-
3
-
-
0346059334
-
Lysosomal storage disorders: emerging therapeutic options require early diagnosis
-
Meikle P.J., Hopwood J.J. Lysosomal storage disorders: emerging therapeutic options require early diagnosis. Eur. J. Pediatr. 2003, 162(Suppl. 1):S34-S37.
-
(2003)
Eur. J. Pediatr.
, vol.162
, Issue.SUPPL. 1
-
-
Meikle, P.J.1
Hopwood, J.J.2
-
4
-
-
0024430948
-
Chicken and Xenopus mannose 6-phosphate receptors fail to bind insulin-like growth factor II
-
Clairmont K.B., Czech M.P. Chicken and Xenopus mannose 6-phosphate receptors fail to bind insulin-like growth factor II. J. Biol. Chem. 1989, 264:16390-16392.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 16390-16392
-
-
Clairmont, K.B.1
Czech, M.P.2
-
5
-
-
0028007664
-
UDP-N-acetylglucosamine: glycoprotein N-acetylglucosamine-1-phosphotransferase activity in pupae of the Mediterranean fruit fly Ceratitis capitata
-
Guillen E., Quesada-Allue L.A., Couso R.O. UDP-N-acetylglucosamine: glycoprotein N-acetylglucosamine-1-phosphotransferase activity in pupae of the Mediterranean fruit fly Ceratitis capitata. Insect Biochem. Mol. Biol. 1994, 24:213-219.
-
(1994)
Insect Biochem. Mol. Biol.
, vol.24
, pp. 213-219
-
-
Guillen, E.1
Quesada-Allue, L.A.2
Couso, R.O.3
-
6
-
-
0029049356
-
Characterization of the mannose 6-phosphate-dependent pathway of lysosomal enzyme routing in an invertebrate
-
Alvarez V., Parodi A.J., Couso R. Characterization of the mannose 6-phosphate-dependent pathway of lysosomal enzyme routing in an invertebrate. Biochem. J. 1995, 310:589-595.
-
(1995)
Biochem. J.
, vol.310
, pp. 589-595
-
-
Alvarez, V.1
Parodi, A.J.2
Couso, R.3
-
7
-
-
0022996804
-
Glycoprotein phosphorylation in simple eucaryotic organisms. Identification of UDP-GlcNAc:glycoprotein N-acetylglucosamine-1-phosphotransferase activity and analysis of substrate specificity
-
Lang L., Couso R., Kornfeld S. Glycoprotein phosphorylation in simple eucaryotic organisms. Identification of UDP-GlcNAc:glycoprotein N-acetylglucosamine-1-phosphotransferase activity and analysis of substrate specificity. J. Biol. Chem. 1986, 261:6320-6325.
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 6320-6325
-
-
Lang, L.1
Couso, R.2
Kornfeld, S.3
-
8
-
-
77949491710
-
UDP-GlcNAc:Glycoprotein N-acetylglucosamine-1-phosphotransferase mediates the initial step in the formation of the methylphosphomannosyl residues on the high mannose oligosaccharides of Dictyostelium discoideum glycoproteins
-
Qian Y., West C.M., Kornfeld S. UDP-GlcNAc:Glycoprotein N-acetylglucosamine-1-phosphotransferase mediates the initial step in the formation of the methylphosphomannosyl residues on the high mannose oligosaccharides of Dictyostelium discoideum glycoproteins. Biochem. Biophys. Res. Commun. 2010, 393:678-681.
-
(2010)
Biochem. Biophys. Res. Commun.
, vol.393
, pp. 678-681
-
-
Qian, Y.1
West, C.M.2
Kornfeld, S.3
-
9
-
-
0026686383
-
Characterization of UDP-N-acetylglucosamine:glycoprotein N-acetylglucosamine-1-phosphotransferase from Acanthamoeba castellanii
-
Ketcham C.M., Kornfeld S. Characterization of UDP-N-acetylglucosamine:glycoprotein N-acetylglucosamine-1-phosphotransferase from Acanthamoeba castellanii. J. Biol. Chem. 1992, 267:11654-11659.
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 11654-11659
-
-
Ketcham, C.M.1
Kornfeld, S.2
-
10
-
-
27144550841
-
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase
-
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. Nat. Med. 2005, 11(10):1109-1112.
-
(2005)
Nat. Med.
, vol.11
, Issue.10
, pp. 1109-1112
-
-
Tiede, S.1
Storch, S.2
Lübke, T.3
Henrissat, B.4
Bargal, R.5
Raas-Rothschild, A.6
Braulke, T.7
-
11
-
-
79959853238
-
A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism
-
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 2011, 333(6038):87-90.
-
(2011)
Science
, vol.333
, Issue.6038
, pp. 87-90
-
-
Marschner, K.1
Kollmann, K.2
Schweizer, M.3
Braulke, T.4
Pohl, S.5
-
12
-
-
19244386351
-
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)
-
Raas-Rothschild A., Cormier-Daire V., Bao M., Genin E., Salomon R., Brewer K., Zeigler M., Mandel H., Toth S., Roe B., Munnich A., Canfield W.M. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J. Clin. Invest. 2000, 105:673-681.
-
(2000)
J. Clin. Invest.
, vol.105
, pp. 673-681
-
-
Raas-Rothschild, A.1
Cormier-Daire, V.2
Bao, M.3
Genin, E.4
Salomon, R.5
Brewer, K.6
Zeigler, M.7
Mandel, H.8
Toth, S.9
Roe, B.10
Munnich, A.11
Canfield, W.M.12
-
13
-
-
24344454451
-
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site
-
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. Hum. Mutat. 2004, 24:535.
-
(2004)
Hum. Mutat.
