Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant.
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| Title: | Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant. |
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| Authors: | Bik-Multanowski M; Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany. miroslaw.bikmultanowski@med.uni-muenchen.de.; Department of Medical Genetics, Jagiellonian University Medical College, Krakow, Poland. miroslaw.bikmultanowski@med.uni-muenchen.de., Bobis-Wozowicz S; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Department of Cell Biology, Krakow, Poland., Piejko M; Jagiellonian University Medical College, Krakow, Poland., Madetko-Talowska A; Department of Medical Genetics, Jagiellonian University Medical College, Krakow, Poland., Szewczyk K; Department of Medical Genetics, Jagiellonian University Medical College, Krakow, Poland., Kopaczka-Koziol K; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Department of Cell Biology, Krakow, Poland., Lasota S; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Department of Cell Biology, Krakow, Poland., Jankowska U; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Proteomics Core Facility, Krakow, Poland.; Jagiellonian University, Malopolska Centre of Biotechnology, Krakow, Poland., Skupien-Rabian B; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Proteomics Core Facility, Krakow, Poland.; Jagiellonian University, Malopolska Centre of Biotechnology, Krakow, Poland., Korycinska-Chaaban D; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland., Krzywdzinska-Rogowska A; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland., Steinlein OK; Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany. |
| Source: | Scientific reports [Sci Rep] 2025 Dec 12; Vol. 15 (1), pp. 43813. Date of Electronic Publication: 2025 Dec 12. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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