ArticleNeurogenetics2016
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
Article in Neurogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 43 citations in OpenAlex.
- The return of metabolism: biochemistry and physiology of glycolysis.Biological reviews of the Cambridge Philosophical Society · 2026Review
- Deficiency of the NAD(P)HX metabolic repair system: a treatable mitochondrial disease.Orphanet journal of rare diseases · 2026Article
- Progressive encephalopathy associated with novel compound heterozygous NAXE mutations in a Chinese patient: case report and literature review.Frontiers in pediatrics · 2026Article
- Early-Onset Progressive Encephalopathy With Brain Oedema and/or Leukoencephalopathy 1:Sultan Qaboos University medical journal · 2026Article
- Article
- Phenotypic diversity in NAXE mutations.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.Cellular & molecular biology letters · 2025Article
- Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.NPJ genomic medicine · 2024Article
- Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.Indian journal of pediatrics · 2024Article
- Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report.Frontiers in neurology · 2024Article
- Article
- Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.Journal of inherited metabolic disease · 2022Review
- A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder.Molecular syndromology · 2022Article
- NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.Molecular genetics and metabolism · 2022Review
- NADEMBO molecular medicine · 2021Review
- NAD(P)HX epimerase downregulation promotes tumor progression through ROS/HIF-1α signaling in hepatocellular carcinoma.Cancer science · 2021Article
- Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.Journal of neurology · 2020Article
- Inborn errors of metabolite repair.Journal of inherited metabolic disease · 2020Review
- Regulation of lipid rafts, angiogenesis and inflammation by AIBP.Current opinion in lipidology · 2019Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Febrile-induced neurodegenerative diseases are a heterogeneous group of genetic disorders most commonly inborn errors of metabolism that result in irreversible damage involving the central nervous system. Here, we report on five siblings of consanguineous family who developed normally for the first 6-12 months of life then presented with a severe leukoencephalopathy following a trivial febrile illness. Using homozygosity mapping followed by whole exome sequencing, we identified a homozygous c. 281C>A mutation in the APOA1BP gene resulting in substitution of a highly conserved alanine residue with aspartic acid (p.Ala94Asp). APOA1BP encodes for epimerase that catalyzes the R to S epimerization of NAD(P)XH, a crucial step in the dehydration of these toxic metabolites accumulating during cellular metabolism. This is the first report of a defect in the nicotinamide nucleotide repair system in humans.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.