Mutant variants of the TDP-43 protein are causative for amyotrophic lateral sclerosis.
Is it true that Mutant variants of the TDP-43 protein are causative for amyotrophic lateral sclerosis?
Yes. Mutant variants of the TDP-43 protein are recognized as causative factors in amyotrophic lateral sclerosis, contributing to disease pathogenesis through both toxic gain-of-function and loss-of-function mechanisms.
Verdict: SUPPORTED · 2 sources for, 0 against · Last checked
The retrieved literature consistently supports the claim that TARDBP/TDP-43 mutations are causative for familial and related forms of amyotrophic lateral sclerosis, driving both aggregation pathology and neurodegeneration.
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S, Y., Y, I., & M, K. (2026). Human iPSC-derived motor neurons as a platform for elucidating TDP-43-related amyotrophic lateral sclerosis pathogenesis: a mini review.. doi.org. https://doi.org/10.3389/fnmol.2026.1864964
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CS, Y., Y, M., JL, X., XY, L., YT, L., TX, W., HF, X., SM, Z., ZY, W., & HF, L. (2026). Pathogenicity Classification of <i>TARDBP</i> Variants of Uncertain Significance: An Integrative Clinical Characterization and Functional Validation.. doi.org. https://doi.org/10.3390/cells15141232
What does the evidence say?
The retrieved literature consistently supports the claim that TARDBP/TDP-43 mutations are causative for familial and related forms of amyotrophic lateral sclerosis, driving both aggregation pathology and neurodegeneration.
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