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Article

Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency.

Journal of inherited metabolic disease - 1 Mar 2026

Patraskaki Myrto, Seyedkatouli Najmesadat, Schlicker Lisa, Warmoes Marc O, Cordero-Maldonado Maria Lorena, Heins-Marroquin Ursula, Linster Carole L

Abstract excerpt

The vital cofactors NADH and NADPH are prone to hydration, forming hydroxylated redox-inactive derivatives (NADHX and NADPHX) in cells. These damaged metabolites are repaired by two highly conserved enzymes, an NAD(P)HX dehydratase (NAXD) and an NAD(P)HX epimerase (NAXE). Mutations in NAXE or NAXD cause early onset progressive encephalopathy (PEBEL1 or PEBEL2), typically induced by fever or other triggers, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41621837
DOI: 10.1002/jimd.70149
PMCID: PMC12861718

Genes

NAXD
NAXE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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