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TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A, Krogsaeter EK, Jaślan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C. Scotto Rosato A, et al. Among authors: hermey g. EMBO Mol Med. 2022 Sep 7;14(9):e15377. doi: 10.15252/emmm.202115377. Epub 2022 Aug 5. EMBO Mol Med. 2022. PMID: 35929194 Free PMC article.
Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.
Klein M, Kaleem A, Oetjen S, Wünkhaus D, Binkle L, Schilling S, Gjorgjieva M, Scholz R, Gruber-Schoffnegger D, Storch S, Kins S, Drewes G, Hoffmeister-Ullerich S, Kuhl D, Hermey G. Klein M, et al. Among authors: hermey g. Autophagy. 2022 Sep;18(9):2068-2085. doi: 10.1080/15548627.2021.2016232. Epub 2021 Dec 29. Autophagy. 2022. PMID: 34964690 Free PMC article.
Neuronal activity regulates alternative exon usage.
Denkena J, Zaisser A, Merz B, Klinger B, Kuhl D, Blüthgen N, Hermey G. Denkena J, et al. Among authors: hermey g. Mol Brain. 2020 Nov 10;13(1):148. doi: 10.1186/s13041-020-00685-3. Mol Brain. 2020. PMID: 33172478 Free PMC article.
39 results