ArticleNature genetics2012
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 4 of them syntheses that pooled it.
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Who cites it
95 citing papers in PubMed, 4 syntheses or guidelines pooled it, 235 citations in OpenAlex.
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Associations between genetic polymorphisms of membrane transporter genes and prognosis after chemotherapy: meta-analysis and finding from Seoul Breast Cancer Study (SEBCS).The pharmacogenomics journal · 2018Pooled it
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Journal of inherited metabolic disease · 2015Pooled it
- Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.PLoS genetics · 2013Pooled it
- Evolutionary Conservation and Reproductive Expression of ABC Transporter Genes in Two Sphenomorphus Skinks.Integrative zoology · 2026Article
- Structural basis for LMBD1-dependent trafficking and cobalamin export of ABCD4.Nature communications · 2026Article
- Integrating GWAS and eQTL analysis to decipher genetic mechanisms of feed efficiency and feeding behaviors in pigs.Genetics, selection, evolution : GSE · 2026Article
- Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives.Frontiers in nutrition · 2026Review
- Targeting the BCKDK/BCLAF1/MYC/HK2 axis to alter aerobic glycolysis and overcome Trametinib resistance in lung cancer.Cell death and differentiation · 2025Article
- Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review.Molecular syndromology · 2025Article
- Targeting phospholipase PLAG-15 promotes healthy aging iniScience · 2025Article
- The Role of Cobalamin in Multiple Sclerosis: An Update.Inflammation · 2025Review
- Genetic ancestry concordant RNA splicing in prostate cancer involves oncogenic genes and associates with recurrence.NPJ precision oncology · 2025Article
- Article
- Vitamin BInternational journal of molecular sciences · 2024Review
- Transcriptome-wide association analysis identifies candidate susceptibility genes for prostate-specific antigen levels in men without prostate cancer.HGG advances · 2024Article
- ABCD4 is associated with mammary gland development in mammals.BMC genomics · 2024Article
- Emerging Roles of Vitamin BInternational journal of molecular sciences · 2024Review
- Emerging Role of ABC Transporters in Glia Cells in Health and Diseases of the Central Nervous System.Cells · 2024Review
- Dependency on host vitamin B12 has shaped Mycobacterium tuberculosis Complex evolution.Nature communications · 2024Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 10 institutions in 4 countries.
Funding
Abstract
Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this vitamin, which is essential for hematological and neurological function, is transported and metabolized. We describe a new disease that results in failure to release vitamin B12 from lysosomes, which mimics the cblF defect caused by LMBRD1 mutations. Using microcell-mediated chromosome transfer and exome sequencing, we identified causal mutations in ABCD4, a gene that codes for an ABC transporter, which was previously thought to have peroxisomal localization and function. Our results show that ABCD4 colocalizes with the lysosomal proteins LAMP1 and LMBD1, the latter of which is deficient in the cblF defect. Furthermore, we show that mutations altering the putative ATPase domain of ABCD4 affect its function, suggesting that the ATPase activity of ABCD4 may be involved in intracellular processing of vitamin B12.
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What OpenQuestion holds
Registered trials
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.