| Year |
Citation |
Score |
| 2022 |
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, ... ... Braulke T, et al. The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection. Science (New York, N.Y.). eabn5648. PMID 36074821 DOI: 10.1126/science.abn5648 |
0.335 |
|
| 2018 |
Di Lorenzo G, Voltolini Velho R, 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. Lysosomal proteome and secretome analysis identifies missorted enzymes and their non-degraded substrates in mucolipidosis III mouse cells. Molecular & Cellular Proteomics : McP. PMID 29773673 DOI: 10.1074/Mcp.Ra118.000720 |
0.729 |
|
| 2017 |
Ludwig NF, Velho RV, Sperb-Ludwig F, Acosta AX, Ribeiro EM, Kim C, Gandelman Horovitz DD, Boy R, Rodovalho-Doriqui MJ, Lourenço CM, Santos ES, Braulke T, Pohl S, Schwartz IVD. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. The International Journal of Biochemistry & Cell Biology. PMID 28918368 DOI: 10.1016/j.biocel.2017.09.006 |
0.34 |
|
| 2017 |
Velho RV, De Pace R, Klünder S, Di Lorenzo G, Schweizer M, Braulke T, Pohl S. Site-1 protease and lysosomal homeostasis. Biochimica Et Biophysica Acta. 1864: 2162-2168. PMID 28693924 DOI: 10.1016/j.bbamcr.2017.06.023 |
0.718 |
|
| 2017 |
Schmiesing J, Lohmöller B, Schweizer M, Tidow H, Gersting SW, Muntau AC, Braulke T, Mühlhausen C. Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. Human Molecular Genetics. 26: 538-551. PMID 28062662 DOI: 10.1093/hmg/ddw411 |
0.322 |
|
| 2016 |
Velho RV, De Pace R, Tidow H, Braulke T, Pohl S. Identification of the interaction domains between α- and γ-subunits of GlcNAc-1-phosphotransferase. Febs Letters. 590: 4287-4295. PMID 27736005 DOI: 10.1002/1873-3468.12456 |
0.74 |
|
| 2016 |
Koehne T, Markmann S, Schweizer M, Muschol N, Friedrich RE, Hagel C, Glatzel M, Kahl-Nieke B, Amling M, Schinke T, Braulke T. Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development. Biochimica Et Biophysica Acta. PMID 27239697 DOI: 10.1016/J.Bbadis.2016.05.018 |
0.303 |
|
| 2015 |
De Pace R, Velho RV, Encarnação M, Marschner K, Braulke T, Pohl S. Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex. Human Molecular Genetics. 24: 6826-35. PMID 26385638 DOI: 10.1093/hmg/ddv387 |
0.748 |
|
| 2015 |
Blanz J, Zunke F, Markmann S, Damme M, Braulke T, Saftig P, Schwake M. Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2. Traffic (Copenhagen, Denmark). 16: 1127-36. PMID 26219725 DOI: 10.1111/tra.12313 |
0.354 |
|
| 2015 |
Klünder S, Heeren J, Markmann S, Santer R, Braulke T, Pohl S. Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control. Journal of Lipid Research. 56: 1625-32. PMID 26108224 DOI: 10.1194/jlr.M060756 |
0.566 |
|
| 2015 |
Velho RV, De Pace R, Klünder S, Sperb-Ludwig F, Lourenço CM, Schwartz IV, Braulke T, Pohl S. Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site. Human Molecular Genetics. 24: 3497-505. PMID 25788519 DOI: 10.1093/hmg/ddv100 |
0.74 |
|
| 2014 |
De Pace R, Coutinho MF, Koch-Nolte F, Haag F, Prata MJ, Alves S, Braulke T, Pohl S. Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB). Human Mutation. 35: 368-76. PMID 24375680 DOI: 10.1002/humu.22502 |
0.717 |
|
| 2014 |
Madhavarao CN, Agarabi CD, Wong L, Müller-Loennies S, Braulke T, Khan M, Anderson H, Johnson GR. Evaluation of butyrate-induced production of a mannose-6-phosphorylated therapeutic enzyme using parallel bioreactors. Biotechnology and Applied Biochemistry. 61: 184-92. PMID 24033810 DOI: 10.1002/Bab.1151 |
0.309 |
|
| 2013 |
Franke M, Braulke T, Storch S. Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif. The Journal of Biological Chemistry. 288: 1238-49. PMID 23192343 DOI: 10.1074/jbc.M112.407676 |
0.55 |
|
| 2012 |
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. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice. Brain : a Journal of Neurology. 135: 2661-75. PMID 22961545 DOI: 10.1093/Brain/Aws209 |
0.36 |
|
| 2011 |
Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S. A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism Science. 333: 87-90. PMID 21719679 DOI: 10.1126/science.1205677 |
0.569 |
|
| 2011 |
Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome American Journal of Medical Genetics, Part A. 155: 1634-1639. PMID 21671382 DOI: 10.1002/ajmg.a.34053 |
0.37 |
|
| 2011 |
Encarnação M, Kollmann K, Trusch M, Braulke T, Pohl S. Post-translational modifications of the γ-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase Journal of Biological Chemistry. 286: 5311-5318. PMID 21173149 DOI: 10.1074/jbc.M110.202382 |
0.527 |
|
| 2010 |
