Localization of Niemann-Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann- Pick type C disease
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چکیده
منابع مشابه
Aberrant Promoter Methylation Profile of Niemann-Pick Type C1 Gene in Cardiovascular Disease
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...
متن کاملNiemann-Pick type C disease.
A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal fo...
متن کامل[Niemann-Pick disease (type C)].
A 15-year old girl with slowly progressive gait and speech disorders, and with impairment of mental ability, is decsribed. The disease appeared 18 months before the first hospitalization at the Department of Neurology and Physchiatry for Children and Young People. Neurological and other examinations confirmed extrapyramidal and cerebellar signs, conspisuous knee and ankle reflexes, marked splen...
متن کاملNiemann-Pick disease type C
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system. Approximatively 95% of patients have mutations in the NPC1 gene (mapped at 18q11) which encodes a large membran...
متن کاملNiemann-Pick C1
So what does NPC1 really do? This is the key question. NPC1 shares significant structural homology with the resistance–nodulation–division (RND) family of permeases, members of which transport a number of substrates including heavy metals and lipids. Like its prokaryotic counterparts, NPC1 appears to transport fatty acids, but has not yet been shown to transport cholesterol. It has been suggest...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1999
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.96.4.1657