Associated Papers
Deficiency of the NAD(P)HX metabolic repair system: a treatable mitochondrial disease.
Xu C et al.
Orphanet Journal of Rare Diseases, 2026
Progressive encephalopathy associated with novel compound heterozygous NAXE mutations in a Chinese patient: case report and literature review.
Zhu Y et al.
Frontiers in Pediatrics, 2026
AIBP: A New Safeguard against Glaucomatous Neuroinflammation.
Choi S et al.
Cells, 2024
De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report.
Ding L et al.
World Journal of Clinical Cases, 2023
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.
Van Bergen NJ et al.
Journal of Inherited Metabolic Disease, 2022
35866541 (PubMed )
Supplement: JIMD-45-1028-s001.xlsx › Sheet2
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Maalej M et al.
Neurogenetics, 2022
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Manor J et al.
Molecular Genetics and Metabolism, 2022
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Trinh J et al.
Journal of Neurology, 2020
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