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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: winter d. Science. 2022 Oct 7;378(6615):eabn5648. doi: 10.1126/science.abn5648. Epub 2022 Oct 7. Science. 2022. PMID: 36074821 Free PMC article.
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.
Di Lorenzo G, Velho RV, Winter D, Thelen M, Ahmadi S, Schweizer M, De Pace R, Cornils K, Yorgan TA, Grüb S, Hermans-Borgmeyer I, Schinke T, Müller-Loennies S, Braulke T, Pohl S. Di Lorenzo G, et al. Among authors: winter d. Mol Cell Proteomics. 2018 Aug;17(8):1612-1626. doi: 10.1074/mcp.RA118.000720. Epub 2018 May 17. Mol Cell Proteomics. 2018. PMID: 29773673 Free PMC article.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S. Di Lorenzo G, et al. Among authors: winter d. Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341521 Free PMC article.
A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five.
Khundadze M, Ribaudo F, Hussain A, Rosentreter J, Nietzsche S, Thelen M, Winter D, Hoffmann B, Afzal MA, Hermann T, de Heus C, Piskor EM, Kosan C, Franzka P, von Kleist L, Stauber T, Klumperman J, Damme M, Proikas-Cezanne T, Hübner CA. Khundadze M, et al. Among authors: winter d. Neurobiol Dis. 2019 Jul;127:419-431. doi: 10.1016/j.nbd.2019.03.026. Epub 2019 Mar 28. Neurobiol Dis. 2019. PMID: 30930081
A proteomic view on lysosomes.
Muthukottiappan P, Winter D. Muthukottiappan P, et al. Among authors: winter d. Mol Omics. 2021 Dec 6;17(6):842-859. doi: 10.1039/d1mo00205h. Mol Omics. 2021. PMID: 34477805 Review.
1,318 results