Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of inherited metabolic disease - 1 Feb 2010

Gailus Susann, Suormala Terttu, Malerczyk-Aktas Ayse Gül, Toliat Mohammad R, Wittkampf Tanja, Stucki Martin, Nürnberg Peter, Fowler Brian, Hennermann Julia B, Rutsch Frank

Abstract excerpt

In the cblF defect of vitamin B(12) (cobalamin) metabolism, cobalamin is trapped in lysosomes. Consequently, cobalamin coenzyme synthesis is blocked, and cofactors for methionine synthase and methylmalonyl-coenzyme A (CoA) mutase are deficient. We recently identified LMBRD1 as the causative gene located on chromosome 6q13 and showed that 18 out of 24 alleles in unrelated patients carried the deletion c.1056delG...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
Share to Homocysteine

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lysosomes

Share to Methylmalonic Acid

Share to Methylmalonyl-CoA Mutase

Share to Nucleocytoplasmic Transport Proteins

Share to Turkey

Share to Vitamin B 12

Source

Identifiers

PMID: 20127417
DOI: 10.1007/s10545-009-9032-7

Genes

LMBRD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.PMID 20127417Read ↗

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

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

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.Semantic proximity Read ↗

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

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

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.Semantic 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 ↗

The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro.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 MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.Semantic proximity Read ↗

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.Semantic proximity Read ↗

Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.