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HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases.
Calliari A, Daughrity LM, Albagli EA, Castellanos Otero P, Yue M, Jansen-West K, Islam NN, Caulfield T, Rawlinson B, DeTure M, Cook C, Graff-Radford NR, Day GS, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Oskarsson B, Gitler AD, Dickson DW, Gendron TF, Prudencio M, Ward ME, Zhang YJ, Petrucelli L. Calliari A, et al. Mol Neurodegener. 2024 Mar 27;19(1):29. doi: 10.1186/s13024-024-00718-8. Mol Neurodegener. 2024. PMID: 38539264 Free PMC article.
Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.
Davis SE, Cook AK, Hall JA, Voskobiynyk Y, Carullo NV, Boyle NR, Hakim AR, Anderson KM, Hobdy KP, Pugh DA, Murchison CF, McMeekin LJ, Simmons M, Margolies KA, Cowell RM, Nana AL, Spina S, Grinberg LT, Miller BL, Seeley WW, Arrant AE. Davis SE, et al. Acta Neuropathol Commun. 2023 Apr 28;11(1):70. doi: 10.1186/s40478-023-01571-4. Acta Neuropathol Commun. 2023. PMID: 37118844 Free PMC article.