-
1
-
-
0018222893
-
A new biochemical subtype of the Sanfilippo syndrome: characterization of the storage material in cultured fibroblasts of Sanfilippo C patients
-
Kresse H, Von Figura K, Klein U, (1978) A new biochemical subtype of the Sanfilippo syndrome: characterization of the storage material in cultured fibroblasts of Sanfilippo C patients. Euro J Biochem 92: 333-339.
-
(1978)
Euro J Biochem
, vol.92
, pp. 333-339
-
-
Kresse, H.1
von Figura, K.2
Klein, U.3
-
2
-
-
0000869162
-
The Mucopolysaccharides
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors, New York, McGraw-Hill,8 Ed
-
Neufeld EF, Muenzer J, (2001) The Mucopolysaccharides. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8 ed New York McGraw-Hill pp. 3421-3452.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
3
-
-
0018214687
-
Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts
-
Klein U, Kresse H, von Figura K, (1978) Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts. Proc Natl Acad Sci U S A 75: 5185-5189.
-
(1978)
Proc Natl Acad Sci U S A
, vol.75
, pp. 5185-5189
-
-
Klein, U.1
Kresse, H.2
von Figura, K.3
-
4
-
-
33749024739
-
Identification of the gene encoding the enzyme deficient in MPS IIIC (Sanfilippo type C)
-
Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, et al. (2006) Identification of the gene encoding the enzyme deficient in MPS IIIC (Sanfilippo type C). Am J Hum Genet 79: 738-744.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 738-744
-
-
Fan, X.1
Zhang, H.2
Zhang, S.3
Bagshaw, R.D.4
Tropak, M.B.5
-
5
-
-
33751117228
-
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
-
Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, et al. (2006) Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet 79: 807-819.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 807-819
-
-
Hrebicek, M.1
Mrazova, L.2
Seyrantepe, V.3
Durand, S.4
Roslin, N.M.5
-
6
-
-
77954116878
-
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
-
Fedele AO, Hopwood JJ, (2010) Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). Hum Mutat 31: E1574-1586.
-
(2010)
Hum Mutat
, vol.31
, pp. 1574-1586
-
-
Fedele, A.O.1
Hopwood, J.J.2
-
7
-
-
80052618375
-
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles
-
in press
-
Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, et al. (2010) Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clinical Genetics in press.
-
(2010)
Clinical Genetics
-
-
Canals, I.1
Elalaoui, S.C.2
Pineda, M.3
Delgadillo, V.4
Szlago, M.5
-
8
-
-
29344470512
-
An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC
-
Ausseil J, Landry K, Seyrantepe V, Trudel S, Mazur A, et al. (2006) An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC. Mol Genet Metab 87: 22-31.
-
(2006)
Mol Genet Metab
, vol.87
, pp. 22-31
-
-
Ausseil, J.1
Landry, K.2
Seyrantepe, V.3
Trudel, S.4
Mazur, A.5
-
9
-
-
0022195520
-
Acteyl Coenzyme A: alpha-Glucosaminide NAceyltransferase: Evidence for a transmembrane acetylation mechanism
-
Bame KJ, Rome LH, (1985) Acteyl Coenzyme A: alpha-Glucosaminide NAceyltransferase: Evidence for a transmembrane acetylation mechanism. J Biol Chem 260: 11293-11299.
-
(1985)
J Biol Chem
, vol.260
, pp. 11293-11299
-
-
Bame, K.J.1
Rome, L.H.2
-
10
-
-
34748843178
-
Lending a helping hand, screening chemical libraries for compounds that enhance ß-hexosaminidase A activity in GM2 Gangliosidosis cells
-
Tropak MB, Mahuran D, (2007) Lending a helping hand, screening chemical libraries for compounds that enhance ß-hexosaminidase A activity in GM2 Gangliosidosis cells. FEBS J 274: 4951-4961.
-
(2007)
FEBS J
, vol.274
, pp. 4951-4961
-
-
Tropak, M.B.1
Mahuran, D.2
-
11
-
-
0027161859
-
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)
-
Voznyi Ya V, Karpova EA, Dudukina TV, Tsvetkova IV, Boer AM, et al. (1993) A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C). J Inherit Metab Dis 16: 465-472.
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 465-472
-
-
Voznyi, Y.V.1
Karpova, E.A.2
Dudukina, T.V.3
Tsvetkova, I.V.4
Boer, A.M.5
-
12
-
-
0022468494
-
Genetic evidence for transmembrane acetylation by lysosomes
-
Bame KJ, Rome LH, (1986) Genetic evidence for transmembrane acetylation by lysosomes. Science 233: 1087-1089.
