NAXE disruption causes neurometabolic and mitochondrial disorder — ARCADIA Knowledge Graph

Association·arcadia

NAXE disruption causes neurometabolic and mitochondrial disorder

Claim that biallelic mutations or deficiency in NAXE causes a lethal neurometabolic and mitochondrial encephalopathy disorder by impairing NAD(P)HX repair.

Confidence
100%
active

Evidence Quote

“NAXE deficiency causes NAXE-related mitochondrial encephalopathy”

Relationship

NAXE protein causes NAXE-related neurometabolic/mitochondrial disorder

Arguments

NAXE proteinsubject
NAXE-related neurometabolic/mitochondrial disorderobject

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