, vol.24
, pp. 535
-
-
Tiede, S.1
Cantz, M.2
Raas-Rothschild, A.3
Muschol, N.4
Bürger, F.5
Ullrich, K.6
Braulke, T.7
-
14
-
-
79953159702
-
Post-translational modifications of the {gamma}-subunit affect intracellular trafficking and complex assembly of glcnac-1-phosphotransferase
-
Encarnação M., Kollmann K., Trusch M., Braulke T., Pohl S. Post-translational modifications of the {gamma}-subunit affect intracellular trafficking and complex assembly of glcnac-1-phosphotransferase. J. Biol. Chem. 2011, 286:5311-5318.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 5311-5318
-
-
Encarnação, M.1
Kollmann, K.2
Trusch, M.3
Braulke, T.4
Pohl, S.5
-
15
-
-
27744606539
-
The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA
-
Kudo M., Bao M., D'Souza A., Ying F., Pan H., Roe B.A., Canfield W.M. The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA. J. Biol. Chem. 2005, 280:36141-36149.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 36141-36149
-
-
Kudo, M.1
Bao, M.2
D'Souza, A.3
Ying, F.4
Pan, H.5
Roe, B.A.6
Canfield, W.M.7
-
16
-
-
34848903008
-
Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases
-
Lee W.S., Payne B.J., Gelfman C.M., Vogel P., Kornfeld S. Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases. J. Biol. Chem. 2007, 282:27198-27203.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 27198-27203
-
-
Lee, W.S.1
Payne, B.J.2
Gelfman, C.M.3
Vogel, P.4
Kornfeld, S.5
-
17
-
-
0029958044
-
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure
-
Bao M., Booth J.L., Elmendorf B.J., Canfield W.M. Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure. J. Biol. Chem. 1996, 271:31437-31445.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 31437-31445
-
-
Bao, M.1
Booth, J.L.2
Elmendorf, B.J.3
Canfield, W.M.4
-
18
-
-
33744952522
-
Structural requirements for efficient processing and activation of recombinant human UDP-N-acetylglucosamine:lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase
-
Kudo M., Canfield W.M. Structural requirements for efficient processing and activation of recombinant human UDP-N-acetylglucosamine:lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase. J. Biol. Chem. 2006, 281:11761-11768.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 11761-11768
-
-
Kudo, M.1
Canfield, W.M.2
-
19
-
-
25444436697
-
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA
-
Paik K.H., Song S.M., Ki C.S., Yu H.W., Kim J.S., Min K.H., Chang S.H., Yoo E.J., Lee I.J., Kwan E.K., Han S.J., Jin D.K. Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. Hum. Mutat. 2005, 26:308-314.
-
(2005)
Hum. Mutat.
, vol.26
, pp. 308-314
-
-
Paik, K.H.1
Song, S.M.2
Ki, C.S.3
Yu, H.W.4
Kim, J.S.5
Min, K.H.6
Chang, S.H.7
Yoo, E.J.8
Lee, I.J.9
Kwan, E.K.10
Han, S.J.11
Jin, D.K.12
-
20
-
-
0025043421
-
Generation of a lysosomal enzyme targeting signal in the secretory protein pepsinogen
-
Baranski T.J., Faust P.L., Kornfeld S. Generation of a lysosomal enzyme targeting signal in the secretory protein pepsinogen. Cell 1990, 63:81-91.
-
(1990)
Cell
, vol.63
, pp. 81-91
-
-
Baranski, T.J.1
Faust, P.L.2
Kornfeld, S.3
-
21
-
-
0026478889
-
Lysosomal enzyme phosphorylation. II. Protein recognition determinants in either lobe of procathepsin D are sufficient for phosphorylation of both the amino and carboxyl lobe oligosaccharides
-
Cantor A.B., Baranski T.J., Kornfeld S. Lysosomal enzyme phosphorylation. II. Protein recognition determinants in either lobe of procathepsin D are sufficient for phosphorylation of both the amino and carboxyl lobe oligosaccharides. J. Biol. Chem. 1992, 267:23349-23356.
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 23349-23356
-
-
Cantor, A.B.1
Baranski, T.J.2
Kornfeld, S.3
-
22
-
-
0029012951
-
Lysine-based structure in the proregion of procathepsin L is the recognition site for mannose phosphorylation
-
Cuozzo J.W., Tao K., Wu Q.L., Young W., Sahagian G.G. Lysine-based structure in the proregion of procathepsin L is the recognition site for mannose phosphorylation. J. Biol. Chem. 1995, 270:15611-15619.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 15611-15619
-
-
Cuozzo, J.W.1
Tao, K.2
Wu, Q.L.3
Young, W.4
Sahagian, G.G.5
-
23
-
-
77449112978
-
Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase
-
Qian Y., Lee I., Lee W.S., Qian M., Kudo M., Canfield W.M., Lobel P., Kornfeld S. Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. J. Biol. Chem. 2010, 285:3360-3370.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 3360-3370
-
-
Qian, Y.1
Lee, I.2
Lee, W.S.3
Qian, M.4
Kudo, M.5
Canfield, W.M.6
Lobel, P.7
Kornfeld, S.8
-
24
-
-
0028087591
-
Glycosylation and phosphorylation of arylsulfatase A
-
Sommerlade H.J., Selmer T., Ingendoh A., Gieselmann V., von Figura K., Neifer K., Schmidt B. Glycosylation and phosphorylation of arylsulfatase A. J. Biol. Chem. 1994, 269:20977-20981.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 20977-20981
-
-
Sommerlade, H.J.1
Selmer, T.2
Ingendoh, A.3
Gieselmann, V.4
von Figura, K.5
Neifer, K.6
Schmidt, B.7
-
25
-
-
38449099687
-
Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions
-
Gelfman C.M., Vogel P., Issa T.M., Turner C.A., Lee W.S., Kornfeld S., Rice D.S. Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions. Invest. Ophthalmol. Vis. Sci. 2007, 48(11):5221-5228.
