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<i>LMBRD1</i>: the gene for the cblF defect of vitamin B<sub>12</sub> metabolism

5 May 2010

Abstract excerpt

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...

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PMID: 20446115
DOI: 10.1007/s10545-010-9083-9

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Related research

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Research trail→

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<i>LMBRD1</i>: the gene for the cblF defect of vitamin B<sub>12</sub> metabolismPMID 20446115Read ↗

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.Semantic proximity Read ↗

Gene Identification for the cblD Defect of Vitamin B<sub>12</sub>MetabolismSemantic proximity Read ↗

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Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.Semantic proximity Read ↗

Genetic disorders of vitamin B12metabolism: eight complementation groups – eight genesSemantic proximity Read ↗

The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro.Semantic proximity Read ↗

Inborn Error of Vitamin B12 Metabolism due to a Novel LMBRD1 Variant: A Mimicker of Dyskeratosis CongenitaSemantic proximity Read ↗

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.Semantic proximity Read ↗

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.Semantic proximity Read ↗

Identification of the gene responsible for the <i>cblA</i> complementation group of vitamin B <sub>12</sub> -responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangementsSemantic proximity Read ↗

Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient.Semantic proximity Read ↗

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