Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.
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| Title: | Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1. |
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| Authors: | Saad C; Medical Faculty of Heidelberg, Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, 69120, Heidelberg, Germany., Jung-Klawitter S; Medical Faculty of Heidelberg, Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, 69120, Heidelberg, Germany. Sabine.Jung-Klawitter@med.uni-heidelberg.de., Dimitrov B; Medical Faculty of Heidelberg, Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, 69120, Heidelberg, Germany., Aguilar-Pimentel JA; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany., Becker L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany., da Silva-Buttkus P; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany., Dragano NRV; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.; German Center for Diabetes Research (DZD), 85764, Neuherberg, Germany., Garrett L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany., Hölter SM; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany., Rathkolb B; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.; German Center for Diabetes Research (DZD), 85764, Neuherberg, Germany.; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig- Maximilians-Universität München, 81377, Munich, Germany., Sanz-Moreno A; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany., Spielmann N; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany., Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany., Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany., Schaaf CP; Institute of Human Genetics, Heidelberg University, 69120, Heidelberg, Germany., la Marca G; Newborn Screening Clinical Biochemistry and Clinical Pharmacy Laboratory, Department of Neuroscience and Medical Genetics Meyer Children's Hospital IRCCS, Florence, 50139, Italy.; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy., Damiano R; Newborn Screening Clinical Biochemistry and Clinical Pharmacy Laboratory, Department of Neuroscience and Medical Genetics Meyer Children's Hospital IRCCS, Florence, 50139, Italy., Lefeber DJ; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Engelke U; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., de Angelis MH; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.; German Center for Diabetes Research (DZD), 85764, Neuherberg, Germany.; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, 85354, Freising, Germany., Houten SM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA., Kölker S; Medical Faculty of Heidelberg, Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, 69120, Heidelberg, Germany. |
| Corporate Authors: | CHARLIE Consortium |
| Source: | Scientific reports [Sci Rep] 2026 Mar 31; Vol. 16 (1). Date of Electronic Publication: 2026 Mar 31. |
| 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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| ISSN: | 2045-2322 |
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| DOI: | 10.1038/s41598-026-44377-9 |