-
(2007)
Invest. Ophthalmol. Vis. Sci.
, vol.48
, Issue.11
, pp. 5221-5228
-
-
Gelfman, C.M.1
Vogel, P.2
Issa, T.M.3
Turner, C.A.4
Lee, W.S.5
Kornfeld, S.6
Rice, D.S.7
-
26
-
-
61349169521
-
Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma
-
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. Biochim. Biophys. Acta 2009, 1792:221-225.
-
(2009)
Biochim. Biophys. Acta
, vol.1792
, pp. 221-225
-
-
Pohl, S.1
Tiede, S.2
Castrichini, M.3
Cantz, M.4
Gieselmann, V.5
Braulke, T.6
-
27
-
-
77954897974
-
Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages
-
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 gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages. J. Biol. Chem. 2010, 285:23936-23944.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 23936-23944
-
-
Pohl, S.1
Tiede, S.2
Marschner, K.3
Encarnação, M.4
Castrichini, M.5
Kollmann, K.6
Muschol, N.7
Ullrich, K.8
Müller-Loennies, S.9
Braulke, T.10
-
28
-
-
0019877434
-
Purification and characterization of rat liver alpha-N-acetylglucosaminyl phosphodiesterase
-
Varki A., Kornfeld S. Purification and characterization of rat liver alpha-N-acetylglucosaminyl phosphodiesterase. J. Biol. Chem. 1981, 256:9937-9943.
-
(1981)
J. Biol. Chem.
, vol.256
, pp. 9937-9943
-
-
Varki, A.1
Kornfeld, S.2
-
29
-
-
0032731195
-
Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
-
Kornfeld R., Bao M., Brewer K., Noll C., Canfield W. Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. J. Biol. Chem. 1999, 274:32778-32785.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 32778-32785
-
-
Kornfeld, R.1
Bao, M.2
Brewer, K.3
Noll, C.4
Canfield, W.5
-
30
-
-
0036479104
-
Multiple signals regulate trafficking of the mannose 6-phosphate-uncovering enzyme
-
Lee W.S., Rohrer J., Kornfeld R., Kornfeld S. Multiple signals regulate trafficking of the mannose 6-phosphate-uncovering enzyme. J. Biol. Chem. 2002, 277:3544-3551.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 3544-3551
-
-
Lee, W.S.1
Rohrer, J.2
Kornfeld, R.3
Kornfeld, S.4
-
31
-
-
0037119355
-
Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin
-
Do H., Lee W.S., Ghosh P., Hollowell T., Canfield W., Kornfeld S. Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin. J. Biol. Chem. 2002, 277:29737-29744.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 29737-29744
-
-
Do, H.1
Lee, W.S.2
Ghosh, P.3
Hollowell, T.4
Canfield, W.5
Kornfeld, S.6
-
32
-
-
35848956125
-
Domain 5 of the cation-independent mannose 6-phosphate receptor preferentially binds phosphodiesters (mannose 6-phosphate N-acetylglucosamine ester)
-
Chavez C.A., Bohnsack R.N., Kudo M., Gotschall R.R., Canfield W.M., Dahms N.M. Domain 5 of the cation-independent mannose 6-phosphate receptor preferentially binds phosphodiesters (mannose 6-phosphate N-acetylglucosamine ester). Biochemistry 2007, 46:12604-12617.
-
(2007)
Biochemistry
, vol.46
, pp. 12604-12617
-
-
Chavez, C.A.1
Bohnsack, R.N.2
Kudo, M.3
Gotschall, R.R.4
Canfield, W.M.5
Dahms, N.M.6
-
33
-
-
70350094393
-
Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity
-
Boonen M., Vogel P., Platt K.A., Dahms N., Kornfeld S. Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity. Mol. Biol. Cell 2009, 20:4381-4389.
-
(2009)
Mol. Biol. Cell
, vol.20
, pp. 4381-4389
-
-
Boonen, M.1
Vogel, P.2
Platt, K.A.3
Dahms, N.4
Kornfeld, S.5
-
34
-
-
77955444897
-
Structural basis for recognition of phosphodiester-containing lysosomal enzymes by the cation-independent mannose 6-phosphate receptor
-
Olson L.J., Peterson F.C., Castonguay A., Bohnsack R.N., Kudo M., Gotschall R.R., Canfield W.M., Volkman B.F., Dahms N.M. Structural basis for recognition of phosphodiester-containing lysosomal enzymes by the cation-independent mannose 6-phosphate receptor. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:12493-12498.
-
(2010)
Proc. Natl. Acad. Sci. U. S. A.
, vol.107
, pp. 12493-12498
-
-
Olson, L.J.1
Peterson, F.C.2
Castonguay, A.3
Bohnsack, R.N.4
Kudo, M.5
Gotschall, R.R.6
Canfield, W.M.7
Volkman, B.F.8
Dahms, N.M.9
-
36
-
-
0003880161
-
-
(New York)
-
Alberts B., Johnson A., Lewis J., Raff M., Roberts K., Walter P. Molecular Biology of the Cell 2002, (New York). 4th ed.
-
(2002)
Molecular Biology of the Cell
-
-
Alberts, B.1
Johnson, A.2
Lewis, J.3
Raff, M.4
Roberts, K.5
Walter, P.6
-
37
-
-
39749200034
-
Imaging and imagination: understanding the endo-lysosomal system
-
van Meel E., Klumperman J. Imaging and imagination: understanding the endo-lysosomal system. Histochem. Cell Biol. 2008, 129(3):253-266.
-
(2008)
Histochem. Cell Biol.
