Fylo›ARCADIA›Graph
Hubs
Association·arcadia

NAXE loss disrupts NAD(P)HX repair system

Claim that loss or mutations of NAXE impair the NAD(P)HX repair system, causing neurometabolic disorders.

Confidence
100%
active

Evidence Quote

“NAXE mutations disrupt the NAD(P)HX repair system in mammals”

Relationship

NAXE protein disrupts NAD(P)HX repair system

Arguments

NAXE proteinsubject
NAD(P)HX repair systemobject

Connections (3)

NAXE mutations impair NAD(P)HX repair and cause neurometabolic disorderInferenceChain
SMN1 protein mutation causes SMAAssociation
NAD(P)HX repair system conservation and relevance across speciesInferenceChain

Evidence

“Evidence combining multiple studies that NAXE mutations impair the cellular NAD(P)HX repair system, causing lethal neurometabolic disorders in humans.”

Kremer LS et al. (2016). NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood doi:10.1016/j.ajhg.2016.07.018 ↗

“Evidence from Manor et al. (2022) that NAXE deficiency is a neurometabolic disease of NAD(P)HX repair, amenable to metabolic correction.”

Manor J et al. (2022). NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction doi:10.1016/j.ymgme.2022.04.003 ↗

“Evidence from Ozaki et al. (2024) of a biallelic GGGCC repeat in NAXE causing NAXE-related mitochondrial encephalopathy.”

Ozaki K et al. (2024). Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy doi:10.1038/s41525-024-00429-5 ↗