192 related articles for article (PubMed ID: 17517638)
21. Ex vivo gene therapy using bone marrow-derived cells: combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick disease.
Jin HK; Schuchman EH
Mol Ther; 2003 Dec; 8(6):876-85. PubMed ID: 14664789
[TBL] [Abstract][Full Text] [Related]
22. An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease.
He X; Chen F; Gatt S; Schuchman EH
Anal Biochem; 2001 Jun; 293(2):204-11. PubMed ID: 11399033
[TBL] [Abstract][Full Text] [Related]
23. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
Schuchman EH
Int J Clin Pharmacol Ther; 2009; 47 Suppl 1():S48-57. PubMed ID: 20040312
[TBL] [Abstract][Full Text] [Related]
24. Clinical and biochemical diagnostics of Niemann-Pick disease.
Maciejko D; Tylki-Szymańska A
Klin Padiatr; 1986; 198(2):103-6. PubMed ID: 3009958
[TBL] [Abstract][Full Text] [Related]
25. Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease.
Ziegler RJ; Brown C; Barbon CM; D'Angona AM; Schuchman EH; Andrews L; Thurberg BL; McPherson JM; Karey KP; Cheng SH
Mol Genet Metab; 2009 May; 97(1):35-42. PubMed ID: 19231265
[TBL] [Abstract][Full Text] [Related]
26. [Study of acid sphingomyelinase in Niemann-Pick mice].
Sakiyama T; Kitagawa T
Tanpakushitsu Kakusan Koso; 1991 Feb; 36(3):484-90. PubMed ID: 2024027
[No Abstract] [Full Text] [Related]
27. Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures.
Erlich S; Miranda SR; Visser JW; Dagan A; Gatt S; Schuchman EH
Blood; 1999 Jan; 93(1):80-6. PubMed ID: 9864149
[TBL] [Abstract][Full Text] [Related]
28. Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degeneration.
Macauley SL; Sidman RL; Schuchman EH; Taksir T; Stewart GR
Exp Neurol; 2008 Dec; 214(2):181-92. PubMed ID: 18778708
[TBL] [Abstract][Full Text] [Related]
29. Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease.
Ikegami M; Dhami R; Schuchman EH
Am J Physiol Lung Cell Mol Physiol; 2003 Mar; 284(3):L518-25. PubMed ID: 12495943
[TBL] [Abstract][Full Text] [Related]
30. Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease.
Dhami R; He X; Gordon RE; Schuchman EH
Lab Invest; 2001 Jul; 81(7):987-99. PubMed ID: 11454988
[TBL] [Abstract][Full Text] [Related]
31. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.
Takahashi T; Suchi M; Desnick RJ; Takada G; Schuchman EH
J Biol Chem; 1992 Jun; 267(18):12552-8. PubMed ID: 1618760
[TBL] [Abstract][Full Text] [Related]
32. An animal model of human acid sphingomyelinase deficiency (Niemann-Pick disease) and the study of its enzyme replacement (the Japan Society of Human Genetics award lecture).
Kitagawa T
Jinrui Idengaku Zasshi; 1987 Jun; 32(2):55-69. PubMed ID: 2830422
[No Abstract] [Full Text] [Related]
33. Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.
Jones I; He X; Katouzian F; Darroch PI; Schuchman EH
Mol Genet Metab; 2008 Nov; 95(3):152-62. PubMed ID: 18815062
[TBL] [Abstract][Full Text] [Related]
34. Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function.
Marathe S; Miranda SR; Devlin C; Johns A; Kuriakose G; Williams KJ; Schuchman EH; Tabas I
Hum Mol Genet; 2000 Aug; 9(13):1967-76. PubMed ID: 10942425
[TBL] [Abstract][Full Text] [Related]
35. Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery.
Fu H; DiRosario J; Kang L; Muenzer J; McCarty DM
J Gene Med; 2010 Jul; 12(7):624-33. PubMed ID: 20603889
[TBL] [Abstract][Full Text] [Related]
36. New tools for the study of Niemann-Pick disease: analogues of natural substrate and Epstein-Barr virus-transformed lymphoid cell lines.
Levade T; Salvayre R; Bes JC; Nezri M; Douste-Blazy L
Pediatr Res; 1985 Jan; 19(1):153-7. PubMed ID: 2982124
[TBL] [Abstract][Full Text] [Related]
37. Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease.
Ginzburg L; Futerman AH
J Neurochem; 2005 Dec; 95(6):1619-28. PubMed ID: 16277603
[TBL] [Abstract][Full Text] [Related]
38. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Pittis MG; Ricci V; Guerci VI; Marçais C; Ciana G; Dardis A; Gerin F; Stroppiano M; Vanier MT; Filocamo M; Bembi B
Hum Mutat; 2004 Aug; 24(2):186-7. PubMed ID: 15241805
[TBL] [Abstract][Full Text] [Related]
39. Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease.
Moles A; Tarrats N; Fernández-Checa JC; Marí M
J Biol Chem; 2012 Jan; 287(2):1178-88. PubMed ID: 22102288
[TBL] [Abstract][Full Text] [Related]
40. [Advances in molecular genetics of the Niemann-Pick group of diseases].
Ohno K
Nihon Rinsho; 1993 Sep; 51(9):2293-9. PubMed ID: 8411705
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
