“ENDOCYTOSIS OF BETA-CYCLODEXTRINS IS RESPONSIBLE FOR CHOLESTEROL REDUCTION IN NIEMANN-PICK TYPE C MUTANT CELLS”

Rosenbaum A.I.; Zhang G.; Warren J.D.

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“ENDOCYTOSIS OF BETA-CYCLODEXTRINS IS RESPONSIBLE FOR CHOLESTEROL REDUCTION IN NIEMANN-PICK TYPE C MUTANT CELLS”

机译：“β-环糊精的内吞作用是导致Niemann-Pick型C突变细胞降低胆固醇的原因”

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We know that HPBCD has been designated by FDA as an orphan drug for the treatment of Niemann Pick Type C disease, the fatal lysosomal-storage disorder. In NPC disease cholesterol gets stuck in lysosomes due to lack of NPC1 and NPC2 proteins responsible for the cholesterol trafficking within the cells. The condition is set off by a mutation in the gene for NPC1 and causes spleen and liver problems, brain damage, difficulty in walking and swallowing, vision and hearing loss, and eventually death.

机译：我们知道，HPBCD已被FDA指定为治疗Niemann Pick C型疾病（致命的溶酶体储存障碍）的孤儿药。在NPC疾病中，由于缺乏NPC1和NPC2蛋白，胆固醇被困在溶酶体中，导致细胞内的胆固醇运输。该疾病是通过基因中的NPC1突变引起的，导致脾脏和肝脏问题，脑部损伤，步行和吞咽困难，视力和听力丧失以及最终死亡。

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来源
《Cyclodextrin news》 |2010年第6期|1-3|共3页
作者
Rosenbaum A.I.; Zhang G.; Warren J.D.;
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正文语种英语
中图分类世界政治概况;
关键词
Gene Mutation; Orphan Drug; EndocytosisLysosomesNPC1 genemaladjustmentCholesterolreductionbetadexAmbulation DifficultySpleen;

机译：基因突变;孤儿药;内吞作用性溶血体系列genemaladjustmentCholesterolredectuctauctionbetadexambulation reffercempleen;

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“ENDOCYTOSIS OF BETA-CYCLODEXTRINS IS RESPONSIBLE FOR CHOLESTEROL REDUCTION IN NIEMANN-PICK TYPE C MUTANT CELLS”

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