-
1
-
-
1042265181
-
Current state of clinical and morphological features in human NCL
-
Goebel HH, Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol 2004; 14: 61-69.
-
(2004)
Brain Pathol
, vol.14
, pp. 61-69
-
-
Goebel, H.H.1
Wisniewski, K.E.2
-
2
-
-
16944364280
-
Spectrum of mutations in the Batten disease gene, CLN3
-
Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PEM, de Vos N, Breuning MH, Gardiner RM, Mole SE. Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet 1997; 61: 310-316.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 310-316
-
-
Munroe, P.B.1
Mitchison, H.M.2
O'Rawe, A.M.3
Anderson, J.W.4
Boustany, R.M.5
Lerner, T.J.6
Taschner, P.E.M.7
de Vos, N.8
Breuning, M.H.9
Gardiner, R.M.10
Mole, S.E.11
-
3
-
-
0030577376
-
A model for Batten disease protein CLN3: Functional implications from homology and mutations
-
Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE, Wallace BA. A model for Batten disease protein CLN3: Functional implications from homology and mutations. FEBS Lett 1996; 399: 75-77.
-
(1996)
FEBS Lett
, vol.399
, pp. 75-77
-
-
Janes, R.W.1
Munroe, P.B.2
Mitchison, H.M.3
Gardiner, R.M.4
Mole, S.E.5
Wallace, B.A.6
-
4
-
-
1542313968
-
Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells
-
KyttäläA, Ihrke G, Vesa J, Schell MJ, Luzio JP. Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. Mol Biol Cell 2004; 15: 1313-1323.
-
(2004)
Mol Biol Cell
, vol.15
, pp. 1313-1323
-
-
Kyttälä, A.1
Ihrke, G.2
Vesa, J.3
Schell, M.J.4
Luzio, J.P.5
-
5
-
-
0037464472
-
Membrane topology of CLN3, the protein underlying Batten disease
-
Mao Q, Foster BJ, Xia H, Davidson BL. Membrane topology of CLN3, the protein underlying Batten disease. FEBS Lett 2003; 541: 40-46.
-
(2003)
FEBS Lett
, vol.541
, pp. 40-46
-
-
Mao, Q.1
Foster, B.J.2
Xia, H.3
Davidson, B.L.4
-
6
-
-
0344011621
-
Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein
-
Ezaki J, Takeda-Ezaki M, Koike M, Ohsawa Y, Taka H, Mineki R, Murayama K, Uchiyama Y, Ueno T, Kominami E. Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein. J Neurochem 2003; 87: 1296-1308.
-
(2003)
J Neurochem
, vol.87
, pp. 1296-1308
-
-
Ezaki, J.1
Takeda-Ezaki, M.2
Koike, M.3
Ohsawa, Y.4
Taka, H.5
Mineki, R.6
Murayama, K.7
Uchiyama, Y.8
Ueno, T.9
Kominami, E.10
-
7
-
-
0031985964
-
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
-
JärveläI, Sainio M, Rantamaki T, Olkkonen VM, Carpén O, Peltonen L, Jalanko A. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet 1998; 7: 85-90.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 85-90
-
-
Järvelä, I.1
Sainio, M.2
Rantamaki, T.3
Olkkonen, V.M.4
Carpén, O.5
Peltonen, L.6
Jalanko, A.7
-
8
-
-
0032905252
-
Action of BTN1, the yeast orthologue of the gene mutated in Batten disease
-
Pearce DA, Ferea T, Nosel SA, Das B, Sherman F. Action of BTN1, the yeast orthologue of the gene mutated in Batten disease. Nat Genet 1999; 22: 55-58.
-
(1999)
Nat Genet
, vol.22
, pp. 55-58
-
-
Pearce, D.A.1
Ferea, T.2
Nosel, S.A.3
Das, B.4
Sherman, F.5
-
9
-
-
0033864041
-
CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells
-
Golabek AA, Kida E, Walus M, Kaczmarski W, Michalewski M, Wisniewski KE. CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells. Mol Genet Metab 2000; 70: 203-213.
