-
1
-
-
19944376134
-
Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8
-
DOI 10.1136/jmg.2004.021501
-
Ausseil J, Loredo-Osti JC, Verner A, Darmond-Zwaig C, Maire I, Poorthuis B, van Diggelen OP, Hudson TJ, Fujiwara TM, Morgan K, Pshezhetsky AV. 2004. Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. J Med Genet 41:941-945. (Pubitemid 40007256)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.12
, pp. 941-944
-
-
Ausseil, J.1
Loredo-Osti, J.C.2
Verner, A.3
Darmond-Zwaig, C.4
Maire, I.5
Poorthuis, B.6
Van Diggelen, O.P.7
Hudson, T.J.8
Fujiwara, T.M.9
Morgan, K.10
Pshezhetsky, A.V.11
-
2
-
-
29344470512
-
An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: A candidate molecule for MPS IIIC
-
DOI 10.1016/j.ymgme.2005.09.021, PII S1096719205003173
-
Ausseil J, Landry K, Seyrantepe V, Trudel S, Mazur A, Lapointe F, Pshezhetsky AV. 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. (Pubitemid 43003763)
-
(2006)
Molecular Genetics and Metabolism
, vol.87
, Issue.1
, pp. 22-31
-
-
Ausseil, J.1
Landry, K.2
Seyrantepe, V.3
Trudel, S.4
Mazur, A.5
Lapointe, F.6
Pshezhetsky, A.V.7
-
3
-
-
0022195520
-
Acetyl coenzyme A:α-glucosaminide N-acetyltransferase. Evidence for a transmembrane acetylation mechanism
-
Bame KJ, Rome LH. 1985. Acetyl-coenzyme A: α-glucosaminide N-acetyltransferase: evidence for a transmembrane acetylation mechanism. J Biol Chem 260:11293-11299. (Pubitemid 16253296)
-
(1985)
Journal of Biological Chemistry
, vol.260
, Issue.20
, pp. 11293-11299
-
-
Bame, K.J.1
Rome, L.H.2
-
4
-
-
0022827671
-
Acetyl-coenzyme A:α-glucosaminide N-acetyltransferase. Evidence for an active site histidine residue
-
Bame KJ, Rome LH. 1986a. Acetyl-coenzyme A: α-glucosaminide N-acetyltransferase: evidence for an active site histidine residue. J Biol Chem 261:10127-10132. (Pubitemid 17221946)
-
(1986)
Journal of Biological Chemistry
, vol.261
, Issue.22
, pp. 10127-10132
-
-
Bame, K.J.1
Rome, L.H.2
-
5
-
-
0022468494
-
Genetic evidence for transmembrane acetylation by lysosomes
-
Bame KJ, Rome LH. 1986b. Genetic evidence for transmembrane acetylation by lysosomes. Science 233:1087-1089. (Pubitemid 16032240)
-
(1986)
Science
, vol.233
, Issue.4768
, pp. 1087-1089
-
-
Bame, K.J.1
Rome, L.H.2
-
6
-
-
0018378695
-
Sanfilippo type C disease: Clinical findings in four patients with a new variant of mucopolysaccharidosis III
-
Bartsocas C, Grobe H, van de Kamp JJP, von Figura K, Kresse H, Klein U, Giesberts MAH. 1979. Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III. Eur J Pediatr 130:251-258. (Pubitemid 9125551)
-
(1979)
European Journal of Pediatrics
, vol.130
, Issue.4
, pp. 251-258
-
-
Bartsocas, C.1
Groebe, H.2
Van De Kamp, J.J.P.3
-
7
-
-
16544362283
-
Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters [3]
-
DOI 10.1007/s00415-004-0368-5
-
Berger-Plantinga EG, Vanneste JA, Groener JE, van Schooneveld MJ. 2004. Adultonset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. J Neurol 251:479-481. (Pubitemid 38501310)
-
(2004)
Journal of Neurology
, vol.251
, Issue.4
, pp. 479-481
-
-
Berger-Plantinga, E.G.1
Vanneste, J.A.L.2
Groener, J.E.M.3
Van Schooneveld, M.J.4
-
8
-
-
0038795645
-
Signals for sorting of transmembrane proteins to endosomes and lysosomes
-
DOI 10.1146/annurev.biochem.72.121801.161800
-
Bonifacino JS, Traub LM. 2003. Signals for sorting of transmembrane proteins to endosomes and lysosomes. Annu Rev Biochem 72:395-447. (Pubitemid 36930451)
-
(2003)
Annual Review of Biochemistry
, vol.72
, pp. 395-447
-
-
Bonifacino, J.S.1
Traub, L.M.2
-
9
-
-
47149104724
-
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: Two novel mutations in the HGSNAT gene
-
Coutinho MF, Lacerda L, Prata MJ, Ribeiro H, Lopes L, Ferreira C, Alves S. 2008. Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. Clin Genet 74:194-195.
