Proteomics of the lysosome
Lübke T, Lobel P, Sleat DE (2009)
Biochimica et Biophysica Acta 1793(4): 625-635.
Zeitschriftenaufsatz
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Autor*in
Lübke, TorbenUniBi ;
Lobel, Peter;
Sleat, David E.
Einrichtung
Erscheinungsjahr
2009
Zeitschriftentitel
Biochimica et Biophysica Acta
Band
1793
Ausgabe
4
Seite(n)
625-635
ISSN
0167-4889
Page URI
https://pub.uni-bielefeld.de/record/1939981
Zitieren
Lübke T, Lobel P, Sleat DE. Proteomics of the lysosome. Biochimica et Biophysica Acta. 2009;1793(4):625-635.
Lübke, T., Lobel, P., & Sleat, D. E. (2009). Proteomics of the lysosome. Biochimica et Biophysica Acta, 1793(4), 625-635. https://doi.org/10.1016/j.bbamcr.2008.09.018
Lübke, Torben, Lobel, Peter, and Sleat, David E. 2009. “Proteomics of the lysosome”. Biochimica et Biophysica Acta 1793 (4): 625-635.
Lübke, T., Lobel, P., and Sleat, D. E. (2009). Proteomics of the lysosome. Biochimica et Biophysica Acta 1793, 625-635.
Lübke, T., Lobel, P., & Sleat, D.E., 2009. Proteomics of the lysosome. Biochimica et Biophysica Acta, 1793(4), p 625-635.
T. Lübke, P. Lobel, and D.E. Sleat, “Proteomics of the lysosome”, Biochimica et Biophysica Acta, vol. 1793, 2009, pp. 625-635.
Lübke, T., Lobel, P., Sleat, D.E.: Proteomics of the lysosome. Biochimica et Biophysica Acta. 1793, 625-635 (2009).
Lübke, Torben, Lobel, Peter, and Sleat, David E. “Proteomics of the lysosome”. Biochimica et Biophysica Acta 1793.4 (2009): 625-635.
Daten bereitgestellt von European Bioinformatics Institute (EBI)
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Liu Z, Lv YJ, Song YP, Li XH, Du YN, Wang CH, Hu LK., Oncol Rep 28(3), 2012
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Liu Z, Lv YJ, Song YP, Li XH, Du YN, Wang CH, Hu LK., Oncol Rep 28(3), 2012
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TM7SF1 (GPR137B): a novel lysosome integral membrane protein.
Gao J, Xia L, Lu M, Zhang B, Chen Y, Xu R, Wang L., Mol Biol Rep 39(9), 2012
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Gao J, Xia L, Lu M, Zhang B, Chen Y, Xu R, Wang L., Mol Biol Rep 39(9), 2012
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Degradation of connexins through the proteasomal, endolysosomal and phagolysosomal pathways.
Su V, Cochrane K, Lau AF., J Membr Biol 245(7), 2012
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Genome-wide matching of genes to cellular roles using guilt-by-association models derived from single sample analysis.
Klomp JA, Furge KA., BMC Res Notes 5(), 2012
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Klomp JA, Furge KA., BMC Res Notes 5(), 2012
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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., Brain 135(pt 9), 2012
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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., Brain 135(pt 9), 2012
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Group XV phospholipase A₂, a lysosomal phospholipase A₂.
Shayman JA, Kelly R, Kollmeyer J, He Y, Abe A., Prog Lipid Res 50(1), 2011
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Shayman JA, Kelly R, Kollmeyer J, He Y, Abe A., Prog Lipid Res 50(1), 2011
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rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA.
Haud N, Kara F, Diekmann S, Henneke M, Willer JR, Hillwig MS, Gregg RG, Macintosh GC, Gärtner J, Alia A, Hurlstone AF., Proc Natl Acad Sci U S A 108(3), 2011
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Haud N, Kara F, Diekmann S, Henneke M, Willer JR, Hillwig MS, Gregg RG, Macintosh GC, Gärtner J, Alia A, Hurlstone AF., Proc Natl Acad Sci U S A 108(3), 2011
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Classification of subcellular location by comparative proteomic analysis of native and density-shifted lysosomes.
