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Article

A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.

Journal of inherited metabolic disease - 1 Jul 2020

Sirr Amy, Lo Russell S, Cromie Gareth A, Scott Adrian C, Ashmead Julee, Heyesus Mirutse, Dudley Aimée M

Abstract excerpt

Defects in serine biosynthesis resulting from loss of function mutations in PHGDH, PSAT1, and PSPH cause a set of rare, autosomal recessive diseases known as Neu-Laxova syndrome (NLS) or serine-deficiency disorders. The diseases present with a broad range of phenotypes including lethality, severe neurological manifestations, seizures, and intellectual disability. However, because L-serine supplementation,...

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Identifiers

PMID: 32077105
DOI: 10.1002/jimd.12227
PMCID: PMC7444316

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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