Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1

Abstract Glutaric aciduria type 1 is caused by inherited deficiency of glutaryl-CoA dehydrogenase and subsequent accumulation of neurotoxic metabolites. Clinically, the disease is characterized by striatal damage and dystonic movement disorder in untreated infants. Despite newborn screening and pre-...

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Autors principals:	Celine Saad, Sabine Jung-Klawitter, Bianca Dimitrov, Juan Antonio Aguilar-Pimentel, Lore Becker, Patricia da Silva-Buttkus, Nathalia R. V. Dragano, Lillian Garrett, Sabine M. Hölter, Birgit Rathkolb, Adrián Sanz-Moreno, Nadine Spielmann, Helmut Fuchs, Valerie Gailus-Durner, Christian P. Schaaf, Giancarlo la Marca, Roberta Damiano, Dirk J. Lefeber, Udo Engelke, the CHARLIE Consortium, Martin Hrabe de Angelis, Sander M. Houten, Stefan Kölker
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2026-03-01
Col·lecció:	Scientific Reports
Matèries:	Glutaric aciduria type 1 Glutaric acid Aminoadipate-semialdehyde synthetase Glutaryl-CoA dehydrogenase
Accés en línia:	https://doi.org/10.1038/s41598-026-44377-9
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