| First Author | Buers I | Year | 2016 |
| Journal | J Cell Mol Med | Volume | 20 |
| Issue | 8 | Pages | 1523-33 |
| PubMed ID | 27061115 | Mgi Jnum | J:302463 |
| Mgi Id | MGI:6508510 | Doi | 10.1111/jcmm.12844 |
| Citation | Buers I, et al. (2016) Lmbrd1 expression is essential for the initiation of gastrulation. J Cell Mol Med 20(8):1523-33 |
| abstractText | The rare inborn cblF defect of cobalamin metabolism is caused by mutations in the limb region 1 (LMBR1) domain containing 1 gene (LMBRD1). This defect is characterized by massive accumulation of free cobalamin in lysosomes and loss of mitochondrial succinyl-CoA synthesis and cytosolic methionine synthesis. Affected children suffer from heart defects, developmental delay and megaloblastic anemia. LMBRD1 encodes for LMBD1, a predicted lysosomal cobalamin transport protein. In this study, we determine the physiological function of LMBRD1 during embryogenesis by generating Lmbrd1 deficient mice using the Cre/LoxP system. Complete loss of Lmbrd1 function is accompanied by early embryonic death in mice. Whole mount in situ hybridization studies against bone morphogenetic protein 4 and Nodal show that initial formation of the proximal-distal axis is unaffected in early embryonic stages whereas the initiation of gastrulation is disturbed shown by the expression pattern of even skipped homeotic gene 1 and fibroblast growth factor 8 in Lmbrd1 deficient mice. We conclude that intact function of LMBD1 is essential for the initiation of gastrulation. |
