ReviewJournal of inherited metabolic disease2011
LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.
Review in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Structural basis for LMBD1-dependent trafficking and cobalamin export of ABCD4.Nature communications · 2026Article
- Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives.Frontiers in nutrition · 2026Review
- Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.Scientific reports · 2025Article
- Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestations.Journal of human genetics · 2025Article
- Genome-Wide Association Study of Liver Fat: The Multiethnic Cohort Adiposity Phenotype Study.Hepatology communications · 2020Article
- Assessment of cellular cobalamin metabolism in Gaucher disease.BMC medical genetics · 2020Article
- Article
- Transcellular transport of cobalamin in aortic endothelial cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2018Article
- Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.Orphanet journal of rare diseases · 2018Article
- Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia.BMC genomics · 2018Article
- Lmbrd1 expression is essential for the initiation of gastrulation.Journal of cellular and molecular medicine · 2016Article
- Article
- Concept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.Genes & nutrition · 2014Article
- Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Orphanet journal of rare diseases · 2012Article
- Evidence of an evolutionarily conserved LMBR1 domain-containing protein that associates with endocytic cups and plays a role in cell migration in dictyostelium discoideum.Eukaryotic cell · 2012Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To date, only very few genetic disorders due to defects in lysosomal membrane transport are known. This paper reviews the identification of the underlying molecular defect causing an intriguing inborn error of vitamin B₁₂ metabolism, namely, defective lysosomal release of vitamin B₁₂ (cblF defect). Using microcell-mediated chromosome transfer of wild-type human chromosomes into immortalized fibroblasts from a cblF patient and genome-wide homozygosity mapping in 12 unrelated cblF patients, we identified LMBRD1 as a positional candidate gene on chromosome 6q13. Five different frameshift mutations leading to loss of function of both LMBRD1 alleles were detected in the affected patients. Transfection of the LMBRD1 wild-type construct into fibroblasts derived from cblF patients restored cobalamin coenzyme synthesis and function. LMBRD1 encodes a novel lysosomal membrane protein with significant homology to lipocalin membrane receptors. These studies give further insight into the intracellular transport of vitamins, challenge the views on lipocalin receptors, and add to our understanding of lysosomal diseases.
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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.