-
(2008)
Clin Genet
, vol.74
, pp. 194-195
-
-
Coutinho, M.F.1
Lacerda, L.2
Prata, M.J.3
Ribeiro, H.4
Lopes, L.5
Ferreira, C.6
Alves, S.7
-
10
-
-
2942588994
-
Enzyme replacement and enhancement therapies for lysosomal diseases
-
DOI 10.1023/B:BOLI.0000031101.12838.c6
-
Desnick RJ. 2004. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 27:385-410. (Pubitemid 38756323)
-
(2004)
Journal of Inherited Metabolic Disease
, vol.27
, Issue.3
, pp. 385-410
-
-
Desnick, R.J.1
-
11
-
-
0043235841
-
A contradictory treatment for lysosomal storage disorders: Inhibitors enhance mutant enzyme activity
-
DOI 10.1016/S0165-6147(03)00158-5
-
Fan J-Q. 2003. A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol Sci 24:355-360. (Pubitemid 37315527)
-
(2003)
Trends in Pharmacological Sciences
, vol.24
, Issue.7
, pp. 355-360
-
-
Fan, J.-Q.1
-
12
-
-
33749024739
-
Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)
-
DOI 10.1086/508068
-
Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ. 2006. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet 79:738-744. (Pubitemid 44452752)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.4
, pp. 738-744
-
-
Fan, X.1
Zhang, H.2
Zhang, S.3
Bagshaw, R.D.4
Tropak, M.B.5
Callahan, J.W.6
Mahuran, D.J.7
-
13
-
-
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, Lübke T, di Natale P, Cosma MP, Ballabio A. 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
Lübke, T.5
Di Natale, P.6
Cosma, M.P.7
Ballabio, A.8
-
14
-
-
33745477973
-
Multiprotein signalling complexes: Regional assembly on heparan sulphate
-
DOI 10.1042/BST0340438
-
Gallagher JT. 2006. Multiprotein signalling complexes: regional assembly on heparan sulphate. Biochem Soc Trans 34(Pt 3):438-441. (Pubitemid 43954006)
-
(2006)
Biochemical Society Transactions
, vol.34
, Issue.3
, pp. 438-441
-
-
Gallagher, J.T.1
-
15
-
-
0035000631
-
The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders
-
DOI 10.1023/A:1010319001722
-
Gregersen N, Bross P, Andrese BS, Pedersen CB, Corydon TJ, Bolund L. 2001. The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders. J Inherit Metab Dis 24:189-212. (Pubitemid 32479415)
-
(2001)
Journal of Inherited Metabolic Disease
, vol.24
, Issue.2
, pp. 189-212
-
-
Gregersen, N.1
Bross, P.2
Andresen, B.S.3
Pedersen, C.B.4
Corydon, T.J.5
Bolund, L.6
-
16
-
-
0020532846
-
Cellular location of N-acetyltransferase activities toward glucosamine and glucosamine-6-phosphate in cultured human skin fibroblasts
-
Hopwood JJ, Freeman C, Clements PR, Stein R, Miller AL. 1983. Cellular location of N-acetyltransferase activities toward glucosamine and glucosamine-6-phosphate in cultured human skin fibroblasts. Biochem Int 6:823-830.