Pohl S, Tiede S, Marschner K, Encarnação M, Castrichini M, Kollmann K, Muschol N, Ullrich K, Müller-Loennies S, Braulke T. Proteolytic processing of the γ-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages Journal of Biological Chemistry. 285: 23936-23944. PMID 20489197 DOI: 10.1074/jbc.M110.129684 |
0.417 |
|
| 2010 |
Pohl S, Encarnacão M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T. Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics. American Journal of Medical Genetics. Part A. 152: 124-32. PMID 20034096 DOI: 10.1002/ajmg.a.33170 |
0.416 |
|
| 2010 |
Kurze AK, Galliciotti G, Heine C, Mole SE, Quitsch A, Braulke T. Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. Human Mutation. 31: E1163-74. PMID 20020536 DOI: 10.1002/Humu.21184 |
0.347 |
|
| 2010 |
Kollmann K, Pohl S, Marschner K, Encarnação M, Sakwa I, Tiede S, Poorthuis BJ, Lübke T, Müller-Loennies S, Storch S, Braulke T. Mannose phosphorylation in health and disease. European Journal of Cell Biology. 89: 117-23. PMID 19945768 DOI: 10.1016/j.ejcb.2009.10.008 |
0.407 |
|
| 2009 |
Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T. Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma. Biochimica Et Biophysica Acta. 1792: 221-5. PMID 19708128 DOI: 10.1016/j.bbadis.2009.01.009 |
0.456 |
|
| 2009 |
Pohl S, Marschner K, Storch S, Braulke T. Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases. Biological Chemistry. 390: 521-7. PMID 19426136 DOI: 10.1515/BC.2009.076 |
0.401 |
|
| 2009 |
Braulke T, Bonifacino JS. Sorting of lysosomal proteins. Biochimica Et Biophysica Acta. 1793: 605-14. PMID 19046998 DOI: 10.1016/J.Bbamcr.2008.10.016 |
0.523 |
|
| 2008 |
Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). Human Molecular Genetics. 17: 3854-63. PMID 18775954 DOI: 10.1093/hmg/ddn284 |
0.318 |
|
| 2008 |
Braulke T, Pohl S, Storch S. Molecular analysis of the GlcNac-1-phosphotransferase. Journal of Inherited Metabolic Disease. 31: 253-7. PMID 18425436 DOI: 10.1007/s10545-008-0862-5 |
0.441 |
|
| 2006 |
Tiede S, Cantz M, Spranger J, Braulke T. Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. Human Mutation. 27: 830-1. PMID 16835905 DOI: 10.1002/humu.9443 |
0.387 |
|
| 2005 |
Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Medicine. 11: 1109-12. PMID 16200072 DOI: 10.1038/nm1305 |
0.423 |
|
| 2005 |
Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T. Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. American Journal of Medical Genetics. Part A. 137: 235-40. PMID 16094673 DOI: 10.1002/ajmg.a.30868 |
0.362 |
|
| 2004 |
Tiede S, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T. A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. Human Mutation. 24: 535. PMID 15532026 DOI: 10.1002/humu.9293 |
0.416 |
|
| 2004 |
Storch S, Pohl S, Braulke T. A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting. The Journal of Biological Chemistry. 279: 53625-34. PMID 15469932 DOI: 10.1074/jbc.M410930200 |
0.337 |
|
| 2004 |
Heine C, Koch B, Storch S, Kohlschütter A, Palmer DN, Braulke T. Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A. The Journal of Biological Chemistry. 279: 22347-52. PMID 15010453 DOI: 10.1074/jbc.M400643200 |
0.325 |
|
| 2004 |
Tsiakas K, Steinfeld R, Storch S, Ezaki J, Lukacs Z, Kominami E, Kohlschütter A, Ullrich K, Braulke T. Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. Glycobiology. 14: 1C-5C. PMID 14736728 DOI: 10.1093/glycob/cwh054 |
0.301 |
|
| 2003 |
Storch S, Wittenstein B, Islam R, Ullrich K, Sly WS, Braulke T. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. Human Genetics. 112: 190-4. PMID 12522561 DOI: 10.1007/s00439-002-0849-5 |
0.36 |
|
| 2003 |
Partanen S, Storch S, Löffler HG, Hasilik A, Tyynelä J, Braulke T. A replacement of the active-site aspartic acid residue 293 in mouse cathepsin D affects its intracellular stability, processing and transport in HEK-293 cells. The Biochemical Journal. 369: 55-62. PMID 12350228 DOI: 10.1042/BJ20021226 |
0.325 |
|
| 2000 |
Storch S, Braulke T. Multiple C-terminal motifs of the 46-kDa mannose 6-phosphate receptor tail contribute to efficient binding of medium chains of AP-2 and AP-3. The Journal of Biological Chemistry. 276: 4298-303. PMID 11071885 DOI: 10.1074/JBC.M005548200 |
0.307 |
|
| 1999 |
Breuer P, Braulke T. Stabilization of mutant 46-kDa mannose 6-phosphate receptors by proteasomal inhibitor lactacystin. The Journal of Biological Chemistry. 273: 33254-8. PMID 9837896 DOI: 10.1074/JBC.273.50.33254 |
0.312 |
|
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