@article{6a924373c1ab4994a8dd34c65d41497b,
title = "Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms",
abstract = "Chung et al. show that ACOX1, a peroxisomal protein required for degrading VLCFA, is mostly expressed in glial cells. Its loss causes an accumulation of VLCFA and glial loss. An ACOX1 gain-of-function mutation identified in three individuals leads to elevated ROS and glial loss and is potently suppressed by antioxidants.",
keywords = "ACOX1 deficiency, Drosophila, NACA, ROS, Schwann cells, antioxidant NACA, axonal dystrophy, fatty acid peroxidation, very long chain fatty acids, wrapping glia",
author = "\{Members of Undiagnosed Diseases Network\} and Chung, \{Hyung lok\} and Wangler, \{Michael F.\} and Marcogliese, \{Paul C.\} and Juyeon Jo and Ravenscroft, \{Thomas A.\} and Zhongyuan Zuo and Lita Duraine and Sina Sadeghzadeh and David Li-Kroeger and Schmidt, \{Robert E.\} and Alan Pestronk and Rosenfeld, \{Jill A.\} and Lindsay Burrage and Herndon, \{Mitchell J.\} and Shan Chen and Amelle Shillington and Marissa Vawter-Lee and Robert Hopkin and Jackeline Rodriguez-Smith and Michael Henrickson and Brendan Lee and Moser, \{Ann B.\} and Jones, \{Richard O.\} and Paul Watkins and Taekyeong Yoo and Soe Mar and Murim Choi and Bucelli, \{Robert C.\} and Shinya Yamamoto and Lee, \{Hyun Kyoung\} and Prada, \{Carlos E.\} and Chae, \{Jong Hee\} and Vogel, \{Tiphanie P.\} and Bellen, \{Hugo J.\}",
note = "Publisher Copyright: {\textcopyright} 2020",
year = "2020",
month = may,
day = "20",
doi = "10.1016/j.neuron.2020.02.021",
language = "English",
volume = "106",
pages = "589--606.e6",
journal = "Neuron",
issn = "0896-6273",
number = "4",
}