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Article

Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked FMR1 Gene.

International journal of molecular sciences - 30 May 2021

Nolin Sarah L, Napoli Eleonora, Flores Amanda, Hagerman Randi J, Giulivi Cecilia

Abstract excerpt

Fifty-five to two hundred CGG repeats (called a premutation, or PM) in the 5'-UTR of the FMR1 gene are generally unstable, often expanding to a full mutation (>200) in one generation through maternal inheritance, leading to fragile X syndrome, a condition associated with autism and other intellectual disabilities. To uncover the early mechanisms of pathogenesis, we performed metabolomics and proteomics on...

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Identifiers

PMID: 34070950
DOI: 10.3390/ijms22115886
PMCID: PMC8198117

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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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