Article
Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities.
Molecular genetics and metabolism - 1 Jan 2000
Takashima Shigeo, Fujita Haruka, Toyoshi Kayoko, Ohba Akiko, Hirata Yoko, Shimozawa Nobuyuki, Oh-Hashi Kentaro
Abstract excerpt
Impaired peroxisome assembly caused by mutations in PEX genes results in a human congenital metabolic disease called Zellweger spectrum disorder (ZSD), which impacts the development and physiological function of multiple organs. In this study, we revealed a long-standing problem of heterogeneous peroxisome distribution among cell population, so called "peroxisomal mosaicism", which appears in patients with mild...
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