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Article

Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.

Nature metabolism - 1 Mar 2021

Eade Kevin, Gantner Marin L, Hostyk Joseph A, Nagasaki Takayuki, Giles Sarah, Fallon Regis, Harkins-Perry Sarah, Baldini Michelle, Lim Esther W, Scheppke Lea, Dorrell Michael I, Cai Carolyn, Baugh Evan H, Wolock Charles J, Wallace Martina, Berlow Rebecca B, Goldstein David B, Metallo Christian M, Friedlander Martin, Allikmets Rando

Abstract excerpt

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...

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Identifiers

PMID: 33758422
DOI: 10.1038/s42255-021-00361-3
PMCID: PMC8084205

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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