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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.
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: schweizer m. 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
784 results