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By Yasuyo Okada, Sayako Kuroiwa, Ayaka Noi, Ayaka Tanaka, Junichi Nishikawa, Yuki Kondo, Yoichi Ishitsuka, Tetsumi Irie, Katsumi Higaki, Muneaki Matsuo, Atsushi Ichikawa
Publikováno v:
Molecular genetics and metabolism. 137(3)
Niemann-Pick disease Type C (NPC) is a lysosomal storage disorder caused by mutation of the NPC1/NPC2 genes, which ultimately results in the accumulation of unesterified cholesterol (UEC) in lysosomes, thereby inducing symptoms such as progressive ne