Generation and characterization of a zebrafish gain-of-function ACOX1 Mitchell disease model

Generation and characterization of a zebrafish gain-of-function ACOX1 Mitchell disease model

BackgroundMitchell syndrome is a rare, neurodegenerative disease caused by an ACOX1 gain-of-function mutation (c.710A>G; p.N237S), with fewer than 20 reported cases. Affected patients present with leukodystrophy, seizures, and hearing loss. ACOX1 serves as the rate-limiting enzyme in peroxiso...

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Bibliographic Details
Main Authors: Quentin Raas, Austin Wood, Tamara J. Stevenson, Shanna Swartwood, Suzanne Liu, Rangaramanujam M. Kannan, Sujatha Kannan, Joshua L. Bonkowsky
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Pediatrics
Subjects:
zebrafish
ACOX1
Mitchell disease
peroxisome
leukodystrophy
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1326886/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2024.1326886/full

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