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GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Ludwig NF, Velho RV, Sperb-Ludwig F, Acosta AX, Ribeiro EM, Kim CA, Gandelman Horovitz DD, Boy R, Rodovalho-Doriqui MJ, Lourenço CM, Santos ES, Braulke T, Pohl S, Schwartz IVD. Ludwig NF, et al. Among authors: pohl s. Int J Biochem Cell Biol. 2017 Nov;92:90-94. doi: 10.1016/j.biocel.2017.09.006. Epub 2017 Sep 14. Int J Biochem Cell Biol. 2017. PMID: 28918368
Mannose phosphorylation in health and disease.
Kollmann K, Pohl S, Marschner K, Encarnação M, Sakwa I, Tiede S, Poorthuis BJ, Lübke T, Müller-Loennies S, Storch S, Braulke T. Kollmann K, et al. Among authors: pohl s. Eur J Cell Biol. 2010 Jan;89(1):117-23. doi: 10.1016/j.ejcb.2009.10.008. Epub 2009 Nov 28. Eur J Cell Biol. 2010. PMID: 19945768 Review.
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T. Persichetti E, et al. Among authors: pohl s. Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959. Hum Mutat. 2009. PMID: 19370764
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.
Pohl S, Angermann A, Jeschke A, Hendrickx G, Yorgan TA, Makrypidi-Fraune G, Steigert A, Kuehn SC, Rolvien T, Schweizer M, Koehne T, Neven M, Winter O, Velho RV, Albers J, Streichert T, Pestka JM, Baldauf C, Breyer S, Stuecker R, Muschol N, Cox TM, Saftig P, Paganini C, Rossi A, Amling M, Braulke T, Schinke T. Pohl S, et al. J Bone Miner Res. 2018 Dec;33(12):2186-2201. doi: 10.1002/jbmr.3563. Epub 2018 Aug 24. J Bone Miner Res. 2018. PMID: 30075049
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: pohl s. 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.
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