Citations for
1ABCD4, LMBRD1
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR.
J Biol Chem 292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1. 2017
2ABCD4, LMBRD1
Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.
Kawaguchi K, Okamoto T, Morita M, Imanaka T.
Sci Rep 6:30183. doi: 10.1038/srep30183. 2016
3LMBRD1
Lmbrd1 expression is essential for the initiation of gastrulation.
Buers I, Pennekamp P, Nitschke Y, Lowe C, Skryabin BV, Rutsch F.
J Cell Mol Med 20(8):1523-33. doi: 10.1111/jcmm.12844. Epub 2016 Apr 8. 2016
4ABCD4, LMBRD1
Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.
Deme JC, Hancock MA, Xia X, Shintre CA, Plesa M, Kim JC, Carpenter EP, Rosenblatt DS, Coulton JW.
Mol Membr Biol 31(7-8):250-61. doi: 10.3109/09687688.2014.990998. 2014
5INSR, LMBRD1
LMBD1 protein serves as a specific adaptor for insulin receptor internalization.
Tseng LT, Lin CL, Tzen KY, Chang SC, Chang MF.
J Biol Chem 288(45):32424-32. doi: 10.1074/jbc.M113.479527. Epub 2013 Sep 27. 2013
6ABCD4, LMBRD1, MMACHJ
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR.
Nat Genet 44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26. 2012
7LMBRD1, MMACHF
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
Miousse IR, Watkins D, Rosenblatt DS.
Mol Genet Metab 102(4):505-7. doi: 10.1016/j.ymgme.2011.01.002. Epub 2011 Jan 14. 2011
8LMBRD1
Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.
Gailus S, Höhne W, Gasnier B, Nürnberg P, Fowler B, Rutsch F.
J Mol Med (Berl) 88(5):459-66. doi: 10.1007/s00109-010-0601-x. Epub 2010 Feb 20. Review. 2010
9LMBRD1, MMACHF
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné C, Toliat MR, Nürnberg G, Wittkampf T, Buers I, Sharifi A, Stucki M, Becker C, Baumgartner M, Robenek H, Marquardt T, Höhne W, Gasnier B, Rosenblatt DS, Fowler B, Nürnberg P.
Nat Genet 41(2):234-9. Epub 2009 Jan 11. 2009