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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.
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
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  Data: <searchLink fieldCode="AU" term="%22Bik-Multanowski+M%22">Bik-Multanowski M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bobis-Wozowicz+S%22">Bobis-Wozowicz S</searchLink>; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Department of Cell Biology, Krakow, Poland.<br /><searchLink fieldCode="AU" term="%22Piejko+M%22">Piejko M</searchLink>; Jagiellonian University Medical College, Krakow, Poland.<br /><searchLink fieldCode="AU" term="%22Madetko-Talowska+A%22">Madetko-Talowska A</searchLink>; Department of Medical Genetics, Jagiellonian University Medical College, Krakow, Poland.<br /><searchLink fieldCode="AU" term="%22Szewczyk+K%22">Szewczyk K</searchLink>; Department of Medical Genetics, Jagiellonian University Medical College, Krakow, Poland.<br /><searchLink fieldCode="AU" term="%22Kopaczka-Koziol+K%22">Kopaczka-Koziol K</searchLink>; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Department of Cell Biology, Krakow, Poland.<br /><searchLink fieldCode="AU" term="%22Lasota+S%22">Lasota S</searchLink>; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Department of Cell Biology, Krakow, Poland.<br /><searchLink fieldCode="AU" term="%22Jankowska+U%22">Jankowska U</searchLink>; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Proteomics Core Facility, Krakow, Poland.; Jagiellonian University, Malopolska Centre of Biotechnology, Krakow, Poland.<br /><searchLink fieldCode="AU" term="%22Skupien-Rabian+B%22">Skupien-Rabian B</searchLink>; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Proteomics Core Facility, Krakow, Poland.; Jagiellonian University, Malopolska Centre of Biotechnology, Krakow, Poland.<br /><searchLink fieldCode="AU" term="%22Korycinska-Chaaban+D%22">Korycinska-Chaaban D</searchLink>; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Krzywdzinska-Rogowska+A%22">Krzywdzinska-Rogowska A</searchLink>; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Steinlein+OK%22">Steinlein OK</searchLink>; Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany.
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  Data: <searchLink fieldCode="JN" term="%22101563288%22">Scientific reports</searchLink> [Sci Rep] 2025 Dec 12; Vol. 15 (1), pp. 43813. <i>Date of Electronic Publication: </i>2025 Dec 12.
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              Text: 2025 Dec 12
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