The Extending Spectrum of NPC1-Related Human Disorders: From Niemann–Pick C1 Disease to Obesity
نویسندگان
چکیده
منابع مشابه
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متن کاملPulmonary Abnormalities in Animal Models Due to Niemann-Pick Type C1 (NPC1) or C2 (NPC2) Disease
Niemann-Pick C (NPC) disease is due to loss of NPC1 or NPC2 protein function that is required for unesterified cholesterol transport from the endosomal/lysosomal compartment. Though lung involvement is a recognized characteristic of Niemann-Pick type C disease, the pathological features are not well understood. We investigated components of the surfactant system in both NPC1 mutant mice and fel...
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ژورنال
عنوان ژورنال: Endocrine Reviews
سال: 2018
ISSN: 0163-769X,1945-7189
DOI: 10.1210/er.2017-00176