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

A p.Y374X truncation in TARDBP was recently shown to reduce expression of TDP43 in fibroblasts isolated from ALS cases. In this follow up study focused on assessing the downstream phenotypic consequences of loss of TDP43 in the context of the truncation, we have shown a striking effect on the fibrob...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Aging Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10213779/
https://www.ncbi.nlm.nih.gov/pubmed/37251807
http://dx.doi.org/10.3389/fnagi.2023.1151848

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