ArticleNature metabolism2021
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Article in Nature metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 58 citations in OpenAlex.
- Macular Telangiectasia Type 2: A Case Series.Cureus · 2026Article
- Topographically Resolved Macular Pigment Optical Density Is Associated with Disease Progression in Macular Telangiectasia Type 2.Ophthalmology science · 2026Article
- Macular telangiectasia type 2: An update.The Journal of international medical research · 2026Review
- A Role for Astrocyte Metabolism in Species-Specific Neuronal Development.bioRxiv : the preprint server for biology · 2026Article
- Convergent human genetic evidence implicates serine biosynthesis in diabetic peripheral neuropathy.medRxiv : the preprint server for health sciences · 2026Article
- Is Macular Telangiectasia Type 2 Associated with Hearing Loss and Cochlear Dysfunction? A Prospective Case-Control Study.Diagnostics (Basel, Switzerland) · 2026Article
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- Results from a Phase I Extension Study of Ciliary Neurotrophic Factor in Patients with Macular Telangiectasia Type 2.Ophthalmology science · 2026Article
- Müller cell markers in aqueous humor of patients with type-2 macular telangiectasia.Indian journal of ophthalmology · 2026Article
- A phosphoserine phosphatase variant present in the brain of Alzheimer's disease patients favors nuclear mistargeting.The FEBS journal · 2025Article
- Exome analysis links kidney malformations to developmental disorders and reveals causal genes.Nature communications · 2025Article
- YY2 mediates transcriptional repression of PHGDH and expedites oxidative stress in retinal pigment epithelial cells in diabetic retinopathy.Journal of diabetes investigation · 2025Article
- Genetic Background of Macular Telangiectasia Type 2.International journal of molecular sciences · 2025Review
- Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives.Pharmaceutics · 2025Review
- Serine supplementation suppresses hypoxia-induced pathological retinal angiogenesis.Theranostics · 2025Article
- Macular telangiectasia type 2 in a patient with Down syndrome: A possible association.American journal of ophthalmology case reports · 2024Article
- Therapeutic Effects of Taurine and Histidine Supplementation in Retinal Diseases.Life (Basel, Switzerland) · 2024Review
- ASCT2 is a major contributor to serine uptake in cancer cells.Cell reports · 2024Article
- Review
- High-throughput ultrastructural analysis of macular telangiectasia type 2.Frontiers in ophthalmology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 5 institutions in 1 country.
Funding
Abstract
Macular telangiectasia type 2 (MacTel) is a progressive, late-onset retinal degenerative disease linked to decreased serum levels of serine that elevate circulating levels of a toxic ceramide species, deoxysphingolipids (deoxySLs); however, causal genetic variants that reduce serine levels in patients have not been identified. Here we identify rare, functional variants in the gene encoding the rate-limiting serine biosynthetic enzyme, phosphoglycerate dehydrogenase (PHGDH), as the single locus accounting for a significant fraction of MacTel. Under a dominant collapsing analysis model of a genome-wide enrichment analysis of rare variants predicted to impact protein function in 793 MacTel cases and 17,610 matched controls, the PHGDH gene achieves genome-wide significance (P = 1.2 × 10
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.