Llwytho...
The Extending Spectrum of NPC1-Related Human Disorders: From Niemann–Pick C1 Disease to Obesity
The Niemann–Pick type C1 (NPC1) protein regulates the transport of cholesterol and fatty acids from late endosomes/lysosomes and has a central role in maintaining lipid homeostasis. NPC1 loss-of-function mutations in humans cause NPC1 disease, a rare autosomal-recessive lipid-storage disorder charac...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Endocr Rev |
|---|---|
| Prif Awduron: | , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Endocrine Society
2018
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5888214/ https://ncbi.nlm.nih.gov/pubmed/29325023 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/er.2017-00176 |
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