-
(2000)
Mol Genet Metab
, vol.70
, pp. 203-213
-
-
Golabek, A.A.1
Kida, E.2
Walus, M.3
Kaczmarski, W.4
Michalewski, M.5
Wisniewski, K.E.6
-
10
-
-
28744438595
-
Defective lysosomal arginine transport in juvenile Batten disease
-
Ramirez-Montealegre D, Pearce DA. Defective lysosomal arginine transport in juvenile Batten disease. Hum Mol Genet 2005; 14: 3759-3773.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3759-3773
-
-
Ramirez-Montealegre, D.1
Pearce, D.A.2
-
11
-
-
30544437316
-
Mole SE. btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis
-
Gachet Y, Codlin S, Hyams JS, Mole SE. btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. J Cell Sci 2005; 118: 5525-5536.
-
(2005)
J Cell Sci
, vol.118
, pp. 5525-5536
-
-
Gachet, Y.1
Codlin, S.2
Hyams, J.S.3
-
12
-
-
33744530432
-
Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole
-
Padilla-Lopez S, Pearce DA. Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole. J Biol Chem 2006; 281: 10273-10280.
-
(2006)
J Biol Chem
, vol.281
, pp. 10273-10280
-
-
Padilla-Lopez, S.1
Pearce, D.A.2
-
13
-
-
0038795645
-
Signals for sorting of transmembrane proteins to endosomes and lysosomes
-
Bonifacino JS, Traub LM. Signals for sorting of transmembrane proteins to endosomes and lysosomes. Annu Rev Biochem 2003; 72: 395-447.
-
(2003)
Annu Rev Biochem
, vol.72
, pp. 395-447
-
-
Bonifacino, J.S.1
Traub, L.M.2
-
14
-
-
11144231239
-
A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the Batten disease-related CLN3 protein are required for efficient lysosomal targeting
-
Storch S, Pohl S, Braulke T. A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the Batten disease-related CLN3 protein are required for efficient lysosomal targeting. J Biol Chem 2004; 279: 53625-53634.
-
(2004)
J Biol Chem
, vol.279
, pp. 53625-53634
-
-
Storch, S.1
Pohl, S.2
Braulke, T.3
-
15
-
-
15444378335
-
AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif
-
KyttäläA, Yliannala K, Schu P, Jalanko A, Luzio JP. AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif. J Biol Chem 2005; 280: 10277-10283.
-
(2005)
J Biol Chem
, vol.280
, pp. 10277-10283
-
-
Kyttälä, A.1
Yliannala, K.2
Schu, P.3
Jalanko, A.4
Luzio, J.P.5
-
16
-
-
9744254471
-
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway
-
Luiro K, Yliannala K, Ahtiainen L, Maunu H, Jarvela I, KyttäläA, Jalanko A. Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. Hum Mol Genet 2004; 13: 3017-3027.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 3017-3027
-
-
Luiro, K.1
Yliannala, K.2
Ahtiainen, L.3
Maunu, H.4
Jarvela, I.5
Kyttälä, A.6
Jalanko, A.7
-
17
-
-
0032545401
-
Evidence for phosphorylation of CLN3 protein associated with Batten disease
-
Michalewski MP, Kaczmarski W, Golabek AA, Kida E, Kaczmarski A, Wisniewski KE. Evidence for phosphorylation of CLN3 protein associated with Batten disease. Biochem Biophys Res Commun 1998; 253: 458-462.
-
(1998)
Biochem Biophys Res Commun
, vol.253
, pp. 458-462
-
-
Michalewski, M.P.1
Kaczmarski, W.2
Golabek, A.A.3
Kida, E.4
Kaczmarski, A.5
Wisniewski, K.E.6
-
18
-
-
0032807059
-
Analysis of intracellular distribution and trafficking of the CLN3 protein in fusion with the green fluorescent protein in vitro
-
Kida E, Kaczmarski W, Golabek AA, Michalewski M, Wisniewski KE. Analysis of intracellular distribution and trafficking of the CLN3 protein in fusion with the green fluorescent protein in vitro. Mol Genet Metab 1999; 66: 265-271.
-
(1999)
Mol Genet Metab
, vol.66
, pp. 265-271
-
-
Kida, E.1
Kaczmarski, W.2
Golabek, A.A.3
Michalewski, M.4
Wisniewski, K.E.5
-
19
-
-
0030786568
-
Farnesylation of Batten disease CLN3 protein
-
Pullarkat RK, Morris GN. Farnesylation of Batten disease CLN3 protein. Neuropediatrics 1997; 28: 42-44.
