Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells
Taken together, our study identifies a metabolic vulnerability in NAXD-deficient cells that can be targeted by small molecules such as NR or inosine, opening perspectives in the search for mechanism-based therapeutic interventions in PEBEL disorders.
Authors
- Nicole J. Van Bergen (ORCID: https://orcid.org/0000-0002-6768-3665)
- Bruno Santos (ORCID: https://orcid.org/0000-0002-8849-576X)
- Adhish S. Walvekar (ORCID: https://orcid.org/0000-0001-7344-7653)
- Floriane Gavotto (ORCID: https://orcid.org/0000-0001-9793-3680)
- Sebastián Perrone (ORCID: https://orcid.org/0000-0002-1219-6579)
- Yong‐Jun Kwon (ORCID: https://orcid.org/0000-0002-7249-3014)
- Julia Becker‐Kettern (ORCID: https://orcid.org/0009-0008-5424-3274)
- Marc O. Warmoes (ORCID: https://orcid.org/0000-0002-6632-3764)
- John Christodoulou (ORCID: https://orcid.org/0000-0002-8431-0641)
- F.M. Unger (ORCID: https://orcid.org/0009-0001-1236-6283)
- Carole L. Linster (ORCID: https://orcid.org/0000-0001-7143-0719)
- Lisa Dengler (ORCID: https://orcid.org/0009-0002-4581-9717)
- Jens C. Schwamborn (ORCID: https://orcid.org/0000-0003-4496-0559)
- Tim Sikora (ORCID: https://orcid.org/0000-0002-7445-9207)
- Gemma Gomez‐Giro (ORCID: https://orcid.org/0000-0002-7259-5002)
- Christian Jäger (ORCID: https://orcid.org/0000-0003-4235-7430)
- Dean Cheung (ORCID: https://orcid.org/0009-0005-5890-2140)
- Xiangyi Dong (ORCID: https://orcid.org/0009-0003-6108-0016)
- Najmesadat Seyedkatouli
Institutions
- Royal Children's Hospital (AU)
- The University of Melbourne (AU)
- University of Luxembourg (LU)
- Luxembourg Institute of Health (LU)
- Victorian Clinical Genetics Services (AU)
- Murdoch Children's Research Institute (AU)
Publication Details
- Journal
- Cellular & Molecular Biology Letters
- Published
- 2025-01-09
- DOI
- https://doi.org/10.1186/s11658-024-00681-8
- Citations
- 3
- Primary Topic
- Amino Acid Enzymes and Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 3.34
Funders
- Indian Institute of Science
- Children’s Hospital of Wisconsin Research Institute
- Children's Hospital Foundation
- Murdoch Children's Research Institute
- Royal Children's Hospital Foundation
- Australian Government
- Fonds National de la Recherche Luxembourg
- Novo Nordisk
- State Government of Victoria
- Indian Institute of Science Education and Research Pune
- Novo Nordisk Fonden
- Indian Institute of Science Education and Research Mohali
- Mito Foundation