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...

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Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado:	Nature Portfolio 2023-08-01
Series:	Communications Biology
Acceso en liña:	https://doi.org/10.1038/s42003-023-05268-1
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