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

doi:10.1016/j.neuron.2020.02.021

Article

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

Neuron - 20 May 2020

Chung Hyung-Lok, Wangler Michael F, Marcogliese Paul C, Jo Juyeon, Ravenscroft Thomas A, Zuo Zhongyuan, Duraine Lita, Sadeghzadeh Sina, Li-Kroeger David, Schmidt Robert E, Pestronk Alan, Rosenfeld Jill A, Burrage Lindsay, Herndon Mitchell J, Chen Shan, Shillington Amelle, Vawter-Lee Marissa, Hopkin Robert, Rodriguez-Smith Jackeline, Henrickson Michael, Lee Brendan, Moser Ann B, Jones Richard O, Watkins Paul, Yoo Taekyeong, Mar Soe, Choi Murim, Bucelli Robert C, Yamamoto Shinya, Lee Hyun Kyoung, Prada Carlos E, Chae Jong-Hee, Vogel Tiphanie P, Bellen Hugo J

Abstract excerpt

ACOX1 (acyl-CoA oxidase 1) encodes the first and rate-limiting enzyme of the very-long-chain fatty acid (VLCFA) β-oxidation pathway in peroxisomes and leads to H2O2 production. Unexpectedly, Drosophila (d) ACOX1 is mostly expressed and required in glia, and loss of ACOX1 leads to developmental delay, pupal death, reduced lifespan, impaired synaptic transmission, and glial and axonal loss. Patients who carry a...

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

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