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

• Main Authors: Quentin Raas (Author), Austin Wood (Author), Tamara J. Stevenson (Author), Shanna Swartwood (Author), Suzanne Liu (Author), Rangaramanujam M. Kannan (Author), Sujatha Kannan (Author), Joshua L. Bonkowsky (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 peroxisomal...