A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Abstract Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid oxidation disorder (FAOD) caused by a pathogenic variant, c.1528 G > C, in HADHA encoding the alpha subunit of trifunctional protein (TFPα). Individuals with LCHADD develop chorioretinopathy and peripheral neurop...

Celý popis

Podrobná bibliografie

Hlavní autoři:	Garen Gaston, Shannon Babcock, Renee Ryals, Gabriela Elizondo, Tiffany DeVine, Dahlia Wafai, William Packwood, Sarah Holden, Jacob Raber, Jonathan R. Lindner, Mark E. Pennesi, Cary O. Harding, Melanie B. Gillingham
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2023-08-01
Edice:	Communications Biology
On-line přístup:	https://doi.org/10.1038/s42003-023-05268-1
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!