-
(1997)
Neuropediatrics
, vol.28
, pp. 42-44
-
-
Pullarkat, R.K.1
Morris, G.N.2
-
20
-
-
0020559445
-
Biosynthesis and transport of lysosomal enzymes in human monocytes and macrophages. Effects of ammonium chloride, zymosan and tunicamycin
-
Imort M, Zuhlsdorf M, Feige U, Hasilik A, von Figura K. Biosynthesis and transport of lysosomal enzymes in human monocytes and macrophages. Effects of ammonium chloride, zymosan and tunicamycin. Biochem J 1983; 214: 671-678.
-
(1983)
Biochem J
, vol.214
, pp. 671-678
-
-
Imort, M.1
Zuhlsdorf, M.2
Feige, U.3
Hasilik, A.4
von Figura, K.5
-
21
-
-
2542482500
-
Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A
-
Heine C, Koch B, Storch S, Kohlschütter A, Palmer DN, Braulke T. Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A. J Biol Chem 2004; 279: 22347-22352.
-
(2004)
J Biol Chem
, vol.279
, pp. 22347-22352
-
-
Heine, C.1
Koch, B.2
Storch, S.3
Kohlschütter, A.4
Palmer, D.N.5
Braulke, T.6
-
22
-
-
0029898894
-
Protein prenylation: Molecular mechanisms and functional consequences
-
Zhang FL, Casey PJ. Protein prenylation: Molecular mechanisms and functional consequences. Annu Rev Biochem 1996; 65: 241-269.
-
(1996)
Annu Rev Biochem
, vol.65
, pp. 241-269
-
-
Zhang, F.L.1
Casey, P.J.2
-
23
-
-
0035266246
-
The farnesyltransferase inhibitor L744,832 reduces hypoxia in tumors expressing activated H-ras
-
Cohen-Jonathan E, Evans SM, Koch CJ, Muschel RJ, McKenna WG, Wu J, Bernhard EJ. The farnesyltransferase inhibitor L744,832 reduces hypoxia in tumors expressing activated H-ras. Cancer Res 2001; 61: 2289-2293.
-
(2001)
Cancer Res
, vol.61
, pp. 2289-2293
-
-
Cohen-Jonathan, E.1
Evans, S.M.2
Koch, C.J.3
Muschel, R.J.4
McKenna, W.G.5
Wu, J.6
Bernhard, E.J.7
-
24
-
-
0024308993
-
Brefeldin A redistributes resident and itinerant Golgi proteins to the endoplasmic reticulum
-
Doms RW, Russ G, Yewdell JW. Brefeldin A redistributes resident and itinerant Golgi proteins to the endoplasmic reticulum. J Cell Biol 1989; 109: 61-72.
-
(1989)
J Cell Biol
, vol.109
, pp. 61-72
-
-
Doms, R.W.1
Russ, G.2
Yewdell, J.W.3
-
25
-
-
0029670902
-
The targeting of Lamp1 to lysosomes is dependent on the spacing of its cytoplasmic tail tyrosine sorting motif relative to the membrane
-
Rohrer J, Schweizer A, Russell D, Kornfeld S. The targeting of Lamp1 to lysosomes is dependent on the spacing of its cytoplasmic tail tyrosine sorting motif relative to the membrane. J Cell Biol 1996; 132: 565-576.
-
(1996)
J Cell Biol
, vol.132
, pp. 565-576
-
-
Rohrer, J.1
Schweizer, A.2
Russell, D.3
Kornfeld, S.4
-
26
-
-
0032509517
-
Stabilization of mutant 46-kDa mannose 6-phosphate receptors by proteasomal inhibitor lactacystin
-
Breuer P, Braulke T. Stabilization of mutant 46-kDa mannose 6-phosphate receptors by proteasomal inhibitor lactacystin. J Biol Chem 1998; 273: 33254-33258.
-
(1998)
J Biol Chem
, vol.273
, pp. 33254-33258
-
-
Breuer, P.1
Braulke, T.2
-
27
-
-
24344441296
-
Transport of lysosomal enzymes
-
P. Saftig Springer Science + Business Media New York
-
Storch S, Braulke T. Transport of lysosomal enzymes. In: Saftig P, editor. Lysosomes. New York: Springer Science + Business Media; 2005, pp. 17-26.
-
(2005)
Lysosomes
, pp. 17-26
-
-
Storch, S.1
Braulke, T.2
-
28
-
-
0037336295
-
Quality control in the endoplasmic reticulum
-
Ellgaard L, Helenius A. Quality control in the endoplasmic reticulum. Nat Rev Mol Cell Biol 2003; 4: 181-191.