, vol.129
, Issue.3
, pp. 253-266
-
-
van Meel, E.1
Klumperman, J.2
-
38
-
-
0026637316
-
Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors
-
Kornfeld S. Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors. Annu. Rev. Biochem. 1992, 61:307-330.
-
(1992)
Annu. Rev. Biochem.
, vol.61
, pp. 307-330
-
-
Kornfeld, S.1
-
39
-
-
0028905657
-
Roles for mannose-6-phosphate receptors in lysosomal enzyme sorting, IGF-II binding and clathrin-coat assembly
-
Ludwig T., Le Borgne R., Hoflack B. Roles for mannose-6-phosphate receptors in lysosomal enzyme sorting, IGF-II binding and clathrin-coat assembly. Trends Cell Biol. 1995, 5:202-206.
-
(1995)
Trends Cell Biol.
, vol.5
, pp. 202-206
-
-
Ludwig, T.1
Le Borgne, R.2
Hoflack, B.3
-
41
-
-
0023840372
-
Cloning and sequence analysis of the cation-independent mannose 6-phosphate receptor
-
Lobel P., Dahms N.M., Kornfeld S. Cloning and sequence analysis of the cation-independent mannose 6-phosphate receptor. J. Biol. Chem. 1988, 263:2563-2570.
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 2563-2570
-
-
Lobel, P.1
Dahms, N.M.2
Kornfeld, S.3
-
42
-
-
0023856926
-
The human cation-independent mannose 6-phosphate receptor. Cloning and sequence of the full-length cDNA and expression of functional receptor in COS cells
-
Oshima A., Nolan C.M., Kyle J.W., Grubb J.H., Sly W.S. The human cation-independent mannose 6-phosphate receptor. Cloning and sequence of the full-length cDNA and expression of functional receptor in COS cells. J. Biol. Chem. 1988, 263:2553-2562.
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 2553-2562
-
-
Oshima, A.1
Nolan, C.M.2
Kyle, J.W.3
Grubb, J.H.4
Sly, W.S.5
-
43
-
-
0026352780
-
The bovine mannose 6-phosphate/insulin-like growth factor II receptor. Localization of mannose 6-phosphate binding sites to domains 1-3 and 7-11 of the extracytoplasmic region
-
Westlund B., Dahms N.M., Kornfeld S. The bovine mannose 6-phosphate/insulin-like growth factor II receptor. Localization of mannose 6-phosphate binding sites to domains 1-3 and 7-11 of the extracytoplasmic region. J. Biol. Chem. 1991, 266:23233-23239.
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 23233-23239
-
-
Westlund, B.1
Dahms, N.M.2
Kornfeld, S.3
-
44
-
-
0027471426
-
The bovine mannose 6-phosphate/insulin-like growth factor II receptor. The role of arginine residues in mannose 6-phosphate binding
-
Dahms N.M., Rose P.A., Molkentin J.D., Zhang Y., Brzycki M.A. The bovine mannose 6-phosphate/insulin-like growth factor II receptor. The role of arginine residues in mannose 6-phosphate binding. J. Biol. Chem. 1993, 268:5457-5463.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 5457-5463
-
-
Dahms, N.M.1
Rose, P.A.2
Molkentin, J.D.3
Zhang, Y.4
Brzycki, M.A.5
-
45
-
-
0028101930
-
The bovine mannose 6-phosphate/insulin-like growth factor II receptor. Localization of the insulin-like growth factor II binding site to domains 5-11
-
Dahms N.M., Wick D.A., Brzycki-Wessell M.A. The bovine mannose 6-phosphate/insulin-like growth factor II receptor. Localization of the insulin-like growth factor II binding site to domains 5-11. J. Biol. Chem. 1994, 269:3802-3809.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 3802-3809
-
-
Dahms, N.M.1
Wick, D.A.2
Brzycki-Wessell, M.A.3
-
46
-
-
0034056050
-
Recognition of Dictyostelium discoideum lysosomal enzymes is conferred by the amino-terminal carbohydrate binding site of the insulin-like growth factor II/mannose 6-phosphate receptor
-
Marron-Terada P.G., Hancock M.K., Haskins D.J., Dahms N.M. Recognition of Dictyostelium discoideum lysosomal enzymes is conferred by the amino-terminal carbohydrate binding site of the insulin-like growth factor II/mannose 6-phosphate receptor. Biochemistry 2000, 39:2243-2253.
-
(2000)
Biochemistry
, vol.39
, pp. 2243-2253
-
-
Marron-Terada, P.G.1
Hancock, M.K.2
Haskins, D.J.3
Dahms, N.M.4
-
47
-
-
0037033019
-
Localization of the carbohydrate recognition sites of the insulin-like growth factor II/mannose 6-phosphate receptor to domains 3 and 9 of the extracytoplasmic region
-
Hancock M.K., Yammani R.D., Dahms N.M. Localization of the carbohydrate recognition sites of the insulin-like growth factor II/mannose 6-phosphate receptor to domains 3 and 9 of the extracytoplasmic region. J. Biol. Chem. 2002, 277:47205-47212.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 47205-47212
-
-
Hancock, M.K.1
Yammani, R.D.2
Dahms, N.M.3
-
48
-
-
0023658301
-
46 kd mannose 6-phosphate receptor: cloning, expression, and homology to the 215 kd mannose 6-phosphate receptor
-
Dahms N.M., Lobel P., Breitmeyer J., Chirgwin J.M., Kornfeld S. 46 kd mannose 6-phosphate receptor: cloning, expression, and homology to the 215 kd mannose 6-phosphate receptor. Cell 1987, 50:181-192.