-
(1986)
Science
, vol.233
, pp. 1087-1089
-
-
Bame, K.J.1
Rome, L.H.2
-
13
-
-
77957794731
-
Analysis of the Biogenesis of Heparan Sulfate Acetyl-CoA: {alpha}-Glucosaminide N-Acetyltransferase Provides Insights into the Mechanism Underlying Its Complete Deficiency in Mucopolysaccharidosis IIIC
-
Durand S, Feldhammer M, Bonneil E, Thibault P, Pshezhetsky AV, (2010) Analysis of the Biogenesis of Heparan Sulfate Acetyl-CoA: {alpha}-Glucosaminide N-Acetyltransferase Provides Insights into the Mechanism Underlying Its Complete Deficiency in Mucopolysaccharidosis IIIC. J Biol Chem 285: 31233-31242.
-
(2010)
J Biol Chem
, vol.285
, pp. 31233-31242
-
-
Durand, S.1
Feldhammer, M.2
Bonneil, E.3
Thibault, P.4
Pshezhetsky, A.V.5
-
14
-
-
0028989710
-
Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation
-
Meikle PJ, Whittle AM, Hopwood JJ, (1995) Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation. Biochem J 308: 327-333.
-
(1995)
Biochem J
, vol.308
, pp. 327-333
-
-
Meikle, P.J.1
Whittle, A.M.2
Hopwood, J.J.3
-
15
-
-
60549094781
-
Detergent binding explains anomalous SDS-PAGE migration of membrane proteins
-
Rath A, Glibowicka M, Nadeau VG, Chen G, Deber CM, (2009) Detergent binding explains anomalous SDS-PAGE migration of membrane proteins. Proc Natl Acad Sci U S A 106: 1760-1765.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 1760-1765
-
-
Rath, A.1
Glibowicka, M.2
Nadeau, V.G.3
Chen, G.4
Deber, C.M.5
-
16
-
-
77949322837
-
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C
-
Feldhammer M, Durand S, Pshezhetsky AV, (2009) Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS One 4: e7434.
-
(2009)
PLoS One
, vol.4
-
-
Feldhammer, M.1
Durand, S.2
Pshezhetsky, A.V.3
-
17
-
-
0025924830
-
The human GM2 activator protein. A substrate specific cofactor of ß-hexosaminidase A
-
Meier EM, Schwarzmann G, Fürst W, Sandhoff K, (1991) The human GM2 activator protein. A substrate specific cofactor of ß-hexosaminidase A. J Biol Chem 266: 1879-1887.
-
(1991)
J Biol Chem
, vol.266
, pp. 1879-1887
-
-
Meier, E.M.1
Schwarzmann, G.2
Fürst, W.3
Sandhoff, K.4
-
18
-
-
77949886783
-
A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates
-
Tropak MB, Bukovac SW, Rigat BA, Yonekawa S, Wakarchuk W, et al. (2010) A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates. Glycobiology 20: 356-365.
-
(2010)
Glycobiology
, vol.20
, pp. 356-365
-
-
Tropak, M.B.1
Bukovac, S.W.2
Rigat, B.A.3
Yonekawa, S.4
Wakarchuk, W.5
-
19
-
-
0019151902
-
The subunit and polypeptide structure of hexosaminidase from human placenta
-
Mahuran DJ, Lowden JA, (1980) The subunit and polypeptide structure of hexosaminidase from human placenta. Can J Biochem 58: 287-294.
-
(1980)
Can J Biochem
, vol.58
, pp. 287-294
-
-
Mahuran, D.J.1
Lowden, J.A.2
-
20
-
-
0032409906
-
Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders
-
Diettrich O, Mills K, Johnson AW, Hasilik A, Winchester BG, (1998) Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders. FEBS Lett 441: 369-372.
-
(1998)
FEBS Lett
, vol.441
, pp. 369-372
-
-
Diettrich, O.1
Mills, K.2
Johnson, A.W.3
Hasilik, A.4
Winchester, B.G.5
-
21
-
-
69949119548
-
Identification and characterization of ambroxol as an enzyme-enhancement agent for gaucher disease
-
Maegawa GHB, Tropak MB, Buttner JD, Rigat BA, Fuller M, et al. (2009) Identification and characterization of ambroxol as an enzyme-enhancement agent for gaucher disease. J Biol Chem 284: 23502-23516.