Della Valle MC, Sleat DE, Zheng H, Moore DF, Jadot M, Lobel P., Mol Cell Proteomics 10(4), 2011
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Mutation in the βA3/A1-crystallin gene impairs phagosome degradation in the retinal pigmented epithelium of the rat.
Zigler JS, Zhang C, Grebe R, Sehrawat G, Hackler L, Adhya S, Hose S, McLeod DS, Bhutto I, Barbour W, Parthasarathy G, Zack DJ, Sergeev Y, Lutty GA, Handa JT, Sinha D., J Cell Sci 124(pt 4), 2011
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Two dileucine motifs mediate late endosomal/lysosomal targeting of transmembrane protein 192 (TMEM192) and a C-terminal cysteine residue is responsible for disulfide bond formation in TMEM192 homodimers.
Behnke J, Eskelinen EL, Saftig P, Schröder B., Biochem J 434(2), 2011
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Cell-centric view of apoptosis and apoptotic cell death-inducing antitumoral strategies.
Apraiz A, Boyano MD, Asumendi A., Cancers (Basel) 3(1), 2011
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Apraiz A, Boyano MD, Asumendi A., Cancers (Basel) 3(1), 2011
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Mycobacterium tuberculosis induces an atypical cell death mode to escape from infected macrophages.
Lee J, Repasy T, Papavinasasundaram K, Sassetti C, Kornfeld H., PLoS One 6(3), 2011
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Lee J, Repasy T, Papavinasasundaram K, Sassetti C, Kornfeld H., PLoS One 6(3), 2011
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Systems biology of the autophagy-lysosomal pathway.
Jegga AG, Schneider L, Ouyang X, Zhang J., Autophagy 7(5), 2011
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ErbB2-associated changes in the lysosomal proteome.
Nylandsted J, Becker AC, Bunkenborg J, Andersen JS, Dengjel J, Jäättelä M., Proteomics 11(14), 2011
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Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells.
Lemonnier T, Blanchard S, Toli D, Roy E, Bigou S, Froissart R, Rouvet I, Vitry S, Heard JM, Bohl D., Hum Mol Genet 20(18), 2011
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Mannose 6-phosphate receptor homology (MRH) domain-containing lectins in the secretory pathway.
Castonguay AC, Olson LJ, Dahms NM., Biochim Biophys Acta 1810(9), 2011
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Castonguay AC, Olson LJ, Dahms NM., Biochim Biophys Acta 1810(9), 2011
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Plasma membrane proteomic analysis of human osteosarcoma and osteoblastic cells: revealing NDRG1 as a marker for osteosarcoma.
Hua Y, Jia X, Sun M, Zheng L, Yin L, Zhang L, Cai Z., Tumour Biol 32(5), 2011
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Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.
Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M, Ballabio A., Hum Mol Genet 20(19), 2011
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Aldo-keto reductase family 1, member B10 is secreted through a lysosome-mediated non-classical pathway.
Luo DX, Huang MC, Ma J, Gao Z, Liao DF, Cao D., Biochem J 438(1), 2011
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Luo DX, Huang MC, Ma J, Gao Z, Liao DF, Cao D., Biochem J 438(1), 2011
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Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC.
Fan X, Tkachyova I, Sinha A, Rigat B, Mahuran D., PLoS One 6(9), 2011
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Lysosomal degradation of membrane lipids.
Kolter T, Sandhoff K., FEBS Lett 584(9), 2010
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Qian Y, Lee I, Lee WS, Qian M, Kudo M, Canfield WM, Lobel P, Kornfeld S., J Biol Chem 285(5), 2010
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N-acylethanolamine metabolism with special reference to N-acylethanolamine-hydrolyzing acid amidase (NAAA).
Ueda N, Tsuboi K, Uyama T., Prog Lipid Res 49(4), 2010
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Hume DA, Summers KM, Raza S, Baillie JK, Freeman TC., Genomics 95(6), 2010
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Segretain D, Gilleron J, Carette D, Denizot JP, Pointis G., Dev Dyn 239(4), 2010
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Lysosomal function in macromolecular homeostasis and bioenergetics in Parkinson's disease.
Schneider L, Zhang J., Mol Neurodegener 5(), 2010
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Pathophysiology of neuropathic lysosomal storage disorders.
