90 related articles for article (PubMed ID: 2847740)
1. Biochemical studies on lymphoblastoid cells with inherited N-acetyl-glucosamine 1-phosphotransferase deficiency (I-cell disease).
Okada S; Handa M; Hashimoto T; Nishimoto J; Inui K; Furukawa M; Furuyama J; Yabuuchi H; Tate M; Gasa S
Biochem Int; 1988 Aug; 17(2):375-83. PubMed ID: 2847740
[TBL] [Abstract][Full Text] [Related]
2. Properties of N-acetylglucosamine 1-phosphotransferase from human lymphoblasts.
Little L; Alcouloumre M; Drotar AM; Herman S; Robertson R; Yeh RY; Miller AL
Biochem J; 1987 Nov; 248(1):151-9. PubMed ID: 2829817
[TBL] [Abstract][Full Text] [Related]
3. Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants.
Shows TB; Mueller OT; Honey NK; Wright CE; Miller AL
Am J Med Genet; 1982 Jul; 12(3):343-53. PubMed ID: 6287841
[TBL] [Abstract][Full Text] [Related]
4. [The deficiency of UDP-GlcNAc: lysosomal enzyme alpha-N-acetylglucosaminylphosphotransferase and the related diseases].
Gasa S
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):706-8. PubMed ID: 2855952
[No Abstract] [Full Text] [Related]
5. Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis.
Sun Q; Li J; Wang C; Huang X; Huang H; Du D; Liang Y; Han H
Gene; 2005 Feb; 347(1):55-64. PubMed ID: 15716021
[TBL] [Abstract][Full Text] [Related]
6. Normalization of intracellular lysosomal hydrolases in I-cell disease fibroblasts with sucrose loading.
Kato T; Okada S; Ohshima T; Inui K; Yutaka T; Yabuuchi H
J Biol Chem; 1982 Jul; 257(13):7814-9. PubMed ID: 7085649
[TBL] [Abstract][Full Text] [Related]
7. Biochemical heterogeneity in I-cell disease. Sucrose-loading test classifies two distinct subtypes.
Okada S; Inui K; Furukawa M; Midorikawa M; Nishimoto J; Yabuuchi H; Kato T; Watanabe M; Gasa S; Makita A
Enzyme; 1987; 38(1-4):267-72. PubMed ID: 2831041
[TBL] [Abstract][Full Text] [Related]
8. The effects of sucrose loading on lysosomal hydrolases.
Kato T; Okada S; Yutaka T; Yabuuchi H
Mol Cell Biochem; 1984; 60(1):83-98. PubMed ID: 6708943
[TBL] [Abstract][Full Text] [Related]
9. Phosphorylation of arylsulphatase A occurs through multiple interactions with the UDP-N-acetylglucosamine-1-phosphotransferase proximal and distal to its retrieval site by the KDEL receptor.
Dittmer F; von Figura K
Biochem J; 1999 Jun; 340 ( Pt 3)(Pt 3):729-36. PubMed ID: 10359658
[TBL] [Abstract][Full Text] [Related]
10. 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
Hum Mutat; 2004 Dec; 24(6):535. PubMed ID: 15532026
[TBL] [Abstract][Full Text] [Related]
11. Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis.
Mueller OT; Honey NK; Little LE; Miller AL; Shows TB
J Clin Invest; 1983 Sep; 72(3):1016-23. PubMed ID: 6309902
[TBL] [Abstract][Full Text] [Related]
12. Phosphorylation of lysosomal enzymes in fibroblasts. Marked deficiency of N-acetylglucosamine-1-phosphotransferase in fibroblasts of patients with mucolipidosis III.
Waheed A; Hasilik A; Cantz M; von Figura K
Hoppe Seylers Z Physiol Chem; 1982 Feb; 363(2):169-78. PubMed ID: 6460679
[TBL] [Abstract][Full Text] [Related]
13. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.
Reitman ML; Varki A; Kornfeld S
J Clin Invest; 1981 May; 67(5):1574-9. PubMed ID: 6262380
[TBL] [Abstract][Full Text] [Related]
14. Heterogeneity in mucolipidosis II (I-cell disease).
Okada S; Kato T; Oshima T; Yutaka T; Yabuuchi H
Clin Genet; 1983 Feb; 23(2):155-9. PubMed ID: 6839528
[TBL] [Abstract][Full Text] [Related]
15. 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 MJ; Coutinho MF; Ribeiro H; Lopes L; Pineda M; Ignatius J; Galvez H; Mustonen A; Vieira P; Lima MR; Alves S
Clin Genet; 2009 Jul; 76(1):76-84. PubMed ID: 19659762
[TBL] [Abstract][Full Text] [Related]
16. Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts.
Glickman JN; Kornfeld S
J Cell Biol; 1993 Oct; 123(1):99-108. PubMed ID: 8408210
[TBL] [Abstract][Full Text] [Related]
17. Targeting of lysosomal enzymes: N-acetylglucosamine-1-phosphotransferase during muscle development.
Den H; Shanske S; DiMauro S
Muscle Nerve; 1986; 9(3):261-4. PubMed ID: 3010102
[TBL] [Abstract][Full Text] [Related]
18. [I-cell disease and pseudo-Hurler polydystrophy].
Owada M
Nihon Rinsho; 1995 Dec; 53(12):3028-34. PubMed ID: 8577054
[TBL] [Abstract][Full Text] [Related]
19. Deficiency of UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase in organs of I-cell patients.
Waheed A; Pohlmann R; Hasilik A; von Figura K; van Elsen A; Leroy JG
Biochem Biophys Res Commun; 1982 Apr; 105(3):1052-8. PubMed ID: 6212058
[No Abstract] [Full Text] [Related]
20. Lysosomal enzyme phosphorylation in human fibroblasts. Kinetic parameters offer a biochemical rationale for two distinct defects in the uridine diphospho-N-acetylglucosamine:lysosomal enzyme precursor N-acetylglucosamine-1-phosphotransferase.
Lang L; Takahashi T; Tang J; Kornfeld S
J Clin Invest; 1985 Dec; 76(6):2191-5. PubMed ID: 3001146
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]