-
(2009)
J Biol Chem
, vol.284
, pp. 23502-23516
-
-
Maegawa, G.H.B.1
Tropak, M.B.2
Buttner, J.D.3
Rigat, B.A.4
Fuller, M.5
-
22
-
-
43249114793
-
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
-
Martin DR, Rigat BA, Foureman P, Varadarajan GS, Hwang M, et al. (2008) Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab 94: 212-221.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 212-221
-
-
Martin, D.R.1
Rigat, B.A.2
Foureman, P.3
Varadarajan, G.S.4
Hwang, M.5
-
23
-
-
66349117008
-
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene
-
Feldhammer M, Durand S, Mrazova L, Boucher RM, Laframboise R, et al. (2009) Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. Hum Mutat 30: 918-925.
-
(2009)
Hum Mutat
, vol.30
, pp. 918-925
-
-
Feldhammer, M.1
Durand, S.2
Mrazova, L.3
Boucher, R.M.4
Laframboise, R.5
-
24
-
-
0028347851
-
Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay
-
He W, Voznyi Ya V, Huijmans JG, Geilen GC, Karpova EA, et al. (1994) Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay. Prenat Diagn 14: 17-22.
-
(1994)
Prenat Diagn
, vol.14
, pp. 17-22
-
-
He, W.1
Voznyi, Y.V.2
Huijmans, J.G.3
Geilen, G.C.4
Karpova, E.A.5
-
25
-
-
0037136040
-
Stability of the lactose permease in detergent solutions
-
Engel CK, Chen L, Prive GG, (2002) Stability of the lactose permease in detergent solutions. Biochim Biophys Acta 1564: 47-56.
-
(2002)
Biochim Biophys Acta
, vol.1564
, pp. 47-56
-
-
Engel, C.K.1
Chen, L.2
Prive, G.G.3
-
27
-
-
51649127777
-
The mannose 6-phosphate glycoprotein proteome
-
Sleat DE, Della Valle MC, Zheng H, Moore DF, Lobel P, (2008) The mannose 6-phosphate glycoprotein proteome. Journal of proteome research 7: 3010-3021.
-
(2008)
Journal of Proteome Research
, vol.7
, pp. 3010-3021
-
-
Sleat, D.E.1
Della Valle, M.C.2
Zheng, H.3
Moore, D.F.4
Lobel, P.5
-
28
-
-
73649118123
-
Mannose phosphorylation in health and disease
-
Kollmann K, Pohl S, Marschner K, Encarnacao M, Sakwa I, et al. (2010) Mannose phosphorylation in health and disease. Euro J Cell Biol 89: 117-123.
-
(2010)
Euro J Cell Biol
, vol.89
, pp. 117-123
-
-
Kollmann, K.1
Pohl, S.2
Marschner, K.3
Encarnacao, M.4
Sakwa, I.5
-
29
-
-
33847032037
-
High-throughput screening for novel human lysosomal beta-N-acetyl hexosaminidase inhibitors acting as pharmacological chaperones
-
Tropak MB, Blanchard J, Withers SG, Brown E, Mahuran D, (2006) High-throughput screening for novel human lysosomal beta-N-acetyl hexosaminidase inhibitors acting as pharmacological chaperones. Chem Biol 14: 153-164.
-
(2006)
Chem Biol
, vol.14
, pp. 153-164
-
-
Tropak, M.B.1
Blanchard, J.2
Withers, S.G.3
Brown, E.4
Mahuran, D.5
-
30
-
-
0018903866
-
Biosynthesis of lysosomal enzymes in fibroblasts: synthesis as precursors of higher molecular weight
-
Hasilik A, Neufeld EF, (1980) Biosynthesis of lysosomal enzymes in fibroblasts: synthesis as precursors of higher molecular weight. J Biol Chem 255: 4937-4945.
-
(1980)
J Biol Chem
, vol.255
, pp. 4937-4945
-
-
Hasilik, A.1
Neufeld, E.F.2
-
31
-
-
33846374117
-
Catalytic mechanism of a MYST family histone acetyltransferase
-
Berndsen CE, Albaugh BN, Tan S, Denu JM, (2007) Catalytic mechanism of a MYST family histone acetyltransferase. Biochemistry 46: 623-629.
-
(2007)
Biochemistry
, vol.46
, pp. 623-629
-
-
Berndsen, C.E.1
Albaugh, B.N.2
Tan, S.3
Denu, J.M.4
-
32
-
-
34250622878
-
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
-
Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lubke T, et al. (2007) Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Hum Mutat 28: 523.
