Associated Papers
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
39859398 (PubMed )
Supplement: ijms-26-00684-s001.zip › 20241229_Table_S3.pdf
Serine and glycine physiology reversibly modulate retinal and peripheral nerve function.
Lim EW et al.
Cell Metabolism, 2024
iPSC-derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function.
Eade KT et al.
The Journal of Clinical Investigation, 2023
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K et al.
Nature Metabolism, 2021
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