-
(1987)
Cell
, vol.50
, pp. 181-192
-
-
Dahms, N.M.1
Lobel, P.2
Breitmeyer, J.3
Chirgwin, J.M.4
Kornfeld, S.5
-
49
-
-
0024333810
-
Ligand interactions of the cation-dependent mannose 6-phosphate receptor. Comparison with the cation-independent mannose 6-phosphate receptor
-
Tong P.Y., Kornfeld S. Ligand interactions of the cation-dependent mannose 6-phosphate receptor. Comparison with the cation-independent mannose 6-phosphate receptor. J. Biol. Chem. 1989, 264:7970-7975.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 7970-7975
-
-
Tong, P.Y.1
Kornfeld, S.2
-
50
-
-
0024356196
-
The cation-dependent mannose 6-phosphate receptor. Structural requirements for mannose 6-phosphate binding and oligomerization
-
Dahms N.M., Kornfeld S. The cation-dependent mannose 6-phosphate receptor. Structural requirements for mannose 6-phosphate binding and oligomerization. J. Biol. Chem. 1989, 264:11458-11467.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 11458-11467
-
-
Dahms, N.M.1
Kornfeld, S.2
-
51
-
-
0025187789
-
Rapid equilibrium between monomeric, dimeric and tetrameric forms of the 46-kDa mannose 6-phosphate receptor at 37 degrees C. Possible relation to the function of the receptor
-
Waheed A., von Figura K. Rapid equilibrium between monomeric, dimeric and tetrameric forms of the 46-kDa mannose 6-phosphate receptor at 37 degrees C. Possible relation to the function of the receptor. Eur. J. Biochem. 1990, 193:47-54.
-
(1990)
Eur. J. Biochem.
, vol.193
, pp. 47-54
-
-
Waheed, A.1
von Figura, K.2
-
52
-
-
0027330919
-
Targeted disruption of the M(r) 46,000 mannose 6-phosphate receptor gene in mice results in misrouting of lysosomal proteins
-
Köster A., Saftig P., Matzner U., von Figura K., Peters C., Pohlmann R. Targeted disruption of the M(r) 46,000 mannose 6-phosphate receptor gene in mice results in misrouting of lysosomal proteins. EMBO J. 1993, 12:5219-5223.
-
(1993)
EMBO J.
, vol.12
, pp. 5219-5223
-
-
Köster, A.1
Saftig, P.2
Matzner, U.3
von Figura, K.4
Peters, C.5
Pohlmann, R.6
-
53
-
-
0027379702
-
Targeted disruption of the mouse cation-dependent mannose 6-phosphate receptor results in partial missorting of multiple lysosomal enzyme
-
Ludwig T., Ovitt C.E., Bauer U., Hollinshead M., Remmler J., Lobel P., Rüther U., Hoflack B. Targeted disruption of the mouse cation-dependent mannose 6-phosphate receptor results in partial missorting of multiple lysosomal enzyme. EMBO J. 1993, 12:5225-5235.
-
(1993)
EMBO J.
, vol.12
, pp. 5225-5235
-
-
Ludwig, T.1
Ovitt, C.E.2
Bauer, U.3
Hollinshead, M.4
Remmler, J.5
Lobel, P.6
Rüther, U.7
Hoflack, B.8
-
54
-
-
0032030786
-
Mouse mutants lacking the cation-independent mannose 6-phosphate/insulin-like growth factor II receptor are impaired in lysosomal enzyme transport: comparison of cation-independent and cation-dependent mannose 6-phosphate receptor-deficient mice
-
Sohar I., Sleat D., Gong Liu C., Ludwig T., Lobel P. Mouse mutants lacking the cation-independent mannose 6-phosphate/insulin-like growth factor II receptor are impaired in lysosomal enzyme transport: comparison of cation-independent and cation-dependent mannose 6-phosphate receptor-deficient mice. Biochem. J. 1998, 330:903-908.
-
(1998)
Biochem. J.
, vol.330
, pp. 903-908
-
-
Sohar, I.1
Sleat, D.2
Gong Liu, C.3
Ludwig, T.4
Lobel, P.5
-
55
-
-
0029883027
-
Re-expression of the mannose 6-phosphate receptors in receptor-deficient fibroblasts. Complementary function of the two mannose 6-phosphate receptors in lysosomal enzyme targeting
-
Munier-Lehmann H., Mauxion F., Bauer U., Lobel P., Hoflack B. Re-expression of the mannose 6-phosphate receptors in receptor-deficient fibroblasts. Complementary function of the two mannose 6-phosphate receptors in lysosomal enzyme targeting. J. Biol. Chem. 1996, 271:15166-15174.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 15166-15174
-
-
Munier-Lehmann, H.1
Mauxion, F.2
Bauer, U.3
Lobel, P.4
Hoflack, B.5
-
56
-
-
0027932822
-
Differential sorting of lysosomal enzymes in mannose 6-phosphate receptor-deficient fibroblasts
-
Ludwig T., Munier-Lehmann H., Bauer U., Hollinshead M., Ovitt C., Lobel P., Hoflack B. Differential sorting of lysosomal enzymes in mannose 6-phosphate receptor-deficient fibroblasts. EMBO J. 1994, 13:3430-3437.
-
(1994)
EMBO J.
, vol.13
, pp. 3430-3437
-
-
Ludwig, T.1
Munier-Lehmann, H.2
Bauer, U.3
Hollinshead, M.4
Ovitt, C.5
Lobel, P.6
Hoflack, B.7
-
57
-
-
78649742242
-
Treatments for lysosomal storage disorders
-
Lachmann R. Treatments for lysosomal storage disorders. Biochem. Soc. Trans. 2010, 38:1465-1468.
-
(2010)
Biochem. Soc. Trans.
, vol.38
, pp. 1465-1468
-
-
Lachmann, R.1
-
59
-
-
0014716309
-
The genetic mucolipidoses. Diagnosis and differential diagnosis
-
Spranger J.W., Wiedemann H.R. The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik 1970, 9:113-139.
