BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

253 related articles for article (PubMed ID: 22227072)

  • 1. Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.
    Fasano T; Pisciotta L; Bocchi L; Guardamagna O; Assandro P; Rabacchi C; Zanoni P; Filocamo M; Bertolini S; Calandra S
    Mol Genet Metab; 2012 Mar; 105(3):450-6. PubMed ID: 22227072
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 110():22-9. PubMed ID: 25620107
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 33(1):85-93. PubMed ID: 8617513
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 39(7):1382-8. PubMed ID: 9684740
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
    Anderson RA; Bryson GM; Parks JS
    Mol Genet Metab; 1999 Nov; 68(3):333-45. PubMed ID: 10562460
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 40(2):221-8. PubMed ID: 9925650
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
    Pisciotta L; Tozzi G; Travaglini L; Taurisano R; Lucchi T; Indolfi G; Papadia F; Di Rocco M; D'Antiga L; Crock P; Vora K; Nightingale S; Michelakakis H; Garoufi A; Lykopoulou L; Bertolini S; Calandra S
    Atherosclerosis; 2017 Oct; 265():124-132. PubMed ID: 28881270
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 9(5):716-26.e1. PubMed ID: 26350820
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 12(1):44-51. PubMed ID: 9633819
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 7(9):1347-54. PubMed ID: 9700186
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
    Scott SA; Liu B; Nazarenko I; Martis S; Kozlitina J; Yang Y; Ramirez C; Kasai Y; Hyatt T; Peter I; Desnick RJ
    Hepatology; 2013 Sep; 58(3):958-65. PubMed ID: 23424026
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Structural bases of Wolman disease and cholesteryl ester storage disease.
    Saito S; Ohno K; Suzuki T; Sakuraba H
    Mol Genet Metab; 2012 Feb; 105(2):244-8. PubMed ID: 22138108
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 37(8):1761-5. PubMed ID: 8864960
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 64(2):126-34. PubMed ID: 9705237
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency.
    Zhang B; Porto AF
    J Pediatr Gastroenterol Nutr; 2013 Jun; 56(6):682-5. PubMed ID: 23403440
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.
    Bowden KL; Bilbey NJ; Bilawchuk LM; Boadu E; Sidhu R; Ory DS; Du H; Chan T; Francis GA
    J Biol Chem; 2011 Sep; 286(35):30624-30635. PubMed ID: 21757691
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 59(3):543-9. PubMed ID: 23624251
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice.
    Du H; Heur M; Witte DP; Ameis D; Grabowski GA
    Hum Gene Ther; 2002 Jul; 13(11):1361-72. PubMed ID: 12162818
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.
    Porto AF
    Pediatr Endocrinol Rev; 2014 Sep; 12 Suppl 1():125-32. PubMed ID: 25345094
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
    Pisciotta L; Fresa R; Bellocchio A; Pino E; Guido V; Cantafora A; Di Rocco M; Calandra S; Bertolini S
    Mol Genet Metab; 2009 Jun; 97(2):143-8. PubMed ID: 19307143
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.