-
1
-
-
84891768251
-
Aspartylglucosaminuria: Unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family
-
Opladen, T. et al. Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. J Child Neurol 29, 36-42 (2014).
-
(2014)
J Child Neurol
, vol.29
, pp. 36-42
-
-
Opladen, T.1
-
2
-
-
0035871210
-
Molecular pathogenesis of a disease: Structural consequences of aspartylglucosaminuria mutations
-
Saarela, J. et al. Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. Hum Mol Genet 10, 983-995 (2001).
-
(2001)
Hum Mol Genet
, vol.10
, pp. 983-995
-
-
Saarela, J.1
-
3
-
-
0026327411
-
Spectrum of mutations in aspartylglucosaminuria
-
Ikonen, E. et al. Spectrum of mutations in aspartylglucosaminuria. Proc Natl Acad Sci USA 88, 11222-11226 (1991).
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 11222-11226
-
-
Ikonen, E.1
-
4
-
-
0028964044
-
Intracellular sorting of aspartylglucosaminidase: The role of N-linked oligosaccharides and evidence of Man-6-P-independent lysosomal targeting
-
Tikkanen, R., Enomaa, N., Riikonen, A., Ikonen, E. & Peltonen, L. Intracellular sorting of aspartylglucosaminidase: the role of N-linked oligosaccharides and evidence of Man-6-P-independent lysosomal targeting. DNA Cell Biol 14, 305-312 (1995).
-
(1995)
DNA Cell Biol
, vol.14
, pp. 305-312
-
-
Tikkanen, R.1
Enomaa, N.2
Riikonen, A.3
Ikonen, E.4
Peltonen, L.5
-
5
-
-
0028786346
-
Three-dimensional structure of human lysosomal aspartylglucosaminidase
-
Oinonen, C., Tikkanen, R., Rouvinen, J. & Peltonen, L. Three-dimensional structure of human lysosomal aspartylglucosaminidase. Nat Struct Biol 2, 1102-1108 (1995).
-
(1995)
Nat Struct Biol
, vol.2
, pp. 1102-1108
-
-
Oinonen, C.1
Tikkanen, R.2
Rouvinen, J.3
Peltonen, L.4
-
6
-
-
0029936212
-
Functional analyses of active site residues of human lysosomal aspartylglucosaminidase: Implications for catalytic mechanism and autocatalytic activation
-
Tikkanen, R., Riikonen, A., Oinonen, C., Rouvinen, R. & Peltonen, L. Functional analyses of active site residues of human lysosomal aspartylglucosaminidase: implications for catalytic mechanism and autocatalytic activation. EMBO J 15, 2954-2960 (1996).
-
(1996)
EMBO J
, vol.15
, pp. 2954-2960
-
-
Tikkanen, R.1
Riikonen, A.2
Oinonen, C.3
Rouvinen, R.4
Peltonen, L.5
-
7
-
-
0032566667
-
Activation and oligomerization of aspartylglucosaminidase
-
Saarela, J. et al. Activation and oligomerization of aspartylglucosaminidase. J Biol Chem 273, 25320-25328 (1998).
-
(1998)
J Biol Chem
, vol.273
, pp. 25320-25328
-
-
Saarela, J.1
-
8
-
-
0026089364
-
Aspartylglucosaminuria: CDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease
-
Ikonen, E. et al. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J 10, 51-58 (1991).
-
(1991)
EMBO J
, vol.10
, pp. 51-58
-
-
Ikonen, E.1
-
9
-
-
0025790959
-
Aspartylglycosaminuria in the Finnish population: Identification of two point mutations in the heavy chain of glycoasparaginase
-
Mononen, I. et al. Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase. Proc Natl Acad Sci USA 88, 2941-2945 (1991).
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 2941-2945
-
-
Mononen, I.1
-
10
-
-
77957586806
-
Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice
-
Dunder, U., Valtonen, P., Kelo, E. & Mononen, I. Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice. J Inherit Metab Dis 33, 611-617 (2010).