-
(1970)
Humangenetik
, vol.9
, pp. 113-139
-
-
Spranger, J.W.1
Wiedemann, H.R.2
-
60
-
-
0031058719
-
Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family
-
Umehara F., Matsumoto W., Kuriyama M., Sukegawa K., Gasa S., Osame M. Mucolipidosis III (pseudo-Hurler polydystrophy); clinical studies in aged patients in one family. J. Neurol. Sci. 1997, 146:167-172.
-
(1997)
J. Neurol. Sci.
, vol.146
, pp. 167-172
-
-
Umehara, F.1
Matsumoto, W.2
Kuriyama, M.3
Sukegawa, K.4
Gasa, S.5
Osame, M.6
-
62
-
-
73649118123
-
Mannose phosphorylation in health and disease
-
Kollmann K., Pohl S., Marschner K., Encarnação M., Sakwa I., Tiede S., Poorthuis B.J., Lübke T., Müller-Loennies S., Storch S., Braulke T. Mannose phosphorylation in health and disease. Eur. J. Cell Biol. 2010, 89(1):117-123.
-
(2010)
Eur. J. Cell Biol.
, vol.89
, Issue.1
, pp. 117-123
-
-
Kollmann, K.1
Pohl, S.2
Marschner, K.3
Encarnação, M.4
Sakwa, I.5
Tiede, S.6
Poorthuis, B.J.7
Lübke, T.8
Müller-Loennies, S.9
Storch, S.10
Braulke, T.11
-
63
-
-
38049066748
-
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II
-
Tappino B., Regis S., Corsolini F., Filocamo M. An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II. Mol. Genet. Metab. 2008, 93:129-133.
-
(2008)
Mol. Genet. Metab.
, vol.93
, pp. 129-133
-
-
Tappino, B.1
Regis, S.2
Corsolini, F.3
Filocamo, M.4
-
64
-
-
63149172776
-
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
-
Otomo T., Muramatsu T., Yorifuji T., Okuyama T., Nakabayashi H., Fukao T., Ohura T., Yoshino M., Tanaka A., Okamoto N., Inui K., Ozono K., Sakai N. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J. Hum. Genet. 2009, 54:145-151.
-
(2009)
J. Hum. Genet.
, vol.54
, pp. 145-151
-
-
Otomo, T.1
Muramatsu, T.2
Yorifuji, T.3
Okuyama, T.4
Nakabayashi, H.5
Fukao, T.6
Ohura, T.7
Yoshino, M.8
Tanaka, A.9
Okamoto, N.10
Inui, K.11
Ozono, K.12
Sakai, N.13
-
65
-
-
84858706159
-
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient
-
(in press)
-
Coutinho F., Silva Santos L., Lacerda L., Quental S., Wibrand F., Lund A.M., Johansen K.B., Prata M.J., Alves S. Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient. J. Inherit. Metab. Dis. (in press).
-
J. Inherit. Metab. Dis.
-
-
Coutinho, F.1
Silva Santos, L.2
Lacerda, L.3
Quental, S.4
Wibrand, F.5
Lund, A.M.6
Johansen, K.B.7
Prata, M.J.8
Alves, S.9
-
66
-
-
33746535432
-
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients
-
Bargal R., Zeigler M., Abu-Libdeh B., Zuri V., Mandel H., Ben Neriah Z., Stewart F., Elcioglu N., Hindi T., Le Merrer M., Bach G., Raas-Rothschild A. When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. Mol. Genet. Metab. 2006, 88:359-363.
-
(2006)
Mol. Genet. Metab.
, vol.88
, pp. 359-363
-
-
Bargal, R.1
Zeigler, M.2
Abu-Libdeh, B.3
Zuri, V.4
Mandel, H.5
Ben Neriah, Z.6
Stewart, F.7
Elcioglu, N.8
Hindi, T.9
Le Merrer, M.10
Bach, G.11
Raas-Rothschild, A.12
-
67
-
-
70350705967
-
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients
-
Tappino B., Chuzhanova N.A., Regis S., Dardis A., Corsolini F., Stroppiano M., Tonoli E., Beccari T., Rosano C., Mucha J., Blanco M., Szlago M., Di Rocco M., Cooper D.N., Filocamo M. Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. Hum. Mutat. 2009, 30:E956-E973.
-
(2009)
Hum. Mutat.
, vol.30
-
-
Tappino, B.1
Chuzhanova, N.A.2
Regis, S.3
Dardis, A.4
Corsolini, F.5
Stroppiano, M.6
Tonoli, E.7
Beccari, T.8
Rosano, C.9
Mucha, J.10
Blanco, M.11
Szlago, M.12
Di Rocco, M.13
Cooper, D.N.14
Filocamo, M.15
-
68
-
-
67650875936
-
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations
-
Encarnação M., Lacerda L., Costa R., Prata M.J., Coutinho M.F., Ribeiro H., Lopes L., Pineda M., Ignatius J., Galvez H., Mustonen A., Vieira P., Lima M.R., Alves S. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. Clin. Genet. 2009, 76:76-84.
-
(2009)
Clin. Genet.
, vol.76
, pp. 76-84
-
-
Encarnação, M.1
Lacerda, L.2
Costa, R.3
Prata, M.J.4
Coutinho, M.F.5
Ribeiro, H.6
Lopes, L.7
Pineda, M.8
Ignatius, J.9
Galvez, H.10
Mustonen, A.11
Vieira, P.12
Lima, M.R.13
Alves, S.14
-
69
-
-
33344471661
-
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta-subunits precursor gene
-
Kudo M., Brem M.S., Canfield W.M. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta-subunits precursor gene. Am. J. Hum. Genet. 2006, 78:451-463.
