نتایج جستجو برای: pick c
تعداد نتایج: 1066027 فیلتر نتایج به سال:
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...
how to cite this article: rezayi ar. vitamin e and niemann–pick disease type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 23. pls see pdf.
Egress of lipoprotein-derived cholesterol from lysosomes requires two lysosomal proteins, polytopic membrane-bound Niemann-Pick C1 (NPC1) and soluble Niemann-Pick C2 (NPC2). The reason for this dual requirement is unknown. Previously, we showed that the soluble luminal N-terminal domain (NTD) of NPC1 (amino acids 25-264) binds cholesterol. This NTD is designated NPC1(NTD). We and others showed ...
background: c-reactive protein (crp) can be increased after hormonal stimulations. the changes of crp might affect the success of in-vitro fertilization (ivf). objective: the aim of this study was to determine the possible relationship between the serum crp level and outcome of controlled ovarian stimulation, and pregnancy rate in patients undergoing ivf or intra cytoplasmic sperm injection (ic...
...................................................................................................................... 9 INTRODUCTION........................................................................................................... 11 Dissertation Format ....................................................................................................... 15 PRESENT STUDY................
Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in bone marrow. Confirmatory investigations were prompted by experience of the first case.
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