Niemann–Pick disease type C
Tóm tắt
Từ khóa
Tài liệu tham khảo
Schneider PB, 1967, Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann–Pick disease, J Lipid Res, 83, 202, 10.1016/S0022-2275(20)40138-5
Pentchev PG, 1995, The metabolic and molecular bases of inherited disease, 2625
Patterson MC, 2001, The metabolic and molecular bases of inherited disease, 3611
Pentchev PG, 1987, Group C Niemann–Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts, FASEB J, 11, 40, 10.1096/fasebj.1.1.3609608
Sokol J, 1988, Type C Niemann–Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol, J Biol Chem, 2637, 3411, 10.1016/S0021-9258(18)69086-6
Vanier MT, 1996, Genetic heterogeneity in Niemann–Pick C disease: a study using somatic cell hybridization and linkage analysis, Am J Hum Genet, 581, 118
Vanier MT, 1996, Neurodystrophies and neurolipidoses. Handbook of clinical neurology, 133
Wiegand V, 2003, Transport of plasma membrane‐derived cholesterol and the function of Niemann–Pick C1 protein, FASEB J, 17, 782, 10.1096/fj.02-0818fje
Liscum L, 1989, The intracellular transport of low density lipoprotein‐derived cholesterol is inhibited in Chinese hamster ovary cells cultured with 3‐beta‐[2‐(diethylamino) ethoxy]androst‐5‐en‐17‐one, J Biol Chem, 264, 11796, 10.1016/S0021-9258(18)80136-3
Vanier MT, 1992, Prenatal diagnosis of Niemann–Pick type C disease: current strategy from an experience of 37 pregnancies at risk, Am J Hum Genet, 51, 111
Veyron P, 1996, Donor‐derived cells in various tissues including brain of Balb/c CSD mice after fetal liver transplantation, Transplant Proc, 28, 1778
MellonSH GongW GriffinLD.Neurosteroids in treatment of Niemann–Pick C. The 2nd International Conference on Niemann–Pick C Disease Tucson May 29–31 2003 [Abstract].