Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Members of Undiagnosed Diseases Network

doi:10.1016/j.neuron.2020.02.021

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Members of Undiagnosed Diseases Network

Research output: Contribution to journal › Article › peer-review

114 Scopus citations

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.

Original language	English
Pages (from-to)	589-606.e6
Journal	Neuron
Volume	106
Issue number	4
DOIs	https://doi.org/10.1016/j.neuron.2020.02.021
State	Published - May 20 2020

Keywords

ACOX1 deficiency
Drosophila
NACA
ROS
Schwann cells
antioxidant NACA
axonal dystrophy
fatty acid peroxidation
very long chain fatty acids
wrapping glia

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10.1016/j.neuron.2020.02.021

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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",

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AU - Members of Undiagnosed Diseases Network

AU - Chung, Hyung lok

AU - Wangler, Michael F.

AU - Marcogliese, Paul C.

AU - Jo, Juyeon

AU - Ravenscroft, Thomas A.

AU - Zuo, Zhongyuan

AU - Duraine, Lita

AU - Sadeghzadeh, Sina

AU - Li-Kroeger, David

AU - Schmidt, Robert E.

AU - Pestronk, Alan

AU - Rosenfeld, Jill A.

AU - Burrage, Lindsay

AU - Herndon, Mitchell J.

AU - Chen, Shan

AU - Shillington, Amelle

AU - Vawter-Lee, Marissa

AU - Hopkin, Robert

AU - Rodriguez-Smith, Jackeline

AU - Henrickson, Michael

AU - Lee, Brendan

AU - Moser, Ann B.

AU - Jones, Richard O.

AU - Watkins, Paul

AU - Yoo, Taekyeong

AU - Mar, Soe

AU - Choi, Murim

AU - Bucelli, Robert C.

AU - Yamamoto, Shinya

AU - Lee, Hyun Kyoung

AU - Prada, Carlos E.

AU - Chae, Jong Hee

AU - Vogel, Tiphanie P.

AU - Bellen, Hugo J.

PY - 2020/5/20

Y1 - 2020/5/20

N2 - 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.

AB - 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.

KW - ACOX1 deficiency

KW - Drosophila

KW - NACA

KW - ROS

KW - Schwann cells

KW - antioxidant NACA

KW - axonal dystrophy

KW - fatty acid peroxidation

KW - very long chain fatty acids

KW - wrapping glia

UR - https://www.scopus.com/pages/publications/85084459329

U2 - 10.1016/j.neuron.2020.02.021

DO - 10.1016/j.neuron.2020.02.021

M3 - Article

C2 - 32169171

AN - SCOPUS:85084459329

SN - 0896-6273

VL - 106

SP - 589-606.e6

JO - Neuron

JF - Neuron

IS - 4

ER -

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Abstract

Keywords

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