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 611-617
-
-
Dunder, U.1
Valtonen, P.2
Kelo, E.3
Mononen, I.4
-
11
-
-
13444256574
-
Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy
-
Kelo, E., Dunder, U. & Mononen, I. Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy. Glycobiology 15, 79-85 (2005).
-
(2005)
Glycobiology
, vol.15
, pp. 79-85
-
-
Kelo, E.1
Dunder, U.2
Mononen, I.3
-
12
-
-
0031788218
-
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse
-
Peltola, M. et al. Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse. Gene Ther 5, 1314-1321 (1998).
-
(1998)
Gene Ther
, vol.5
, pp. 1314-1321
-
-
Peltola, M.1
-
13
-
-
33745281681
-
Use of nonviral promoters in adenovirus-mediated gene therapy: Reduction of lysosomal storage in the aspartylglucosaminuria mouse
-
Virta, S., Rapola, J., Jalanko, A. & Laine, M. Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse. J Gene Med 8, 699-706 (2006).
-
(2006)
J Gene Med
, vol.8
, pp. 699-706
-
-
Virta, S.1
Rapola, J.2
Jalanko, A.3
Laine, M.4
-
14
-
-
84876225140
-
Pharmacological chaperones as therapeutics for lysosomal storage diseases
-
Boyd, R. E. et al. Pharmacological chaperones as therapeutics for lysosomal storage diseases. J Med Chem 56, 2705-2725 (2013).
-
(2013)
J Med Chem
, vol.56
, pp. 2705-2725
-
-
Boyd, R.E.1
-
15
-
-
77449098166
-
Treating lysosomal storage diseases with pharmacological chaperones: From concept to clinics
-
Parenti, G. Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med 1, 268-279 (2009).
-
(2009)
EMBO Mol Med
, vol.1
, pp. 268-279
-
-
Parenti, G.1
-
16
-
-
84921324921
-
Lysosomal storage diseases: From pathophysiology to therapy
-
Parenti, G., Andria, G. & Ballabio, A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med 66, 471-486 (2015).
-
(2015)
Annu Rev Med
, vol.66
, pp. 471-486
-
-
Parenti, G.1
Andria, G.2
Ballabio, A.3
-
17
-
-
33846020543
-
Small molecule pharmacological chaperones: From thermodynamic stabilization to pharmaceutical drugs
-
Arakawa, T., Ejima, D., Kita, Y. & Tsumoto, K. Small molecule pharmacological chaperones: From thermodynamic stabilization to pharmaceutical drugs. Biochim Biophys Acta 1764, 1677-1687 (2006).
-
(2006)
Biochim Biophys Acta
, vol.1764
, pp. 1677-1687
-
-
Arakawa, T.1
Ejima, D.2
Kita, Y.3
Tsumoto, K.4
-
18
-
-
34748866532
-
Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors
-
Fan, J. Q. & Ishii, S. Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors. FEBS J 274, 4962-4971 (2007).
-
(2007)
FEBS J
, vol.274
, pp. 4962-4971
-
-
Fan, J.Q.1
Ishii, S.2
-
19
-
-
0025988646
-
In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation
-
Ikonen, E., Enomaa, N., Ulmanen, I. & Peltonen, L. In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation. Genomics 11, 206-211 (1991).
-
(1991)
Genomics
, vol.11
, pp. 206-211
-
-
Ikonen, E.1
Enomaa, N.2
Ulmanen, I.3
Peltonen, L.4
-
20
-
-
0029835573
-
Primary folding of aspartylglucosaminidase. Significance of disulfide bridges and evidence of early multimerization
-
Riikonen, A. et al. Primary folding of aspartylglucosaminidase. Significance of disulfide bridges and evidence of early multimerization. J Biol Chem 271, 21340-21344 (1996).
