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 peroxisomal...

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Principais autores:	Quentin Raas, Austin Wood, Tamara J. Stevenson, Shanna Swartwood, Suzanne Liu, Rangaramanujam M. Kannan, Sujatha Kannan, Joshua L. Bonkowsky
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Frontiers Media S.A. 2024-01-01
סדרה:	Frontiers in Pediatrics
נושאים:	zebrafish ACOX1 Mitchell disease peroxisome leukodystrophy
גישה מקוונת:	https://www.frontiersin.org/articles/10.3389/fped.2024.1326886/full
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