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The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.
Richards CM, Jabs S, Qiao W, Varanese LD, Schweizer M, Mosen PR, Riley NM, Klüssendorf M, Zengel JR, Flynn RA, Rustagi A, Widen JC, Peters CE, Ooi YS, Xie X, Shi PY, Bartenschlager R, Puschnik AS, Bogyo M, Bertozzi CR, Blish CA, Winter D, Nagamine CM, Braulke T, Carette JE. Richards CM, et al. Among authors: schweizer m. Science. 2022 Oct 7;378(6615):eabn5648. doi: 10.1126/science.abn5648. Epub 2022 Oct 7. Science. 2022. PMID: 36074821 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: schweizer m. Brain. 2012 Sep;135(Pt 9):2661-75. doi: 10.1093/brain/aws209. Brain. 2012. PMID: 22961545 Free PMC article.
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.
Kollmann K, Pestka JM, Kühn SC, Schöne E, Schweizer M, Karkmann K, Otomo T, Catala-Lehnen P, Failla AV, Marshall RP, Krause M, Santer R, Amling M, Braulke T, Schinke T. Kollmann K, et al. Among authors: schweizer m. EMBO Mol Med. 2013 Dec;5(12):1871-86. doi: 10.1002/emmm.201302979. Epub 2013 Oct 15. EMBO Mol Med. 2013. PMID: 24127423 Free PMC article.
Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions.
Otomo T, Schweizer M, Kollmann K, Schumacher V, Muschol N, Tolosa E, Mittrücker HW, Braulke T. Otomo T, et al. Among authors: schweizer m. J Cell Biol. 2015 Jan 19;208(2):171-80. doi: 10.1083/jcb.201407077. J Cell Biol. 2015. PMID: 25601403 Free PMC article.
783 results