-
(1983)
Biochem Int
, vol.6
, pp. 823-830
-
-
Hopwood, J.J.1
Freeman, C.2
Clements, P.R.3
Stein, R.4
Miller, A.L.5
-
17
-
-
33751117228
-
Mutations in TMEM76*cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
-
DOI 10.1086/508294
-
Hřebíček M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Čížková A, Poupětová H, Sikora J, Uøinovská J, Stránecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis B, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. 2006. Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet 79:807-819. (Pubitemid 44763396)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.5
, pp. 807-819
-
-
Hrebicek, M.1
Mrazova, L.2
Seyrantepe, V.3
Durand, S.4
Roslin, N.M.5
Noskova, L.6
Hartmannova, H.7
Ivanek, R.8
Cizkova, A.9
Poupetova, H.10
Sikora, J.11
Urinovska, J.12
Stranecky, V.13
Zeman, J.14
Lepage, P.15
Roquis, D.16
Verner, A.17
Ausseil, J.18
Beesley, C.E.19
Maire, I.20
Poorthuis, B.J.H.M.21
Van De Kamp, J.22
Van Diggelen, O.P.23
Wevers, R.A.24
Hudson, T.J.25
Fujiwara, T.M.26
Majewski, J.27
Morgan, K.28
Kmoch, S.29
Pshezhetsky, A.V.30
more..
-
18
-
-
36849043985
-
Substrate deprivation therapy: A new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases
-
Jakó bkiewicz-Banecka J, Wegrzyn A, Wegrzyn G. 2007. Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases. J Appl Genet 48:383-388.
-
(2007)
J Appl Genet
, vol.48
, pp. 383-388
-
-
Jakó Bkiewicz-Banecka, J.1
Wegrzyn, A.2
Wegrzyn, G.3
-
20
-
-
0019412821
-
Sanfilippo syndrome type C: Assay for acetyl-CoA: α-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals
-
Klein U, van de Kamp JJP, von Figura K, Pohlmann R. 1981. Sanfilippo syndrome type C: assay for acetyl-CoA: α-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals. Clin Genet 20:55-59. (Pubitemid 11013009)
-
(1981)
Clinical Genetics
, vol.20
, Issue.1
, pp. 55-59
-
-
Klein, U.1
Van De Kamp, J.J.P.2
Von Figura, K.3
Pohlmann, R.4
-
21
-
-
0017030944
-
Clinical and biochemical findings in a family with Sanfillippo disease type C
-
Kresse H, Von Figura K, Bartsocas C. 1976. Clinical and biochemical findings in a family with Sanfilippo disease, type C. Clin Genet 10:364 (Abstract). (Pubitemid 8009422)
-
(1976)
Clinical Genetics
, vol.10
, Issue.6
, pp. 364
-
-
Kresse, H.1
Von Figura, K.2
Bartsocas, C.3
-
22
-
-
48149095822
-
Alternative splicing resulting in nonsense-mediated mRNA decay: What is the meaning of nonsense?
-
McGlincy NJ, Smith CWJ. 2008. Alternative splicing resulting in nonsense-mediated mRNA decay: what is the meaning of nonsense? Trends Biochem Sci 33:385-393.
-
(2008)
Trends Biochem Sci
, vol.33
, pp. 385-393
-
-
McGlincy, N.J.1
Smith, C.W.J.2
-
23
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
DOI 10.1001/jama.281.3.249
-
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. 1999. Prevalence of lysosomal storage disorders. JAMA 281:249-254. (Pubitemid 29058114)
-
(1999)
Journal of the American Medical Association
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
25
-
-
10744233030
-
Prevalence of lysosomal storage diseases in Portugal
-
DOI 10.1038/sj.ejhg.5201044
-
Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcao A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sa Miranda MC. 2004. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12:87-92. (Pubitemid 38263551)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.2
, pp. 87-92
-
-
Pinto, R.1
Caseiro, C.2
Lemos, M.3
Lopes, L.4
Fontes, A.5
Ribeiro, H.6
Pinto, E.7
Silva, E.8
Rocha, S.9
Marcao, A.10
Ribeiro, I.11
Lacerda, L.12
Ribeiro, G.13
Amaral, O.14
Sa Miranda, M.C.15
-
26
-
-
33745279635
-
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses
-
Piotrowska E, Jakó bkiewicz-Banecka J, Barañska S, Tylki-Szymañska A, Czartoryska B, Wegrzyn A, Wegrzyn G. 2006. Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet 14:846-852.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 846-852
-
-
Piotrowska, E.1
Jakó Bkiewicz-Banecka, J.2
Barañska, S.3
Tylki-Szymañska, A.4
Czartoryska, B.5
Wegrzyn, A.6
Wegrzyn, G.7
-
27
-
-
0019620697
-
Localisation of acetyl-CoA: α-glucosaminide N-acetyltransferase in microsomes and lysosomes of rat liver
-
Pohlmann R, Klein U, Fromme HG, von Figura K. 1981. Localisation of acetyl-CoA: α-glucosaminide N-acetyltransferase in microsomes and lysosomes of rat liver. Hoppe Seylers Z Physiol Chem 362:1199-1207.