Bellettato CM, Scarpa M., J Inherit Metab Dis 33(4), 2010
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Comparative proteomic analysis of plasma membrane proteins between human osteosarcoma and normal osteoblastic cell lines.
Zhang Z, Zhang L, Hua Y, Jia X, Li J, Hu S, Peng X, Yang P, Sun M, Ma F, Cai Z., BMC Cancer 10(), 2010
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Zhang Z, Zhang L, Hua Y, Jia X, Li J, Hu S, Peng X, Yang P, Sun M, Ma F, Cai Z., BMC Cancer 10(), 2010
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A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.
Müller-Loennies S, Galliciotti G, Kollmann K, Glatzel M, Braulke T., Am J Pathol 177(1), 2010
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Structural basis for recognition of phosphodiester-containing lysosomal enzymes by the cation-independent mannose 6-phosphate receptor.
Olson LJ, Peterson FC, Castonguay A, Bohnsack RN, Kudo M, Gotschall RR, Canfield WM, Volkman BF, Dahms NM., Proc Natl Acad Sci U S A 107(28), 2010
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The proteome of lysosomes.
Schröder BA, Wrocklage C, Hasilik A, Saftig P., Proteomics 10(22), 2010
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SID1 transmembrane family, member 2 (Sidt2): a novel lysosomal membrane protein.
Jialin G, Xuefan G, Huiwen Z., Biochem Biophys Res Commun 402(4), 2010
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Subcellular fractionation methods and strategies for proteomics.
Lee YH, Tan HT, Chung MC., Proteomics 10(22), 2010
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Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology.
Sleat DE, Ding L, Wang S, Zhao C, Wang Y, Xin W, Zheng H, Moore DF, Sims KB, Lobel P., Mol Cell Proteomics 8(7), 2009
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A gene network regulating lysosomal biogenesis and function.
Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A., Science 325(5939), 2009
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NCU-G1 is a highly glycosylated integral membrane protein of the lysosome.
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Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function.
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Journet A, Chapel A, Kieffer S, Louwagie M, Luche S, Garin J., Electrophoresis 21(16), 2000
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Journet A, Chapel A, Kieffer S, Louwagie M, Luche S, Garin J., Electrophoresis 21(16), 2000
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Proteomic analysis of human lysosomes: application to monocytic and breast cancer cells.
Journet A, Chapel A, Kieffer S, Roux F, Garin J., Proteomics 2(8), 2002
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Journet A, Chapel A, Kieffer S, Roux F, Garin J., Proteomics 2(8), 2002
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Identification of novel lysosomal matrix proteins by proteome analysis.
Kollmann K, Mutenda KE, Balleininger M, Eckermann E, von Figura K, Schmidt B, Lubke T., Proteomics 5(15), 2005
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Kollmann K, Mutenda KE, Balleininger M, Eckermann E, von Figura K, Schmidt B, Lubke T., Proteomics 5(15), 2005
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LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
Reczek D, Schwake M, Schroder J, Hughes H, Blanz J, Jin X, Brondyk W, Van Patten S, Edmunds T, Saftig P., Cell 131(4), 2007
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Integral and associated lysosomal membrane proteins.
Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H, Elsasser HP, Mann M, Hasilik A., Traffic 8(12), 2007
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A model for random sampling and estimation of relative protein abundance in shotgun proteomics.
Liu H, Sadygov RG, Yates JR 3rd., Anal. Chem. 76(14), 2004
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Tackett AJ, DeGrasse JA, Sekedat MD, Oeffinger M, Rout MP, Chait BT., J. Proteome Res. 4(5), 2005
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GFP-like proteins stably accumulate in lysosomes.
Katayama H, Yamamoto A, Mizushima N, Yoshimori T, Miyawaki A., Cell Struct. Funct. 33(1), 2008
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Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells.
Kakkis ED, Matynia A, Jonas AJ, Neufeld EF., Protein Expr. Purif. 5(3), 1994
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Kakkis ED, Matynia A, Jonas AJ, Neufeld EF., Protein Expr. Purif. 5(3), 1994
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Increased expression of the acid sphingomyelinase-like protein ASML3a in bladder tumors.
Wright KO, Messing EM, Reeder JE., J. Urol. 168(6), 2002
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A cellular repressor of E1A-stimulated genes that inhibits activation by E2F.
