In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1

Hereditary tyrosinemia type 1 is an autosomal recessive disorder caused by mutations (pathogenic variants) in fumarylacetoacetate hydrolase, an enzyme involved in tyrosine degradation. Its loss results in the accumulation of toxic metabolites that mainly affect the liver and kidneys and can lead to...

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Veröffentlicht in:	Genetics (Austin) 2024-10, Vol.228 (2)
Hauptverfasser:	Rivest, Jean-François, Carter, Sophie, Goupil, Claudia, Antérieux, Pénélope, Cyr, Denis, Ung, Roth-Visal, Dal Soglio, Dorothée, Mac-Way, Fabrice, Waters, Paula J, Paganelli, Massimiliano, Doyon, Yannick
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals CRISPR-Cas Systems Disease Models, Animal Gene Editing - methods Genes, Modifier Hydrolases - genetics Investigation Liver - metabolism Mice Mutation Tyrosine - metabolism Tyrosinemias - genetics
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