{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T18:11:45Z","timestamp":1793211105510,"version":"4.5.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,5,6]],"date-time":"2010-05-06T00:00:00Z","timestamp":1273104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 B<jats:sub>12<\/jats:sub> metabolism, namely, defective lysosomal release of vitamin B<jats:sub>12<\/jats:sub> (cblF defect). Using microcell\u2010mediated chromosome transfer of wild\u2010type human chromosomes into immortalized fibroblasts from a cblF patient and genome\u2010wide homozygosity mapping in 12 unrelated cblF patients, we identified <jats:italic>LMBRD1<\/jats:italic> as a positional candidate gene on chromosome 6q13. Five different frameshift mutations leading to loss of function of both <jats:italic>LMBRD1<\/jats:italic> alleles were detected in the affected patients. Transfection of the LMBRD1 wild\u2010type construct into fibroblasts derived from cblF patients restored cobalamin coenzyme synthesis and function. <jats:italic>LMBRD1<\/jats:italic> 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.<\/jats:p>","DOI":"10.1007\/s10545-010-9083-9","type":"journal-article","created":{"date-parts":[[2010,5,5]],"date-time":"2010-05-05T12:17:05Z","timestamp":1273061825000},"page":"121-126","source":"Crossref","is-referenced-by-count":37,"title":["<i>LMBRD1<\/i>: the gene for the cblF defect of vitamin B<sub>12<\/sub> metabolism"],"prefix":"10.1002","volume":"34","author":[{"given":"Frank","family":"Rutsch","sequence":"first","affiliation":[{"name":"Department of General Pediatrics M\u00fcnster University Children's Hospital M\u00fcnster Germany"},{"name":"Klinik und Poliklinik f\u00fcr Kinder\u2010 und Jugendmedizin, Allgemeine P\u00e4diatrie Universit\u00e4tsklinikum M\u00fcnster Albert\u2010Schweitzer\u2010Strasse 33 M\u00fcnster 48149 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