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Loss of the lysosomal protein CLN3 modifies the lipid content of the nuclear envelope leading to DNA damage and activation of YAP1 pro-apoptotic signaling.
Domingues N, Calcagni' A, Pires J, Freire SR, Herz NJ, Huynh T, Wieciorek K, Moreno MJ, Outeiro TF, Girão H, Milosevic I, Ballabio A, Raimundo N. Domingues N, et al. Among authors: calcagni a. bioRxiv [Preprint]. 2024 Jun 2:2024.05.31.596474. doi: 10.1101/2024.05.31.596474. bioRxiv. 2024. PMID: 38853929 Free PMC article. Preprint.
Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
Calcagni' A, Staiano L, Zampelli N, Minopoli N, Herz NJ, Di Tullio G, Huynh T, Monfregola J, Esposito A, Cirillo C, Bajic A, Zahabiyon M, Curnock R, Polishchuk E, Parkitny L, Medina DL, Pastore N, Cullen PJ, Parenti G, De Matteis MA, Grumati P, Ballabio A. Calcagni' A, et al. Nat Commun. 2023 Jul 3;14(1):3911. doi: 10.1038/s41467-023-39643-7. Nat Commun. 2023. PMID: 37400440 Free PMC article.
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