-
(2007)
Hum Mutat
, vol.28
, pp. 523
-
-
Fedele, A.O.1
Filocamo, M.2
Di Rocco, M.3
Sersale, G.4
Lubke, T.5
-
33
-
-
74549200267
-
Role of the signal peptide in the synthesis and processing of the glucagon-like peptide-1 receptor
-
Huang Y, Wilkinson GF, Willars GB, (2010) Role of the signal peptide in the synthesis and processing of the glucagon-like peptide-1 receptor. Brit J Pharmaco 159: 237-251.
-
(2010)
Brit J Pharmaco
, vol.159
, pp. 237-251
-
-
Huang, Y.1
Wilkinson, G.F.2
Willars, G.B.3
-
34
-
-
0026584007
-
The early and late processing of lysosomal enzymes: proteolysis and compartmentation
-
Hasilik A, (1992) The early and late processing of lysosomal enzymes: proteolysis and compartmentation. Experientia 48: 130-151.
-
(1992)
Experientia
, vol.48
, pp. 130-151
-
-
Hasilik, A.1
-
35
-
-
0023929842
-
Proteolytic processing of the alpha chain of the lysosomal enzyme ß-hexosaminidase, in normal human fibroblasts
-
Little LE, Lau MML, Quon DVK, Fowler AV, Neufeld EF, (1988) Proteolytic processing of the alpha chain of the lysosomal enzyme ß-hexosaminidase, in normal human fibroblasts. J Biol Chem 263: 4288-4292.
-
(1988)
J Biol Chem
, vol.263
, pp. 4288-4292
-
-
Little, L.E.1
Lau, M.M.L.2
Quon, D.V.K.3
Fowler, A.V.4
Neufeld, E.F.5
-
36
-
-
0024550289
-
Proteolytic processing of the ß-subunit of the lysosomal enzyme, ß-hexosaminidase, in normal human fibroblasts
-
Quon DVK, Proia RL, Fowler AV, Bleibaum J, Neufeld EF, (1989) Proteolytic processing of the ß-subunit of the lysosomal enzyme, ß-hexosaminidase, in normal human fibroblasts. J Biol Chem 264: 3380-3384.
-
(1989)
J Biol Chem
, vol.264
, pp. 3380-3384
-
-
Quon, D.V.K.1
Proia, R.L.2
Fowler, A.V.3
Bleibaum, J.4
Neufeld, E.F.5
-
37
-
-
0025263882
-
Characterization of human placental ß-hexosaminidase I2: Proteolytic processing intermediates of hexosaminidase A
-
Mahuran DJ, (1991) Characterization of human placental ß-hexosaminidase I2: Proteolytic processing intermediates of hexosaminidase A. J Biol Chem 265: 6794-6799.
-
(1991)
J Biol Chem
, vol.265
, pp. 6794-6799
-
-
Mahuran, D.J.1
-
38
-
-
33744798282
-
Crystallographic Structure of Human beta-Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of G(M2) Ganglioside Hydrolysis
-
Lemieux MJ, Mark BL, Cherney MM, Withers SG, Mahuran DJ, et al. (2006) Crystallographic Structure of Human beta-Hexosaminidase A: Interpretation of Tay-Sachs Mutations and Loss of G(M2) Ganglioside Hydrolysis. J Mol Biol 359: 913-929.
-
(2006)
J Mol Biol
, vol.359
, pp. 913-929
-
-
Lemieux, M.J.1
Mark, B.L.2
Cherney, M.M.3
Withers, S.G.4
Mahuran, D.J.5
-
39
-
-
0344837327
-
Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease
-
Mark BL, Mahuran DJ, Cherney MM, Zhao D, Knapp S, et al. (2003) Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol 327: 1093-1109.
-
(2003)
J Mol Biol
, vol.327
, pp. 1093-1109
-
-
Mark, B.L.1
Mahuran, D.J.2
Cherney, M.M.3
Zhao, D.4
Knapp, S.5
-
40
-
-
0022552131
-
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes
-
Kozak M, (1986) Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44: 283-292.
-
(1986)
Cell
, vol.44
, pp. 283-292
-
-
Kozak, M.1
-
41
-
-
0038795645
-
Signals for sorting of transmembrane proteins to endosomes and lysosomes
-
Bonifacino JS, Traub LM, (2003) Signals for sorting of transmembrane proteins to endosomes and lysosomes. Annu Rev Biochem 72: 395-447.
-
(2003)
Annu Rev Biochem
, vol.72
, pp. 395-447
-
-
Bonifacino, J.S.1
Traub, L.M.2
|