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 451-463
-
-
Kudo, M.1
Brem, M.S.2
Canfield, W.M.3
-
70
-
-
38949202275
-
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population
-
Plante M., Claveau S., Lepage P., Lavoie E.M., Brunet S., Roquis D., Morin C., Vézina H., Laprise C. Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. Clin. Genet. 2008, 73:236-244.
-
(2008)
Clin. Genet.
, vol.73
, pp. 236-244
-
-
Plante, M.1
Claveau, S.2
Lepage, P.3
Lavoie, E.M.4
Brunet, S.5
Roquis, D.6
Morin, C.7
Vézina, H.8
Laprise, C.9
-
71
-
-
79961115962
-
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity
-
Coutinho M., Encarnação M., Gomes R., Da Silva Santos L., Martins S., Sirois-Gagnon D., Bargal R., Filocamo M., Raas-Rothschild A., Tappino B., Laprise C., Cury G., Schwartz I., Artigalás O., Prata M., Alves S. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Clin. Genet. 2010, 273-280.
-
(2010)
Clin. Genet.
, pp. 273-280
-
-
Coutinho, M.1
Encarnação, M.2
Gomes, R.3
Da Silva Santos, L.4
Martins, S.5
Sirois-Gagnon, D.6
Bargal, R.7
Filocamo, M.8
Raas-Rothschild, A.9
Tappino, B.10
Laprise, C.11
Cury, G.12
Schwartz, I.13
Artigalás, O.14
Prata, M.15
Alves, S.16
-
72
-
-
0347417907
-
Results of a genome-wide linkage scan for stuttering
-
Shugart Y.Y., Mundorff J., Kilshaw J., Doheny K., Doan B., Wanyee J., Green E.D., Drayna D. Results of a genome-wide linkage scan for stuttering. Am. J. Med. Genet. A 2004, 124A:133-135.
-
(2004)
Am. J. Med. Genet. A
, vol.124 A
, pp. 133-135
-
-
Shugart, Y.Y.1
Mundorff, J.2
Kilshaw, J.3
Doheny, K.4
Doan, B.5
Wanyee, J.6
Green, E.D.7
Drayna, D.8
-
73
-
-
15944384953
-
Genomewide significant linkage to stuttering on chromosome 12
-
Riaz N., Steinberg S., Ahmad J., Pluzhnikov A., Riazuddin S., Cox N.J., Drayna D. Genomewide significant linkage to stuttering on chromosome 12. Am. J. Hum. Genet. 2005, 76:647-651.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 647-651
-
-
Riaz, N.1
Steinberg, S.2
Ahmad, J.3
Pluzhnikov, A.4
Riazuddin, S.5
Cox, N.J.6
Drayna, D.7
-
74
-
-
33645461964
-
New complexities in the genetics of stuttering: significant sex-specific linkage signals
-
Suresh R., Ambrose N., Roe C., Pluzhnikov A., Wittke-Thompson J.K., Ng M.C., Wu X., Cook E.H., Lundstrom C., Garsten M., Ezrati R., Yairi E., Cox N.J. New complexities in the genetics of stuttering: significant sex-specific linkage signals. Am. J. Hum. Genet. 2006, 78:554-563.
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 554-563
-
-
Suresh, R.1
Ambrose, N.2
Roe, C.3
Pluzhnikov, A.4
Wittke-Thompson, J.K.5
Ng, M.C.6
Wu, X.7
Cook, E.H.8
Lundstrom, C.9
Garsten, M.10
Ezrati, R.11
Yairi, E.12
Cox, N.J.13
-
75
-
-
33847171884
-
Genetic studies of stuttering in a founder population
-
Wittke-Thompson J.K., Ambrose N., Yairi E., Roe C., Cook E.H., Ober C., Cox N.J. Genetic studies of stuttering in a founder population. J. Fluency Disord. 2007, 32:33-50.
-
(2007)
J. Fluency Disord.
, vol.32
, pp. 33-50
-
-
Wittke-Thompson, J.K.1
Ambrose, N.2
Yairi, E.3
Roe, C.4
Cook, E.H.5
Ober, C.6
Cox, N.J.7
-
76
-
-
77349117333
-
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering
-
Kang C., Riazuddin S., Mundorff J., Krasnewich D., Friedman P., Mullikin J.C., Drayna D. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N. Engl. J. Med. 2010, 362:677-685.
-
(2010)
N. Engl. J. Med.
, vol.362
, pp. 677-685
-
-
Kang, C.1
Riazuddin, S.2
Mundorff, J.3
Krasnewich, D.4
Friedman, P.5
Mullikin, J.C.6
Drayna, D.7
-
77
-
-
81155132229
-
Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering
-
Lee W.S., Kang C., Drayna D., Kornfeld S. Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering. J. Biol. Chem. 2011, 286:39786-39793.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 39786-39793
-
-
Lee, W.S.1
Kang, C.2
Drayna, D.3
Kornfeld, S.4
-
78
-
-
58249095966
-
Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells
-
Klein D., Yaghootfam A., Matzner U., Koch B., Braulke T., Gieselmann V. Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells. Biol. Chem. 2009, 390:41-48.
-
(2009)
Biol. Chem.
, vol.390
, pp. 41-48
-
-
Klein, D.1
Yaghootfam, A.2
Matzner, U.3
Koch, B.4
Braulke, T.5
Gieselmann, V.6
-
79
-
-
78649508777
-
Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease
-
Sun B., Li S., Bird A., Yi H., Kemper A., Thurberg B.L., Koeberl D.D. Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease. J. Gene Med. 2010, 12:881-891.