-
(1996)
J Biol Chem
, vol.271
, pp. 21340-21344
-
-
Riikonen, A.1
-
21
-
-
0030780140
-
Several cooperating binding sites mediate the interaction of a lysosomal enzyme with phosphotransferase
-
Tikkanen, R., Peltola, M., Oinonen, C., Rouvinen, J. & Peltonen, L. Several cooperating binding sites mediate the interaction of a lysosomal enzyme with phosphotransferase. EMBO J 16, 6684-6693 (1997).
-
(1997)
EMBO J
, vol.16
, pp. 6684-6693
-
-
Tikkanen, R.1
Peltola, M.2
Oinonen, C.3
Rouvinen, J.4
Peltonen, L.5
-
22
-
-
84905164552
-
Pharmacological chaperone therapy for lysosomal storage diseases
-
Parenti, G., Moracci, M., Fecarotta, S. & Andria, G. Pharmacological chaperone therapy for lysosomal storage diseases. Future Med Chem 6, 1031-1045 (2014).
-
(2014)
Future Med Chem
, vol.6
, pp. 1031-1045
-
-
Parenti, G.1
Moracci, M.2
Fecarotta, S.3
Andria, G.4
-
23
-
-
17044443537
-
Bone marrow transplantation in aspartylglucosaminuria-histopathological and MRI study
-
Autti, T. et al. Bone marrow transplantation in aspartylglucosaminuria-histopathological and MRI study. Neuropediatrics 30, 283-288 (1999).
-
(1999)
Neuropediatrics
, vol.30
, pp. 283-288
-
-
Autti, T.1
-
24
-
-
0030887772
-
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation
-
Laitinen, A. et al. Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. Clin Genet 51, 174-178 (1997).
-
(1997)
Clin Genet
, vol.51
, pp. 174-178
-
-
Laitinen, A.1
-
25
-
-
6844252256
-
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients
-
Jalanko, A. et al. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum Mol Genet 7, 265-272 (1998).
-
(1998)
Hum Mol Genet
, vol.7
, pp. 265-272
-
-
Jalanko, A.1
-
26
-
-
0029850423
-
A mouse model for the human lysosomal disease aspartylglycosaminuria
-
Kaartinen, V. et al. A mouse model for the human lysosomal disease aspartylglycosaminuria. Nat Med 2, 1375-1378 (1996).
-
(1996)
Nat Med
, vol.2
, pp. 1375-1378
-
-
Kaartinen, V.1
-
27
-
-
84875217250
-
Gene therapy and neurodevelopmental disorders
-
Gray, S. J. Gene therapy and neurodevelopmental disorders. Neuropharmacology 68, 136-142 (2013).
-
(2013)
Neuropharmacology
, vol.68
, pp. 136-142
-
-
Gray, S.J.1
-
28
-
-
0028086586
-
Dissection of the molecular consequences of a double mutation causing a human lysosomal disease
-
Riikonen, A. et al. Dissection of the molecular consequences of a double mutation causing a human lysosomal disease. DNA Cell Biol 13, 257-264 (1994).
-
(1994)
DNA Cell Biol
, vol.13
, pp. 257-264
-
-
Riikonen, A.1
-
29
-
-
84914154673
-
Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria
-
Sui, L., Lakshminarasimhan, D., Pande, S. & Guo, H. C. Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria. Structure 22, 1855-1861 (2014).
-
(2014)
Structure
, vol.22
, pp. 1855-1861
-
-
Sui, L.1
Lakshminarasimhan, D.2
Pande, S.3
Guo, H.C.4
-
30
-
-
0037474204
-
Two-step dimerization for autoproteolysis to activate glycosylasparaginase
-
Wang, Y. & Guo, H. C. Two-step dimerization for autoproteolysis to activate glycosylasparaginase. J Biol Chem 278, 3210-3219 (2003).
