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161 related items for PubMed ID: 8576647

  • 1. Cloning of rat lysosomal acid lipase cDNA and identification of the mutation in the rat model of Wolman's disease.
    Nakagawa H, Matsubara S, Kuriyama M, Yoshidome H, Fujiyama J, Yoshida H, Osame M.
    J Lipid Res; 1995 Oct; 36(10):2212-8. PubMed ID: 8576647
    [Abstract] [Full Text] [Related]

  • 2. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
    Aslanidis C, Ries S, Fehringer P, Büchler C, Klima H, Schmitz G.
    Genomics; 1996 Apr 01; 33(1):85-93. PubMed ID: 8617513
    [Abstract] [Full Text] [Related]

  • 3. Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein.
    Du H, Witte DP, Grabowski GA.
    J Lipid Res; 1996 May 01; 37(5):937-49. PubMed ID: 8725147
    [Abstract] [Full Text] [Related]

  • 4. Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.
    Rajamohan F, Reyes AR, Ruangsiriluk W, Hoth LR, Han S, Caspers N, Tu M, Ward J, Kurumbail RG.
    Protein Expr Purif; 2015 Jun 01; 110():22-9. PubMed ID: 25620107
    [Abstract] [Full Text] [Related]

  • 5. A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
    Ries S, Aslanidis C, Fehringer P, Carel JC, Gendrel D, Schmitz G.
    J Lipid Res; 1996 Aug 01; 37(8):1761-5. PubMed ID: 8864960
    [Abstract] [Full Text] [Related]

  • 6. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase.
    Ameis D, Merkel M, Eckerskorn C, Greten H.
    Eur J Biochem; 1994 Feb 01; 219(3):905-14. PubMed ID: 8112342
    [Abstract] [Full Text] [Related]

  • 7. Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.
    Du H, Duanmu M, Witte D, Grabowski GA.
    Hum Mol Genet; 1998 Sep 01; 7(9):1347-54. PubMed ID: 9700186
    [Abstract] [Full Text] [Related]

  • 8. Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.
    Zschenker O, Jung N, Rethmeier J, Trautwein S, Hertel S, Zeigler M, Ameis D.
    J Lipid Res; 2001 Jul 01; 42(7):1033-40. PubMed ID: 11441129
    [Abstract] [Full Text] [Related]

  • 9. Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase.
    Tietge UJ, Sun G, Czarnecki S, Yu Q, Lohse P, Du H, Grabowski GA, Glick JM, Rader DJ.
    Hum Gene Ther; 2001 Feb 10; 12(3):279-89. PubMed ID: 11177564
    [Abstract] [Full Text] [Related]

  • 10. A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.
    Ameis D, Brockmann G, Knoblich R, Merkel M, Ostlund RE, Yang JW, Coates PM, Cortner JA, Feinman SV, Greten H.
    J Lipid Res; 1995 Feb 10; 36(2):241-50. PubMed ID: 7751811
    [Abstract] [Full Text] [Related]

  • 11. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
    Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina AB, Ruotolo G, Rabusin M, Baralle FE.
    J Lipid Res; 1998 Jul 10; 39(7):1382-8. PubMed ID: 9684740
    [Abstract] [Full Text] [Related]

  • 12. Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonance.
    Thelwall PE, Smith FE, Leavitt MC, Canty D, Hu W, Hollingsworth KG, Thoma C, Trenell MI, Taylor R, Rutkowski JV, Blamire AM, Quinn AG.
    J Hepatol; 2013 Sep 10; 59(3):543-9. PubMed ID: 23624251
    [Abstract] [Full Text] [Related]

  • 13. Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases.
    Anderson RA, Sando GN.
    J Biol Chem; 1991 Nov 25; 266(33):22479-84. PubMed ID: 1718995
    [Abstract] [Full Text] [Related]

  • 14. Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene.
    Wang AM, Bishop DF, Desnick RJ.
    J Biol Chem; 1990 Dec 15; 265(35):21859-66. PubMed ID: 2174888
    [Abstract] [Full Text] [Related]

  • 15. Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.
    Ries S, Büchler C, Schindler G, Aslanidis C, Ameis D, Gasche C, Jung N, Schambach A, Fehringer P, Vanier MT, Belli DC, Greten H, Schmitz G.
    Hum Mutat; 1998 Dec 15; 12(1):44-51. PubMed ID: 9633819
    [Abstract] [Full Text] [Related]

  • 16. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
    Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmitz G.
    J Clin Invest; 1993 Dec 15; 92(6):2713-8. PubMed ID: 8254026
    [Abstract] [Full Text] [Related]

  • 17. Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.
    Lohse P, Maas S, Sewell AC, van Diggelen OP, Seidel D.
    J Lipid Res; 1999 Feb 15; 40(2):221-8. PubMed ID: 9925650
    [Abstract] [Full Text] [Related]

  • 18. Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
    Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA.
    Mol Genet Metab; 1998 Jun 15; 64(2):126-34. PubMed ID: 9705237
    [Abstract] [Full Text] [Related]

  • 19. Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.
    Sheriff S, Du H, Grabowski GA.
    J Biol Chem; 1995 Nov 17; 270(46):27766-72. PubMed ID: 7499245
    [Abstract] [Full Text] [Related]

  • 20. Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.
    Pullinger CR, Stock EO, Movsesyan I, Malloy MJ, Frost PH, Tripuraneni R, Quinn AG, Ishida BY, Schaefer EJ, Asztalos BF, Kane JP.
    J Clin Lipidol; 2015 Nov 17; 9(5):716-26.e1. PubMed ID: 26350820
    [Abstract] [Full Text] [Related]

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