-
(2010)
J. Gene Med.
, vol.12
, pp. 881-891
-
-
Sun, B.1
Li, S.2
Bird, A.3
Yi, H.4
Kemper, A.5
Thurberg, B.L.6
Koeberl, D.D.7
-
80
-
-
36048935960
-
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase
-
Reczek D., Schwake M., Schröder J., Hughes H., Blanz J., Jin X., Brondyk W., Van Patten S., Edmunds T., Saftig P. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 2007, 131:770-783.
-
(2007)
Cell
, vol.131
, pp. 770-783
-
-
Reczek, D.1
Schwake, M.2
Schröder, J.3
Hughes, H.4
Blanz, J.5
Jin, X.6
Brondyk, W.7
Van Patten, S.8
Edmunds, T.9
Saftig, P.10
-
81
-
-
46249129691
-
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome
-
Balreira A., Gaspar P., Caiola D., Chaves J., Beirão I., Lima J.L., Azevedo J.E., Miranda M.C. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum. Mol. Genet. 2008, 17:2238-2243.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2238-2243
-
-
Balreira, A.1
Gaspar, P.2
Caiola, D.3
Chaves, J.4
Beirão, I.5
Lima, J.L.6
Azevedo, J.E.7
Miranda, M.C.8
-
82
-
-
40849144062
-
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
-
Berkovic S.F., Dibbens L.M., Oshlack A., Silver J.D., Katerelos M., Vears D.F., Lüllmann-Rauch R., Blanz J., Zhang K.W., Stankovich J., Kalnins R.M., Dowling J.P., Andermann E., Andermann F., Faldini E., D'Hooge R., Vadlamudi L., Macdonell R.A., Hodgson B.L., Bayly M.A., Savige J., Mulley J.C., Smyth G.K., Power D.A., Saftig P., Bahlo M. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am. J. Hum. Genet. 2008, 82:673-684.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 673-684
-
-
Berkovic, S.F.1
Dibbens, L.M.2
Oshlack, A.3
Silver, J.D.4
Katerelos, M.5
Vears, D.F.6
Lüllmann-Rauch, R.7
Blanz, J.8
Zhang, K.W.9
Stankovich, J.10
Kalnins, R.M.11
Dowling, J.P.12
Andermann, E.13
Andermann, F.14
Faldini, E.15
D'Hooge, R.16
Vadlamudi, L.17
Macdonell, R.A.18
Hodgson, B.L.19
Bayly, M.A.20
Savige, J.21
Mulley, J.C.22
Smyth, G.K.23
Power, D.A.24
Saftig, P.25
Bahlo, M.26
more..
-
83
-
-
14444281750
-
Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography
-
Petersen C.M., Nielsen M.S., Nykjaer A., Jacobsen L., Tommerup N., Rasmussen H.H., Roigaard H., Gliemann J., Madsen P., Moestrup S.K. Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography. J. Biol. Chem. 1997, 272:3599-3605.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 3599-3605
-
-
Petersen, C.M.1
Nielsen, M.S.2
Nykjaer, A.3
Jacobsen, L.4
Tommerup, N.5
Rasmussen, H.H.6
Roigaard, H.7
Gliemann, J.8
Madsen, P.9
Moestrup, S.K.10
-
84
-
-
15644381411
-
The 100-kDa neurotensin receptor is gp95/sortilin, a non-G-protein-coupled receptor
-
Mazella J., Zsürger N., Navarro V., Chabry J., Kaghad M., Caput D., Ferrara P., Vita N., Gully D., Maffrand J.P., Vincent J.P. The 100-kDa neurotensin receptor is gp95/sortilin, a non-G-protein-coupled receptor. J. Biol. Chem. 1998, 273:26273-26276.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 26273-26276
-
-
Mazella, J.1
Zsürger, N.2
Navarro, V.3
Chabry, J.4
Kaghad, M.5
Caput, D.6
Ferrara, P.7
Vita, N.8
Gully, D.9
Maffrand, J.P.10
Vincent, J.P.11
-
85
-
-
0033605593
-
Sortilin/neurotensin receptor-3 binds and mediates degradation of lipoprotein lipase
-
Nielsen M.S., Jacobsen C., Olivecrona G., Gliemann J., Petersen C.M. Sortilin/neurotensin receptor-3 binds and mediates degradation of lipoprotein lipase. J. Biol. Chem. 1999, 274:8832-8836.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 8832-8836
-
-
Nielsen, M.S.1
Jacobsen, C.2
Olivecrona, G.3
Gliemann, J.4
Petersen, C.M.5
-
86
-
-
0345732689
-
The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin
-
Lefrancois S., Zeng J., Hassan A.J., Canuel M., Morales C.R. The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin. EMBO J. 2003, 22:6430-6437.
-
(2003)
EMBO J.
, vol.22
, pp. 6430-6437
-
-
Lefrancois, S.1
Zeng, J.2
Hassan, A.J.3
Canuel, M.4
Morales, C.R.5
-
87
-
-
33745022321
-
The lysosomal trafficking of acid sphingomyelinase is mediated by sortilin and mannose 6-phosphate receptor
-
Ni X., Morales C.R. The lysosomal trafficking of acid sphingomyelinase is mediated by sortilin and mannose 6-phosphate receptor. Traffic 2006, 7:889-902.
-
(2006)
Traffic
, vol.7
, pp. 889-902
-
-
Ni, X.1
Morales, C.R.2
-
88
-
-
46049085788
-
Sortilin mediates the lysosomal targeting of cathepsins D and H
-
Canuel M., Korkidakis A., Konnyu K., et al. Sortilin mediates the lysosomal targeting of cathepsins D and H. Biochem. Biophys. Res. Commun. 2008, 373:292-297.
-
(2008)
Biochem. Biophys. Res. Commun.
, vol.373
, pp. 292-297
-
-
Canuel, M.1
Korkidakis, A.2
Konnyu, K.3
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