Veal E, Eisenstein M, Tseng ZH, Gill G., Mol. Cell. Biol. 18(9), 1998
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Veal E, Eisenstein M, Tseng ZH, Gill G., Mol. Cell. Biol. 18(9), 1998
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The secreted glycoprotein CREG inhibits cell growth dependent on the mannose-6-phosphate/insulin-like growth factor II receptor.
Di Bacco A, Gill G., Oncogene 22(35), 2003
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Di Bacco A, Gill G., Oncogene 22(35), 2003
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CREG promotes a mature smooth muscle cell phenotype and reduces neointimal formation in balloon-injured rat carotid artery
Han Y, Deng J, Guo L, Yan C, Liang M, Kang J, Liu H, Graham AM, Li S., 2008
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Cellular repressor of E1A-stimulated genes is a bona fide lysosomal protein which undergoes proteolytic maturation during its biosynthesis.
Schahs P, Weidinger P, Probst OC, Svoboda B, Stadlmann J, Beug H, Waerner T, Mach L., Exp. Cell Res. 314(16), 2008
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Schahs P, Weidinger P, Probst OC, Svoboda B, Stadlmann J, Beug H, Waerner T, Mach L., Exp. Cell Res. 314(16), 2008
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Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG).
Ferrante P, Messali S, Meroni G, Ballabio A., Eur. J. Hum. Genet. 10(12), 2002
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Ferrante P, Messali S, Meroni G, Ballabio A., Eur. J. Hum. Genet. 10(12), 2002
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Arylsulfatase G, a novel lysosomal sulfatase.
Frese MA, Schulz S, Dierks T., J. Biol. Chem. 283(17), 2008
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Sardiello M, Annunziata I, Roma G, Ballabio A., Hum. Mol. Genet. 14(21), 2005
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Molecular cloning and initial characterization of three novel human sulfatases.
Obaya AJ., Gene 372(), 2006
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Obaya AJ., Gene 372(), 2006
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An acid amidase hydrolyzing anandamide as an endogenous ligand for cannabinoid receptors.
Ueda N, Yamanaka K, Terasawa Y, Yamamoto S., FEBS Lett. 454(3), 1999
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Ueda N, Yamanaka K, Terasawa Y, Yamamoto S., FEBS Lett. 454(3), 1999
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Purification and characterization of an acid amidase selective for N-palmitoylethanolamine, a putative endogenous anti-inflammatory substance.
Ueda N, Yamanaka K, Yamamoto S., J. Biol. Chem. 276(38), 2001
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Ueda N, Yamanaka K, Yamamoto S., J. Biol. Chem. 276(38), 2001
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Molecular cloning and characterization of a human cDNA and gene encoding a novel acid ceramidase-like protein.
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Molecular characterization of N-acylethanolamine-hydrolyzing acid amidase, a novel member of the choloylglycine hydrolase family with structural and functional similarity to acid ceramidase.
Tsuboi K, Sun YX, Okamoto Y, Araki N, Tonai T, Ueda N., J. Biol. Chem. 280(12), 2005
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Tsuboi K, Takezaki N, Ueda N., Chem. Biodivers. 4(8), 2007
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Molecular characterization of the hypothetical 66.3-kDa protein in mouse: lysosomal targeting, glycosylation, processing and tissue distribution.
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Biochemical characterization and lysosomal localization of the mannose-6-phosphate protein p76 (hypothetical protein LOC196463).
Jensen AG, Chemali M, Chapel A, Kieffer-Jaquinod S, Jadot M, Garin J, Journet A., Biochem. J. 402(3), 2007
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Jensen AG, Chemali M, Chapel A, Kieffer-Jaquinod S, Jadot M, Garin J, Journet A., Biochem. J. 402(3), 2007
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Biochemical characterisation and lysosomal localisation of the mannose-6-phosphate protein p76 (hypothetical protein LOC196463)
Jensen AG, Chemali M, Chapel A, Kieffer-Jaquinod S, Jadot M, Garin J, Journet A., 2006
Jensen AG, Chemali M, Chapel A, Kieffer-Jaquinod S, Jadot M, Garin J, Journet A., 2006
Electron microscopic demonstration of phospholipase B activity in the liver and the kidney of the mouse.
