Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4
JC Deme, MA Hancock, X Xia, CA Shintre… - Molecular membrane …, 2014 - Taylor & Francis
Mutations in human LMBRD1 and ABCD4 prevent lysosomal export of vitamin B12 to the
cytoplasm, impairing the vitamin B12-dependent enzymes methionine synthase and …
cytoplasm, impairing the vitamin B12-dependent enzymes methionine synthase and …
Glutathione-dependent one-electron transfer reactions catalyzed by a B12 trafficking protein
CblC is involved in an early step in cytoplasmic cobalamin processing following entry of the
cofactor into the cytoplasm. CblC converts the cobalamin cargo arriving from the lysosome to …
cofactor into the cytoplasm. CblC converts the cobalamin cargo arriving from the lysosome to …
Characterization of functional domains of the cblD (MMADHC) gene product
J Jusufi, T Suormala, P Burda, B Fowler… - Journal of inherited …, 2014 - Springer
In humans vitamin B 12 (cobalamin, Cbl) must be converted into two coenzyme forms,
methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl), in order to maintain …
methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl), in order to maintain …
The Mmachc gene is required for pre-implantation embryogenesis in the mouse
MA Moreno-Garcia, M Pupavac, DS Rosenblatt… - Molecular genetics and …, 2014 - Elsevier
Patients with mutations in MMACHC have the autosomal recessive disease of cobalamin
metabolism known as cblC. These patients are unable to convert cobalamin into the two …
metabolism known as cblC. These patients are unable to convert cobalamin into the two …
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism
C Atkinson, IR Miousse, D Watkins… - JIMD Reports, Volume …, 2014 - Springer
Disorders of intracellular cobalamin (vitamin B 12) metabolism result from deficient synthesis
of the coenzymes derived from vitamin B 12: adenosylcobalamin and methylcobalamin …
of the coenzymes derived from vitamin B 12: adenosylcobalamin and methylcobalamin …
Characterization of patients with combined methylmalonic aciduria and homocystinuria diagnosed as cblC
A Brebner - 2014 - escholarship.mcgill.ca
Vitamin B12 (cobalamin) is essential for two mammalian enzymes: methylmalonylCoA
mutase and methionine synthase. To date, there are nine described inborn errors of …
mutase and methionine synthase. To date, there are nine described inborn errors of …
Protein-protein interactions for early intracellular vitamin B12 metabolism in mammals
J Deme - 2014 - escholarship.mcgill.ca
La vitamine B12, ou bien la cobalamine, est une vitamine soluble requise pour deux
processus enzymatiques distincts chez les mammifères; la production de l'acide aminée …
processus enzymatiques distincts chez les mammifères; la production de l'acide aminée …