-
(2003)
Nat Rev Mol Cell Biol
, vol.4
, pp. 181-191
-
-
Ellgaard, L.1
Helenius, A.2
-
29
-
-
33847040758
-
Topology and endoplasmic retention signals of the lysosomal storage disease-related membrane protein 6
-
Heine C, Quitsch A, Storch S, Lonka L, Lehesjoki AE, Mole SE, Braulke T. Topology and endoplasmic retention signals of the lysosomal storage disease-related membrane protein 6. Mol Membr Biol 2007; 24: 74-87.
-
(2007)
Mol Membr Biol
, vol.24
, pp. 74-87
-
-
Heine, C.1
Quitsch, A.2
Storch, S.3
Lonka, L.4
Lehesjoki, A.E.5
Mole, S.E.6
Braulke, T.7
-
30
-
-
33644969008
-
Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking
-
Arniges M, Fernandez-Fernandez JM, Albrecht N, Schaefer M, Valverde MA. Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking. J Biol Chem 2006; 281: 1580-1586.
-
(2006)
J Biol Chem
, vol.281
, pp. 1580-1586
-
-
Arniges, M.1
Fernandez-Fernandez, J.M.2
Albrecht, N.3
Schaefer, M.4
Valverde, M.A.5
-
31
-
-
33749823040
-
Oligomerization of KCC2 correlates with development of inhibitory neurotransmission
-
Blaesse P, Guillemin I, Schindler J, Schweizer M, Delpire E, Khiroug L, Friauf E, Nothwang HG. Oligomerization of KCC2 correlates with development of inhibitory neurotransmission. J Neurosci 2006; 26: 10407-10419.
-
(2006)
J Neurosci
, vol.26
, pp. 10407-10419
-
-
Blaesse, P.1
Guillemin, I.2
Schindler, J.3
Schweizer, M.4
Delpire, E.5
Khiroug, L.6
Friauf, E.7
Nothwang, H.G.8
-
32
-
-
0037462827
-
Oligomerization and trafficking of the human dopamine transporter. Mutational analysis identifies critical domains important for the functional expression of the transporter
-
Torres GE, Carneiro A, Seamans K, Fiorentini C, Sweeney A, Yao WD, Caron MG. Oligomerization and trafficking of the human dopamine transporter. Mutational analysis identifies critical domains important for the functional expression of the transporter. J Biol Chem 2003; 278: 2731-2739.
-
(2003)
J Biol Chem
, vol.278
, pp. 2731-2739
-
-
Torres, G.E.1
Carneiro, A.2
Seamans, K.3
Fiorentini, C.4
Sweeney, A.5
Yao, W.D.6
Caron, M.G.7
-
33
-
-
0026061739
-
Sequence requirement for peptide recognition by rat brain p21ras protein farnesyltransferase
-
Reiss Y, Stradley SJ, Gierasch LM, Brown MS, Goldstein JL. Sequence requirement for peptide recognition by rat brain p21ras protein farnesyltransferase. Proc Natl Acad Sci USA 1991; 88: 732-736.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 732-736
-
-
Reiss, Y.1
Stradley, S.J.2
Gierasch, L.M.3
Brown, M.S.4
Goldstein, J.L.5
-
34
-
-
0032798745
-
Studies of membrane association of CLN3 protein
-
Kaczmarski W, Wisniewski KE, Golabek A, Kaczmarski A, Kida E, Michalewski M. Studies of membrane association of CLN3 protein. Mol Genet Metab 1999; 66: 261-264.
-
(1999)
Mol Genet Metab
, vol.66
, pp. 261-264
-
-
Kaczmarski, W.1
Wisniewski, K.E.2
Golabek, A.3
Kaczmarski, A.4
Kida, E.5
Michalewski, M.6
-
35
-
-
0032530150
-
Endoplasmic reticulum membrane localization of Rce1p and Ste24p, yeast proteases involved in carboxyl-terminal CAAX protein processing and amino-terminal a-factor cleavage
-
Schmidt WK, Tam A, Fujimura-Kamada K, Michaelis S. Endoplasmic reticulum membrane localization of Rce1p and Ste24p, yeast proteases involved in carboxyl-terminal CAAX protein processing and amino-terminal a-factor cleavage. Proc Natl Acad Sci USA 1998; 95: 11175-11180.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 11175-11180
-
-
Schmidt, W.K.1
Tam, A.2
Fujimura-Kamada, K.3
Michaelis, S.4
-
36
-
-
0032511057
-
Mammalian prenylcysteine carboxyl methyltransferase is in the endoplasmic reticulum
-
Dai Q, Choy E, Chiu V, Romano J, Slivka SR, Steitz SA, Michaelis S, Philips MR. Mammalian prenylcysteine carboxyl methyltransferase is in the endoplasmic reticulum. J Biol Chem 1998; 273: 15030-15034.
