Literature DB >> 526296

I-cell disease: deficiency of extracellular hydrolase phosphorylation.

G Bach, R Bargal, M Cantz.   

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Year:  1979        PMID： 526296     DOI： 10.1016/0006-291x(79)91975-2

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  22 in total

1.  Dual pathways for ribonucleic acid turnover in WI-38 but not in I-cell human diploid fibroblasts.

Authors:  M Sameshima; S A Liebhaber; D Schlessinger
Journal:  Mol Cell Biol       Date:  1981-01       Impact factor: 4.272

2.  A variant of mucolipidosis. II. Clinical, biochemical and pathological investigations.

Authors:  L Poenaru; L Castelnau; F Tome; J Boue; P Maroteaux
Journal:  Eur J Pediatr       Date:  1988-04       Impact factor: 3.183

Review 3.  Lysosomal storage diseases: mechanisms of enzyme replacement therapy.

Authors:  G Bou-Gharios; D Abraham; I Olsen
Journal:  Histochem J       Date:  1993-09

4.  Mutant of Chinese hamster ovary cells with altered mannose 6-phosphate receptor activity is unable to synthesize mannosylphosphoryldolichol.

Authors:  J Stoll; A R Robbins; S S Krag
Journal:  Proc Natl Acad Sci U S A       Date:  1982-04       Impact factor: 11.205

5.  Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.

Authors:  A P Varki; M L Reitman; S Kornfeld
Journal:  Proc Natl Acad Sci U S A       Date:  1981-12       Impact factor: 11.205

6.  Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.

Authors:  G H Thomas; C S Miller; K E Toomey; L W Reynolds; M L Reitman; A Varki; A Vannier; K N Rosebaum; W B Bias; B H Schofield
Journal:  Am J Hum Genet       Date:  1982-07       Impact factor: 11.025

7.  The effect of chloroquine on the distribution of newly synthesized and old beta-hexosaminidase in fibroblasts.

Authors:  G D Vladutiu
Journal:  Biochem J       Date:  1982-12-15       Impact factor: 3.857

8.  The Drosophila neurally altered carbohydrate mutant has a defective Golgi GDP-fucose transporter.

Authors:  Christoph Geisler; Varshika Kotu; Mary Sharrow; Dubravko Rendić; Gerald Pöltl; Michael Tiemeyer; Iain B H Wilson; Donald L Jarvis
Journal:  J Biol Chem       Date:  2012-06-28       Impact factor: 5.157

9.  Defective catabolism of low-density lipoprotein by fibroblasts from patients with I-cell disease.

Authors:  J C Williams; D B Weinstein; A L Miller; D Steinberg
Journal:  Biochem J       Date:  1982-01-15       Impact factor: 3.857

10.  Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.

Authors:  A Varki; M L Reitman; A Vannier; S Kornfeld; J H Grubb; W S Sly
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025
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