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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.
Mohammadi P et al.
Acta Neurologica Belgica, 2022
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
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Manor J et al.
Molecular Genetics and Metabolism, 2022
NAD+ homeostasis in human health and disease.
Zapata-Pérez R et al.
Embo Molecular Medicine, 2021
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Trinh J et al.
Journal of Neurology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
Spiegel R et al.
Neurogenetics, 2016
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