Nagata T, Iwadare N., Histochemistry 80(2), 1984
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Nagata T, Iwadare N., Histochemistry 80(2), 1984
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Alexander DL, Schwartz KJ, Balber AE, Bangs JD., J. Cell. Sci. 115(Pt 16), 2002
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The LAMP-like protein p67 plays an essential role in the lysosome of African trypanosomes.
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Brain metabolism and the acquisition of new behaviors. III. Evidence for secretion of two proteins into the brain extracellular fluid after training.
Shashoua VE., Brain Res. 166(2), 1979
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The novel ependymin related gene UCC1 is highly expressed in colorectal tumor cells.
Nimmrich I, Erdmann S, Melchers U, Chtarbova S, Finke U, Hentsch S, Hoffmann I, Oertel M, Hoffmann W, Muller O., Cancer Lett. 165(1), 2001
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Nimmrich I, Erdmann S, Melchers U, Chtarbova S, Finke U, Hentsch S, Hoffmann I, Oertel M, Hoffmann W, Muller O., Cancer Lett. 165(1), 2001
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MERP1: a mammalian ependymin-related protein gene differentially expressed in hematopoietic cells.
Gregorio-King CC, McLeod JL, Collier FM, Collier GR, Bolton KA, Van Der Meer GJ, Apostolopoulos J, Kirkland MA., Gene 286(2), 2002
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Gregorio-King CC, McLeod JL, Collier FM, Collier GR, Bolton KA, Van Der Meer GJ, Apostolopoulos J, Kirkland MA., Gene 286(2), 2002
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Cloning of a novel retinoid-inducible serine carboxypeptidase from vascular smooth muscle cells.
Chen J, Streb JW, Maltby KM, Kitchen CM, Miano JM., J. Biol. Chem. 276(36), 2001
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Chen J, Streb JW, Maltby KM, Kitchen CM, Miano JM., J. Biol. Chem. 276(36), 2001
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Carboxypeptidase Y: structural basis for protein sorting and catalytic triad.
Jung G, Ueno H, Hayashi R., J. Biochem. 126(1), 1999
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Jin YZ, Dacheux F, Dacheux JL, Bannai S, Sugita Y, Okamura N., Biochim. Biophys. Acta 1432(2), 1999
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Jin YZ, Dacheux F, Dacheux JL, Bannai S, Sugita Y, Okamura N., Biochim. Biophys. Acta 1432(2), 1999
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Refinement of the expression pattern of a mouse homologue of the porcine 135-kDa alpha-d-mannosidase (MAN2B2).
Tascou S, Nayernia K, Engel W, Burfeind P., Biochem. Biophys. Res. Commun. 272(3), 2000
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Tascou S, Nayernia K, Engel W, Burfeind P., Biochem. Biophys. Res. Commun. 272(3), 2000
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Characterization of a human core-specific lysosomal {alpha}1,6-mannosidase involved in N-glycan catabolism.
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Park C, Meng L, Stanton LH, Collins RE, Mast SW, Yi X, Strachan H, Moremen KW., J. Biol. Chem. 280(44), 2005
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A human lysosomal alpha(1----6)-mannosidase active on the branched trimannosyl core of complex glycans.
Daniel PF, Evans JE, De Gasperi R, Winchester B, Warren CD., Glycobiology 2(4), 1992
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Daniel PF, Evans JE, De Gasperi R, Winchester B, Warren CD., Glycobiology 2(4), 1992
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A human lysosomal alpha-mannosidase specific for the core of complex glycans.
De Gasperi R, Daniel PF, Warren CD., J. Biol. Chem. 267(14), 1992
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De Gasperi R, Daniel PF, Warren CD., J. Biol. Chem. 267(14), 1992
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The core-specific lysosomal alpha(1-6)-mannosidase activity depends on aspartamidohydrolase activity.
Haeuw JF, Grard T, Alonso C, Strecker G, Michalski JC., Biochem. J. 297 ( Pt 3)(), 1994
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Haeuw JF, Grard T, Alonso C, Strecker G, Michalski JC., Biochem. J. 297 ( Pt 3)(), 1994
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Characterization of RNASET2, the first human member of the Rh/T2/S family of glycoproteins.
