LMBRD1: The gene for the cblF defect of vitamin B12 metabolism

Journal of Inherited Metabolic Disease

Volumn 34, Issue 1, 2011, Pages 121-126

  Rutsch, Frank ^a   Gailus, Susann ^a   Suormala, Terttu ^b   Fowler, Brian ^b  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; HYDROXOCOBALAMIN; LIPOCALIN; MEMBRANE PROTEIN; MEMBRANE RECEPTOR; LMBRD1 PROTEIN, HUMAN; NUCLEOCYTOPLASMIC TRANSPORT PROTEIN;

ALLELE; CELL IMMORTALIZATION; CHROMOSOME 6Q; FIBROBLAST; FRAMESHIFT MUTATION; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; INBORN ERROR OF CYANOCOBALAMIN METABOLISM; INBORN ERROR OF METABOLISM; INTRACELLULAR TRANSPORT; LMBRD1 GENE; LYSOSOME STORAGE DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; REVIEW; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE; ANIMAL; BIOLOGICAL MODEL; BLOOD; CYANOCOBALAMIN DEFICIENCY; GENETICS; METABOLISM; PHYSIOLOGY;

ANIMALS; HUMANS; MODELS, BIOLOGICAL; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 79955894724     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9083-9     Document Type: Review

References (23)

1. Abecasis GR, Wigginton JE (2005) Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. Am J Hum Genet 77:754-767 (Pubitemid 41513278)
2. Clark RM, Marker PC, Kingsley DM (2000) A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of hemimelic extra-toes mutant mice. Genomics 67:19-27 (Pubitemid 30471117)
3. Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B (2008) Gene Identification for the CblD Defect of Vitamin B12 Metabolism. N Engl J Med 358:1454-1464 (Pubitemid 351482737)
4. Crisponi L, Crisponi G, Meloni A et al (2007) Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet 80:971-981 (Pubitemid 46668466)
5. Cuthbert AP, Trott DA, Ekong RM et al (1995) Construction and characterization of a highly stable human: rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies. Cytogenet Cell Genet 71:68-76
6. Dufour E, Marden MC, Haertlé T (1990) Beta-lactoglobulin binds retinol and protoporphyrin IX at two different binding sites. FEBS Lett 277:223-226
7. Flower DR (1996) The lipocalin protein family: structure and function. Biochem J 318:1-14
8. Fluckinger M, Merschak P, Hermann M, Haertle T, Redl B (2008) Lipocalin-Interacting-Membrane-Receptor (Limr) Mediates cellular internalization of beta-lactoglobulin. Biochim Biophys Acta 1778:342-347
9. Gahl WA, Thoene JG, Schneider JA (2002) Cystinosis. N Engl J Med 347:111-121
10. 12 metabolism in a Turkish patient. J Inherit Metab Dis 33:17-24
11. Idriss JM, Jonas AJ (1991) Vitamin B12 transport by rat liver lysosomal membrane vesicles. J Biol Chem 266:9438-9441
12. Kastner-Koller U, Deimann P, Konrad C, Steinbauer B (2004) The enhancement of development at nursery school age. Prax Kinderpsychol Kinderpsychiatr 53:145-166 (Pubitemid 38430419)
13. Lettice LA, Horikoshi T, Heaney SJ et al (2002) Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A 99:7548-7553 (Pubitemid 34568728)
14. Quadros EV, Nakayama Y, Sequeira JM (2009) The protein and the gene encoding the receptor for cellular uptake of transcobalamin-bound cobalamin. Blood 113:186-192
15. Rosenblatt DS, Hosack A, Matiaszuk NV, Cooper BA, Laframboise R (1985) Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism. Science 228 (4705):1319-1321 (Pubitemid 15000357)
16. Rutsch F, Gailus S, Miousse IR et al (2009) Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B(12) metabolism. Nat Genet 41:234-239
17. Sagné C, Gasnier B (2008) Molecular physiology and pathophysiology of lysosomal membrane transporters. J Inherit Metab Dis 31:258-266
18. Suormala T, Baumgartner MR, Coelho D et al (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J Biol Chem 279:42742-42749 (Pubitemid 39372161)
19. Vassiliadis A, Rosenblatt DS, Cooper BA, Bergeron JJ (1991) Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (CblF Complementation Group): visualization by electron microscope radioautography. Exp Cell Res 195:295-302 (Pubitemid 121006326)
20. Wang YH, Chang SC, Huang C, Li YP, Lee CH, Chang MF (2005) Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus. J Virol 79:8113-8120 (Pubitemid 40853514)
21. Whitehead VM, Rosenblatt RD, Cooper BA (1998) Megaloblastic anemia. In: Nathan DG, Orkin SH (eds) Nathan and Oski's hematology of infancy and childhood. WB Saunders Company, Philadelphia, pp 385-422
22. Wojnar P, Lechner M, Merschak P, Redl B (2001) Molecular cloning of a novel lipocalin-1 interacting human cell membrane receptor using phage display. J Biol Chem 276:20206-20212
23. Wojnar P, Lechner M, Redl B (2003) Antisense down-regulation of lipocalin-interacting membrane receptor expression inhibits cellular internalization of lipocalin-1 in human Nt2 cells. J Biol Chem 278:16209-16215 (Pubitemid 36799744)