC hexanucleotide repeat expansion mutation in the chromosome 9 open reading frame 72 (C9orf72) gene is a major genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). In this study, we demonstrate tha

Externí odkaz: https://doaj.org/article/b3e750fa439f44bc949df9182694974b

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Akademický článek

C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9

Autor: Björn F. Vahsen, Sumedha Nalluru, Georgia R. Morgan, Lucy Farrimond, Emily Carroll, Yinyan Xu, Kaitlyn M. L. Cramb, Benazir Amein, Jakub Scaber, Antigoni Katsikoudi, Ana Candalija, Mireia Carcolé, Ruxandra Dafinca, Adrian M. Isaacs, Richard Wade-Martins, Elizabeth Gray, Martin R. Turner, Sally A. Cowley, Kevin Talbot

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)

Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron loss, with additional pathophysiological involvement of non-neuronal cells such as microglia. The commonest ALS-associated genetic v

Externí odkaz: https://doaj.org/article/3d51552885d24a2f94bd75e36ffa3438

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Akademický článek

Human iPSC co-culture model to investigate the interaction between microglia and motor neurons

Autor: Björn F. Vahsen, Elizabeth Gray, Ana Candalija, Kaitlyn M. L. Cramb, Jakub Scaber, Ruxandra Dafinca, Antigoni Katsikoudi, Yinyan Xu, Lucy Farrimond, Richard Wade-Martins, William S. James, Martin R. Turner, Sally A. Cowley, Kevin Talbot

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)

Abstract Motor neuron diseases such as amyotrophic lateral sclerosis are primarily characterized by motor neuron degeneration with additional involvement of non-neuronal cells, in particular, microglia. In previous work, we have established protocols

Externí odkaz: https://doaj.org/article/db218578cfca489c825f444402cee380

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Akademický článek

Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins

Autor: Topaz Altman, Ariel Ionescu, Amjad Ibraheem, Dominik Priesmann, Tal Gradus-Pery, Luba Farberov, Gayster Alexandra, Natalia Shelestovich, Ruxandra Dafinca, Noam Shomron, Florence Rage, Kevin Talbot, Michael E. Ward, Amir Dori, Marcus Krüger, Eran Perlson

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)

Here, the authors show in human iPSC-derived motor neurons from ALS patients and a TDP-43 mouse model that axonal TDP-43 forms G3BP1 positive RNP condensates, which sequester mRNA of nuclear encoded mitochondrial proteins and decrease local protein s

Externí odkaz: https://doaj.org/article/9c6dfe446ae343e18acd042aa8d017a6

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Akademický článek

Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction

Autor: David Gordon, Ruxandra Dafinca, Jakub Scaber, Javier Alegre-Abarrategui, Lucy Farrimond, Connor Scott, Daniel Biggs, Louisa Kent, Peter L. Oliver, Benjamin Davies, Olaf Ansorge, Richard Wade-Martins, Kevin Talbot

Publikováno v: Neurobiology of Disease, Vol 121, Iss , Pp 148-162 (2019)

Mutations in the gene encoding the RNA-binding protein TDP-43 cause amyotrophic lateral sclerosis (ALS), clinically and pathologically indistinguishable from the majority of ‘sporadic’ cases of ALS, establishing altered TDP-43 function and distri

Externí odkaz: https://doaj.org/article/192a3fbab9434e70aeee4440b8061102

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Akademický článek

The Role of Mitochondrial Dysfunction and ER Stress in TDP-43 and C9ORF72 ALS

Autor: Ruxandra Dafinca, Paola Barbagallo, Kevin Talbot

Publikováno v: Frontiers in Cellular Neuroscience, Vol 15 (2021)

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the motor system with complex determinants, including genetic and non-genetic factors. Despite this heterogeneity, a key pathological signature is the mislocalization and aggregati

Externí odkaz: https://doaj.org/article/b6e242ecc4184d94acf65140aa97fe27

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Akademický článek

An ALS-linked mutation in TDP-43 disrupts normal protein interactions in the motor neuron response to oxidative stress

Autor: Emily Feneberg, David Gordon, Alexander G. Thompson, Mattéa J. Finelli, Ruxandra Dafinca, Ana Candalija, Philip D. Charles, Imre Mäger, Matthew J. Wood, Roman Fischer, Benedikt M. Kessler, Elizabeth Gray, Martin R. Turner, Kevin Talbot

Publikováno v: Neurobiology of Disease, Vol 144, Iss , Pp 105050- (2020)

TDP-43 pathology is a key feature of amyotrophic lateral sclerosis (ALS), but the mechanisms linking TDP-43 to altered cellular function and neurodegeneration remain unclear. We have recently described a mouse model in which human wild-type or mutant

Externí odkaz: https://doaj.org/article/d8e57a13e21d47cfb4d7b1b8b23465d9

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