Campomenosi P, Salis S, Lindqvist C, Mariani D, Nordstrom T, Acquati F, Taramelli R., Arch. Biochem. Biophys. 449(1-2), 2006
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Campomenosi P, Salis S, Lindqvist C, Mariani D, Nordstrom T, Acquati F, Taramelli R., Arch. Biochem. Biophys. 449(1-2), 2006
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Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.
Zavialov AV, Engstrom A., Biochem. J. 391(Pt 1), 2005
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Zavialov AV, Engstrom A., Biochem. J. 391(Pt 1), 2005
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Identification of acyloxyacyl hydrolase, a lipopolysaccharide-detoxifying enzyme, in the murine urinary tract.
Feulner JA, Lu M, Shelton JM, Zhang M, Richardson JA, Munford RS., Infect. Immun. 72(6), 2004
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Feulner JA, Lu M, Shelton JM, Zhang M, Richardson JA, Munford RS., Infect. Immun. 72(6), 2004
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Acyloxyacyl hydrolase, a leukocyte enzyme that deacylates bacterial lipopolysaccharides, has phospholipase, lysophospholipase, diacylglycerollipase, and acyltransferase activities in vitro.
Munford RS, Hunter JP., J. Biol. Chem. 267(14), 1992
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Munford RS, Hunter JP., J. Biol. Chem. 267(14), 1992
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A saposin-like domain influences the intracellular localization, stability, and catalytic activity of human acyloxyacyl hydrolase.
Staab JF, Ginkel DL, Rosenberg GB, Munford RS., J. Biol. Chem. 269(38), 1994
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Staab JF, Ginkel DL, Rosenberg GB, Munford RS., J. Biol. Chem. 269(38), 1994
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Intracellular localization of p40, a protein identified in a preparation of lysosomal membranes.
Boonen M, Hamer I, Boussac M, Delsaute AF, Flamion B, Garin J, Jadot M., Biochem. J. 395(1), 2006
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Boonen M, Hamer I, Boussac M, Delsaute AF, Flamion B, Garin J, Jadot M., Biochem. J. 395(1), 2006
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Biosynthesis, glycosylation, movement through the Golgi system, and transport to lysosomes by an N-linked carbohydrate-independent mechanism of three lysosomal integral membrane proteins.
Barriocanal JG, Bonifacino JS, Yuan L, Sandoval IV., J. Biol. Chem. 261(35), 1986
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Barriocanal JG, Bonifacino JS, Yuan L, Sandoval IV., J. Biol. Chem. 261(35), 1986
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Asparagine-linked oligosaccharides protect Lamp-1 and Lamp-2 from intracellular proteolysis.
Kundra R, Kornfeld S., J. Biol. Chem. 274(43), 1999
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Kundra R, Kornfeld S., J. Biol. Chem. 274(43), 1999
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TMEM74, a lysosome and autophagosome protein, regulates autophagy.
Yu C, Wang L, Lv B, Lu Y, Zeng L, Chen Y, Ma D, Shi T, Wang L., Biochem. Biophys. Res. Commun. 369(2), 2008
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Yu C, Wang L, Lv B, Lu Y, Zeng L, Chen Y, Ma D, Shi T, Wang L., Biochem. Biophys. Res. Commun. 369(2), 2008
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Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.
Klein U, Kresse H, von Figura K., Proc. Natl. Acad. Sci. U.S.A. 75(10), 1978
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Klein U, Kresse H, von Figura K., Proc. Natl. Acad. Sci. U.S.A. 75(10), 1978
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Acetyl coenzyme A: alpha-glucosaminide N-acetyltransferase. Evidence for a transmembrane acetylation mechanism.
Bame KJ, Rome LH., J. Biol. Chem. 260(20), 1985
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Bame KJ, Rome LH., J. Biol. Chem. 260(20), 1985
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Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV., Am. J. Hum. Genet. 79(5), 2006
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Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV., Am. J. Hum. Genet. 79(5), 2006
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Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lubke T, di Natale P, Cosma MP, Ballabio A., Hum. Mutat. 28(5), 2007
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Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lubke T, di Natale P, Cosma MP, Ballabio A., Hum. Mutat. 28(5), 2007
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The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE., Am. J. Hum. Genet. 81(1), 2007
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Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE., Am. J. Hum. Genet. 81(1), 2007
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