-
(1981)
Hoppe Seylers Z Physiol Chem
, vol.362
, pp. 1199-1207
-
-
Pohlmann, R.1
Klein, U.2
Fromme, H.G.3
Von Figura, K.4
-
28
-
-
0032780351
-
The frequency of lysosomal storage diseases in the Netherlands
-
DOI 10.1007/s004399900075
-
Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP. 1999. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151-156. (Pubitemid 29396979)
-
(1999)
Human Genetics
, vol.105
, Issue.1-2
, pp. 151-156
-
-
Poorthuis, B.J.H.M.1
Wevers, R.A.2
Kleijer, W.J.3
Groener, J.E.M.4
De Jong, J.G.N.5
Van Weely, S.6
Niezen-Koning, K.E.7
Van Diggelen, O.P.8
-
29
-
-
0021099235
-
Utilization of exogenously added acetyl coenzyme a by intact isolated lysosomes
-
Rome LH, Hill DF, Bame KJ, Crain LR. 1983. Utilization of exogenously added acetyl coenzyme A by intact isolated lysosomes. J Biol Chem 258:3006-3011.
-
(1983)
J Biol Chem
, vol.258
, pp. 3006-3011
-
-
Rome, L.H.1
Hill, D.F.2
Bame, K.J.3
Crain, L.R.4
-
30
-
-
38049115253
-
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in the Netherlands
-
Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA. 2008. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 93:104-111.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 104-111
-
-
Ruijter, G.J.1
Valstar, M.J.2
Van De Kamp, J.M.3
Van Der Helm, R.M.4
Durand, S.5
Van Diggelen, O.P.6
Wevers, R.A.7
Poorthuis, B.J.8
Pshezhetsky, A.V.9
Wijburg, F.A.10
-
31
-
-
0000646543
-
Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type)
-
Sanfilippo SJ, Podosin R, Langer LO, Jr, Good RA. 1963. Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J Pediatr 63:837-838.
-
(1963)
J Pediatr
, vol.63
, pp. 837-838
-
-
Sanfilippo, S.J.1
Podosin, R.2
Langer Jr., L.O.3
Good, R.A.4
-
32
-
-
10244225308
-
TMRPres2D: High quality visual representation of transmembrane protein models
-
DOI 10.1093/bioinformatics/bth358
-
Spyropoulos IC, Liakopoulos TD, Bagos PG, Hamodrakas SJ. 2004. TMRPres2D: high quality visual representation of transmembrane protein models. Bioinformatics 20:3258-3260. (Pubitemid 39619221)
-
(2004)
Bioinformatics
, vol.20
, Issue.17
, pp. 3258-3260
-
-
Spyropoulos, I.C.1
Liakopoulos, T.D.2
Bagos, P.G.3
Hamodrakas, S.J.4
-
33
-
-
43149098040
-
Sanfilippo syndrome: A mini-review
-
Valstar MJ, Ruijter GJG, van Diggelen OP, Poorthuis BJ, Wijburg FA. 2008. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 31:240-252.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 240-252
-
-
Valstar, M.J.1
Ruijter, G.J.G.2
Van Diggelen, O.P.3
Poorthuis, B.J.4
Wijburg, F.A.5
|