한빛사 논문
Yooju Jung1,‡ Seung-Eun Lee2,‡ Insung Kang2 Sung Min Cho1 Kyung-Sun Kang2 Ho Jeong Kwon1
1Chemical Genomics Leader Research Laboratory, Department of Biotechnology, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea
2Adult Stem Cell Research Center and Research Institute for Veterinary Science, College of Veterinary Medicine, Seoul National University, Seoul, Republic of Korea
Correspondence: Ho Jeong Kwon Kyung-Sun Kang
‡These authors contributed equally to this work.
Abstract
Niemann-Pick Type C disease (NPC) is a rare fatal neurodegenerative disorder caused by mutations in the NPC1 or NPC2 gene,1 leading to abnormal accumulation of non-esterified cholesterol in lysosomes. Defective autophagy caused by the failure of autolysosome formation composed of SNARE machinery2 has been reported in NPC disease and synaptosomal-associated protein 25 (SNAP25) has been highlighted as one of the important components of SNARE machinery.3, 4 Currently, there are no Food and Drug Administration (FDA)-approved treatments and a recent study shows that histone deacetylase (HDAC) inhibitors may be promising therapeutics for NPC disease.5
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