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Tissue Inhibitor of Metalloproteinase 3 (TIMP3) mutations increase glycolytic activity and dysregulate glutamine metabolism in RPE cells.

Molecular metabolism - 1 Oct 2024

Grenell Allison, Singh Charandeep, Raju Monisha, Wolk Alyson, Dalvi Sonal, Jang Geeng-Fu, Crabb John S, Hershberger Courtney E, Manian Kannan V, Hernandez Karen, Crabb John W, Singh Ruchira, Du Jianhai, Anand-Apte Bela

Abstract excerpt

OBJECTIVES: Mutations in Tissue Inhibitor of Metalloproteinases 3 (TIMP3) cause Sorsby's Fundus Dystrophy (SFD), a dominantly inherited, rare form of macular degeneration that results in vision loss. TIMP3 is synthesized primarily by retinal pigment epithelial (RPE) cells, which constitute the outer blood-retinal barrier. One major function of RPE is the synthesis and transport of vital nutrients, such as...

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Identifiers

PMID: 39047907
DOI: 10.1016/j.molmet.2024.101995
PMCID: PMC11344013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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