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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: markmann s. 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.
Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.
Kollmann K, Damme M, Markmann S, Morelle W, Schweizer M, Hermans-Borgmeyer I, Röchert AK, Pohl S, Lübke T, Michalski JC, Käkelä R, Walkley SU, Braulke T. Kollmann K, et al. Among authors: markmann s. Brain. 2012 Sep;135(Pt 9):2661-75. doi: 10.1093/brain/aws209. Brain. 2012. PMID: 22961545 Free PMC article.
Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.
Blanz J, Zunke F, Markmann S, Damme M, Braulke T, Saftig P, Schwake M. Blanz J, et al. Among authors: markmann s. Traffic. 2015 Oct;16(10):1127-36. doi: 10.1111/tra.12313. Epub 2015 Sep 1. Traffic. 2015. PMID: 26219725 Free article.
Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I.
Kuehn SC, Koehne T, Cornils K, Markmann S, Riedel C, Pestka JM, Schweizer M, Baldauf C, Yorgan TA, Krause M, Keller J, Neven M, Breyer S, Stuecker R, Muschol N, Busse B, Braulke T, Fehse B, Amling M, Schinke T. Kuehn SC, et al. Among authors: markmann s. Hum Mol Genet. 2015 Dec 15;24(24):7075-86. doi: 10.1093/hmg/ddv407. Epub 2015 Oct 1. Hum Mol Genet. 2015. PMID: 26427607
34 results