-
(1998)
J Biol Chem
, vol.273
, pp. 15030-15034
-
-
Dai, Q.1
Choy, E.2
Chiu, V.3
Romano, J.4
Slivka, S.R.5
Steitz, S.A.6
Michaelis, S.7
Philips, M.R.8
-
37
-
-
24344449035
-
Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins
-
Janvier K, Bonifacino JS. Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins. Mol Biol Cell 2005; 16: 4231-4242.
-
(2005)
Mol Biol Cell
, vol.16
, pp. 4231-4242
-
-
Janvier, K.1
Bonifacino, J.S.2
-
38
-
-
33644655372
-
Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes
-
Vergarajauregui S, Puertollano R. Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes. Traffic 2006; 7: 337-353.
-
(2006)
Traffic
, vol.7
, pp. 337-353
-
-
Vergarajauregui, S.1
Puertollano, R.2
-
39
-
-
0036227313
-
Investigation of a functional requirement for isoprenylation by the human prostacyclin receptor
-
Miggin SM, Lawler OA, Kinsella BT. Investigation of a functional requirement for isoprenylation by the human prostacyclin receptor. Eur J Biochem 2002; 269: 1714-1725.
-
(2002)
Eur J Biochem
, vol.269
, pp. 1714-1725
-
-
Miggin, S.M.1
Lawler, O.A.2
Kinsella, B.T.3
-
40
-
-
0030856568
-
Proteolysis of insulin-like growth factors (IGF) and IGF binding proteins by cathepsin D
-
Claussen M, Kübler B, Wendland M, Neifer K, Schmidt B, Zapf J, Braulke T. Proteolysis of insulin-like growth factors (IGF) and IGF binding proteins by cathepsin D. Endocrinology 1997; 138: 3797-3803.
-
(1997)
Endocrinology
, vol.138
, pp. 3797-3803
-
-
Claussen, M.1
Kübler, B.2
Wendland, M.3
Neifer, K.4
Schmidt, B.5
Zapf, J.6
Braulke, T.7
-
41
-
-
12144249931
-
Postsynaptic shank antagonizes dendrite branching induced by the leucine-rich repeat protein Densin-180
-
Quitsch A, Berhorster K, Liew CW, Richter D, Kreienkamp HJ. Postsynaptic shank antagonizes dendrite branching induced by the leucine-rich repeat protein Densin-180. J Neurosci 2005; 25: 479-487.
-
(2005)
J Neurosci
, vol.25
, pp. 479-487
-
-
Quitsch, A.1
Berhorster, K.2
Liew, C.W.3
Richter, D.4
Kreienkamp, H.J.5
-
42
-
-
0033007616
-
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
-
Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell 1999; 3: 11-21.
-
(1999)
Mol Cell
, vol.3
, pp. 11-21
-
-
Dell'Angelica, E.C.1
Shotelersuk, V.2
Aguilar, R.C.3
Gahl, W.A.4
Bonifacino, J.S.5
-
43
-
-
0024430106
-
Regulation of the mannose 6-phosphate/IGF II receptor expression at the cell surface by mannose 6-phosphate, insulin like growth factors and epidermal growth factor
-
Braulke T, Tippmer S, Neher E, von Figura K. Regulation of the mannose 6-phosphate/IGF II receptor expression at the cell surface by mannose 6-phosphate, insulin like growth factors and epidermal growth factor. EMBO J 1989; 8: 681-686.
-
(1989)
EMBO J
, vol.8
, pp. 681-686
-
-
Braulke, T.1
Tippmer, S.2
Neher, E.3
von Figura, K.4
-
44
-
-
2642547512
-
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A
-
Muschol N, Storch S, Ballhausen D, Beesley C, Westermann JC, Gal A, Ullrich K, Hopwood JJ, Winchester B, Braulke T. Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. Hum Mutat 2004; 23: 559-566.
-
(2004)
Hum Mutat
, vol.23
, pp. 559-566
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Muschol, N.1
Storch, S.2
Ballhausen, D.3
Beesley, C.4
Westermann, J.C.5
Gal, A.6
Ullrich, K.7
Hopwood, J.J.8
Winchester, B.9
Braulke, T.10
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