-
(2003)
J Biol Chem
, vol.278
, pp. 3210-3219
-
-
Wang, Y.1
Guo, H.C.2
-
31
-
-
0030051163
-
Activation of glycosylasparaginase. Formation of active N-terminal threonine by intramolecular autoproteolysis
-
Guan, C. et al. Activation of glycosylasparaginase. Formation of active N-terminal threonine by intramolecular autoproteolysis. J Biol Chem 271, 1732-1737 (1996).
-
(1996)
J Biol Chem
, vol.271
, pp. 1732-1737
-
-
Guan, C.1
-
32
-
-
0034844352
-
Glycosylasparaginase inhibition studies: Competitive inhibitors, transition state mimics, noncompetitive inhibitors
-
Risley, J. M., Huang, D. H., Kaylor, J. J., Malik, J. J. & Xia, Y. Q. Glycosylasparaginase inhibition studies: competitive inhibitors, transition state mimics, noncompetitive inhibitors. J Enzyme Inhib 16, 269-274 (2001).
-
(2001)
J Enzyme Inhib
, vol.16
, pp. 269-274
-
-
Risley, J.M.1
Huang, D.H.2
Kaylor, J.J.3
Malik, J.J.4
Xia, Y.Q.5
-
33
-
-
0033520327
-
Structural insights into the mechanism of intramolecular proteolysis
-
Xu, Q., Buckley, D., Guan, C. & Guo, H. C. Structural insights into the mechanism of intramolecular proteolysis. Cell 98, 651-661 (1999).
-
(1999)
Cell
, vol.98
, pp. 651-661
-
-
Xu, Q.1
Buckley, D.2
Guan, C.3
Guo, H.C.4
-
34
-
-
84876489098
-
Free glycine accelerates the autoproteolytic activation of human asparaginase
-
Su, Y. et al. Free glycine accelerates the autoproteolytic activation of human asparaginase. Chem Biol 20, 533-540 (2013).
-
(2013)
Chem Biol
, vol.20
, pp. 533-540
-
-
Su, Y.1
-
35
-
-
4544358286
-
Betaine in human nutrition
-
Craig, S. A. Betaine in human nutrition. Am J Clin Nutr 80, 539-549 (2004).
-
(2004)
Am J Clin Nutr
, vol.80
, pp. 539-549
-
-
Craig, S.A.1
-
36
-
-
77950409779
-
Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds
-
Zhang, R. et al. Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds. Proc Natl Acad Sci USA 107, 5569-5574 (2010).
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 5569-5574
-
-
Zhang, R.1
-
37
-
-
0038132253
-
Primary hyperoxaluria type 1 in the Canary Islands: A conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase
-
Santana, A., Salido, E., Torres, A. & Shapiro, L. J. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. Proc Natl Acad Sci USA 100, 7277-7282 (2003).
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 7277-7282
-
-
Santana, A.1
Salido, E.2
Torres, A.3
Shapiro, L.J.4
-
38
-
-
4644224470
-
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease
-
Schueler, U. H. et al. Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease. J Inherit Metab Dis 27, 649-658 (2004).
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 649-658
-
-
Schueler, U.H.1
-
39
-
-
84874310194
-
Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy
-
Mussche, S. et al. Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy. Hum Gene Ther 24, 209-219 (2013).
-
(2013)
Hum Gene Ther
, vol.24
, pp. 209-219
-
-
Mussche, S.1
-
40
-
-
0034252326
-
The dileucine motif within the tail of MPR46 is required for sorting of the receptor in endosomes
-
Tikkanen, R. et al. The dileucine motif within the tail of MPR46 is required for sorting of the receptor in endosomes. Traffic 1, 631-640 (2000).
-
(2000)
Traffic
, vol.1
, pp. 631-640
-
-
Tikkanen, R.1
-
41
-
-
0027381797
-
Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria
-
Voznyi Ya, V. et al. Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria. J Inherit Metab Dis 16, 929-934 (1993).
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 929-934
-
-
Voznyi Ya, V.1
|