نتایج جستجو برای: pick type c

تعداد نتایج: 2248990  

Journal: :International Journal of Molecular Sciences 2018

Journal: :iranian biomedical journal 0
معصومه افضلی masoumeh afzali علیرضا نخعی alireza nakhaee سید پیمان طباطبایی seyed payman tabatabaei کوروش تیرگر فاخری kourosh tirgar-fakheri محمد هاشمی mohammad hashemi

background: the protein of niemann-pick type c1 (npc1) gene promotes the egress of cholesterol from late endosomes and lysosomes to other cellular compartments and contributes to a process known as reverse cholesterol transport. this study aimed to examine whether promoter methylation of npc1 is associated with risk of cardiovascular disease (cvd). methods: fifty cvd patients and 50 healthy sub...

Journal: :Cell reports 2013
Sovan Sarkar Bernadette Carroll Yosef Buganim Dorothea Maetzel Alex H M Ng John P Cassady Malkiel A Cohen Souvik Chakraborty Haoyi Wang Eric Spooner Hidde Ploegh Joerg Gsponer Viktor I Korolchuk Rudolf Jaenisch

Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear. Here, we show defective autophagy in Niemann-Pick type C1 (NPC1) disease associated with cholesterol accumulation, where the maturation of autophagosomes is impaired becau...

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