327 related articles for article (PubMed ID: 19944693)
41. Niemann-Pick Disease versus acid sphingomyelinase deficiency.
Lozano J; Morales A; Cremesti A; Fuks Z; Tilly JL; Schuchman E; Gulbins E; Kolesnick R
Cell Death Differ; 2001 Jan; 8(1):100-3. PubMed ID: 11313707
[No Abstract] [Full Text] [Related]
42. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
Schuchman EH
J Inherit Metab Dis; 2007 Oct; 30(5):654-63. PubMed ID: 17632693
[TBL] [Abstract][Full Text] [Related]
43. Pathology of visceral organs and bone marrow in an acid sphingomyelinase deficient knock-out mouse line, mimicking human Niemann-Pick disease type A. A light and electron microscopic study.
Kuemmel TA; Thiele J; Schroeder R; Stoffel W
Pathol Res Pract; 1997; 193(10):663-71. PubMed ID: 9505258
[TBL] [Abstract][Full Text] [Related]
44. Niemann-Pick disease: prenatal diagnoses and studies of sphingomyelinase activities.
Wenger DA; Wharton C; Sattler M; Clark C
Am J Med Genet; 1978; 2(4):345-56. PubMed ID: 233699
[TBL] [Abstract][Full Text] [Related]
45. SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R; Qin Z; Huang L; Luo H; Peng H; Zhou X; Zhao Z; Liu M; Yang P; Shi T
Hereditas; 2023 Mar; 160(1):11. PubMed ID: 36907956
[TBL] [Abstract][Full Text] [Related]
46. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.
Levran O; Desnick RJ; Schuchman EH
Blood; 1992 Oct; 80(8):2081-7. PubMed ID: 1391960
[TBL] [Abstract][Full Text] [Related]
47. 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]
48. Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.
Aykut A; Karaca E; Onay H; Ucar SK; Coker M; Cogulu O; Ozkinay F
Gene; 2013 Sep; 526(2):484-6. PubMed ID: 23618813
[TBL] [Abstract][Full Text] [Related]
49. Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin.
Dinur T; Schuchman EH; Fibach E; Dagan A; Suchi M; Desnick RJ; Gatt S
Hum Gene Ther; 1992 Dec; 3(6):633-9. PubMed ID: 1482703
[TBL] [Abstract][Full Text] [Related]
50. Types A and B Niemann-Pick disease.
Schuchman EH; Desnick RJ
Mol Genet Metab; 2017; 120(1-2):27-33. PubMed ID: 28164782
[TBL] [Abstract][Full Text] [Related]
51. Permeability barrier disorder in Niemann-Pick disease: sphingomyelin-ceramide processing required for normal barrier homeostasis.
Schmuth M; Man MQ; Weber F; Gao W; Feingold KR; Fritsch P; Elias PM; Holleran WM
J Invest Dermatol; 2000 Sep; 115(3):459-66. PubMed ID: 10951284
[TBL] [Abstract][Full Text] [Related]
52. Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease.
Pérez-Cañamás A; Benvegnù S; Rueda CB; Rábano A; Satrústegui J; Ledesma MD
Mol Psychiatry; 2017 May; 22(5):711-723. PubMed ID: 27620840
[TBL] [Abstract][Full Text] [Related]
53. Evidence for the association of ultraviolet-C and H(2)O(2)-induced apoptosis with acid sphingomyelinase activation.
Komatsu M; Takahashi T; Abe T; Takahashi I; Ida H; Takada G
Biochim Biophys Acta; 2001 Aug; 1533(1):47-54. PubMed ID: 11514235
[TBL] [Abstract][Full Text] [Related]
54. Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.
Takahashi T; Suchi M; Sato W; Ten SB; Sakuragawa N; Desnick RJ; Schuchman EH; Takada G
Tohoku J Exp Med; 1995 Oct; 177(2):117-23. PubMed ID: 8693491
[TBL] [Abstract][Full Text] [Related]
55. Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy.
Dhami R; Schuchman EH
J Biol Chem; 2004 Jan; 279(2):1526-32. PubMed ID: 14557264
[TBL] [Abstract][Full Text] [Related]
56. Signaling pathway for radiation-induced apoptosis in the lymphoblasts from neuronopathic (type A) and non-neuronopathic (type B) forms of Niemann-Pick disease.
Mikami T; Takahashi T; Ishida A; Minamiya Y; Ida H; Takada G
J Neurol Sci; 2002 Jul; 199(1-2):39-43. PubMed ID: 12084440
[TBL] [Abstract][Full Text] [Related]
57. A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease.
He X; Chen F; Dagan A; Gatt S; Schuchman EH
Anal Biochem; 2003 Mar; 314(1):116-20. PubMed ID: 12633609
[TBL] [Abstract][Full Text] [Related]
58. 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]
59. Improvement of biochemical and behavioral defects in the Niemann-Pick type A mouse by intraventricular infusion of MARCKS.
Trovò L; Stroobants S; D'Hooge R; Ledesma MD; Dotti CG
Neurobiol Dis; 2015 Jan; 73():319-26. PubMed ID: 25251606
[TBL] [Abstract][Full Text] [Related]
60. Neurons regulate the esterification of bioactive lipid mediators in the brain of acid sphingomyelinase deficient mice.
Taha AY; Gaudioso Á; Moran-Garrido M; Camunas-Alberca SM; Bachiller-Hernández J; Sáiz J; Ledesma MD; Barbas C
Prog Neuropsychopharmacol Biol Psychiatry; 2024 Feb; 129():110896. PubMed ID: 37956788
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
