@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, antioxidant NACA, axonal dystrophy, Drosophila, fatty acid peroxidation, NACA, ROS, Schwann cells, 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.}",
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",
}