Article
Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown.
Neuroreport - 4 Jul 2018
Kushimura Yukie, Azuma Yumiko, Mizuta Ikuko, Muraoka Yuuka, Kyotani Akane, Yoshida Hideki, Tokuda Takahiko, Mizuno Toshiki, Yamaguchi Masamitsu
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, and more than 80 CMT-causing genes have been identified to date. CMT4J is caused by a loss-of-function mutation in the Factor-Induced-Gene 4 (FIG4) gene, the product of which plays important roles in endosome-lysosome homeostasis. We hypothesized that Mammalian sterile 20-like kinase (MST) 1 and 2, tumor-suppressor genes, are candidate...
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