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Article

Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant.

Scientific reports - 12 Dec 2025

Bik-Multanowski Miroslaw, Bobis-Wozowicz Sylwia, Piejko Marcin, Madetko-Talowska Anna, Szewczyk Katarzyna, Kopaczka-Koziol Kinga, Lasota Slawomir, Jankowska Urszula, Skupien-Rabian Bozena, Korycinska-Chaaban Dorota, Krzywdzinska-Rogowska Amanda, Steinlein Ortrud K

Abstract excerpt

Treatment in phenylketonuria is based on using a diet aimed at protecting the brain from uncontrolled hyperphenylalaninemia. Although treatment methods are well established, clinical outcomes vary among patients. This may be due to alterations of phenylalanine transport mediated by the amino acid transporter LAT1, which also regulates the function of the mTORC1/proteasomal pathway. We investigated the clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41387948
DOI: 10.1038/s41598-025-31622-w
PMCID: PMC12706028

Genes

SLC7A5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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