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Insights into lysosomal cobalamin trafficking : lessons learned from cblF disease

Gailus, Susann and Höhne, Wolfgang and Gasnier, Bruno and Nürnberg, Peter and Fowler, Brian and Rutsch, Frank. (2010) Insights into lysosomal cobalamin trafficking : lessons learned from cblF disease. Journal of molecular medicine, Vol. 88, no. 5. pp. 459-466.

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Official URL: http://edoc.unibas.ch/dok/A6007689

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Abstract

Vitamin B(12) (cobalamin) is essential in animals and humans for metabolism of methylmalonic acid, for the remethylation of homocysteine to methionine and, consequently, for all S-adenosylmethionine-dependent methylation reactions, including DNA synthesis. In man, cobalamin deficiency leads to anemia and neurologic and cognitive impairment. In the cblF inborn error of vitamin B(12) metabolism, free vitamin accumulates in lysosomes and cannot be converted to cofactors for mitochondrial methylmalonyl-CoA mutase and cytosolic methionine synthase. Recent work has shown that this defect is caused by mutations in the lysosomal membrane protein LMBD1, which shows significant homology to lipocalin membrane receptors, thereby indicating that LMBD1 is a lysosomal membrane exporter for cobalamin.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)
UniBasel Contributors:Fowler, Brian
Item Type:Article, refereed
Article Subtype:Further Journal Contribution
Bibsysno:Link to catalogue
Publisher:Springer
ISSN:0946-2716
Note:Publication type according to Uni Basel Research Database: Journal item
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Last Modified:16 Aug 2013 07:34
Deposited On:16 Aug 2013 07:31

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