Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism-Reference-Cited by-同舟云学术

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Published:2009-01-11 Issue:2 Volume:41 Page:234-239
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Rutsch Frank,Gailus Susann,Miousse Isabelle R,Suormala Terttu,Sagné Corinne,Toliat Mohammad Reza,Nürnberg Gudrun,Wittkampf Tanja,Buers Insa,Sharifi Azita,Stucki Martin,Becker Christian,Baumgartner Matthias,Robenek Horst,Marquardt Thorsten,Höhne Wolfgang,Gasnier Bruno,Rosenblatt David S,Fowler Brian,Nürnberg Peter

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.294.pdf

Reference30 articles.

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2. Rosenblatt, D.S., Hosack, A., Matiaszuk, N.V., Cooper, B.A. & Laframboise, R. Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism. Science 228, 1319–1321 (1985).

3. Vassiliadis, A., Rosenblatt, D.S., Cooper, B.A. & Bergeron, J.J. 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 (1991).

4. Coelho, D. et al. Gene identification for the cblD defect of vitamin B12 metabolism. N. Engl. J. Med. 358, 1454–1464 (2008).

5. Suormala, T. et al. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J. Biol. Chem. 279, 42742–42749 (2004).

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