Researchers investigated the influence of genotypes at TMEM106B, a locus associated with risk for frontotemporal lobar degeneration with TAR DNA-binding protein-43 inclusions (FTLD-TDP), and hexanucleotide repeat expansions in C9orf72, a known genetic cause for both amyotrophic lateral sclerosis and FTLD-TDP, on global TDP-43 pathology and regional distribution of TDP-43 pathology in 899 postmortem cases from a spectrum of neurodegenerative diseases.
[Acta Neuropathologica]
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Mao, F., Robinson, J. L., Unger, T., Posavi, M., Amado, D. A., Elman, L., Grossman, M., Wolk, D. A., Lee, E. B., Van Deerlin, V. M., Porta, S., Lee, V. M. Y., Trojanowski, J. Q., & Chen-Plotkin, A. S. (2021). TMEM106B modifies TDP-43 pathology in human ALS brain and cell-based models of TDP-43 proteinopathy. Acta Neuropathologica. https://doi.org/10.1007/s00401-021-02330-2 Cite
