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Article

Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 Oct 2025

Segur-Bailach Eulàlia, Mateu-Bosch Anna, Bofill-De Ros Xavier, Parés Marta, da Silva Buttkus Patricia, Rathkolb Birgit, Gailus-Durner Valérie, Hrabě de Angelis Martin, Moeini Pedram, Gonzalez-Aseguinolaza Gloria, Tort Frederic, Ribes Antonia, van Karnebeek Clara D M, García-Villoria Judit, Fillat Cristina

Abstract excerpt

Glutaric aciduria type I (GA1) is an inherited disorder caused by the enzymatic defect of glutaryl-coenzyme A dehydrogenase in the lysine degradation pathway, characterized by the accumulation of toxic metabolites in the central nervous system. We reasoned that substrate reduction therapy targeting the α-aminoadipic semialdehyde synthase (AASS), the first enzyme in the catabolism of lysine, could provide an...

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Identifiers

PMID: 40682274
DOI: 10.1016/j.ymthe.2025.07.022
PMCID: PMC12848188

Genes

AASS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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