[HTML][HTML] Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1
V Fettelschoss, P Burda, C Sagné, D Coelho… - Journal of Biological …, 2017 - ASBMB
Vitamin B 12 (cobalamin (Cbl)), in the cofactor forms methyl-Cbl and adenosyl-Cbl, is
required for the function of the essential enzymes methionine synthase and methylmalonyl …
required for the function of the essential enzymes methionine synthase and methylmalonyl …
[HTML][HTML] The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro
K Kitai, K Kawaguchi, T Tomohiro, M Morita… - Journal of Biological …, 2021 - ASBMB
Vitamin B 12 (cobalamin) is an essential micronutrient for human health, and mutation and
dysregulation of cobalamin metabolism are associated with serious diseases, such as …
dysregulation of cobalamin metabolism are associated with serious diseases, such as …
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this
vitamin, which is essential for hematological and neurological function, is transported and …
vitamin, which is essential for hematological and neurological function, is transported and …
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing
Inborn errors of vitamin B12 (cobalamin) metabolism are characterized by decreased
production of active cobalamin cofactors and subsequent deficiencies in the activities of …
production of active cobalamin cofactors and subsequent deficiencies in the activities of …
Gene Identification for the cblD Defect of Vitamin B12 Metabolism
D Coelho, T Suormala, M Stucki… - … England Journal of …, 2008 - Mass Medical Soc
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways.
Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in …
Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in …
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
F Rutsch, S Gailus, IR Miousse, T Suormala, C Sagné… - Nature …, 2009 - nature.com
Vitamin B12 (cobalamin) is essential in animals for metabolism of branched chain amino
acids and odd chain fatty acids, and for remethylation of homocysteine to methionine. In the …
acids and odd chain fatty acids, and for remethylation of homocysteine to methionine. In the …
Intracellular processing of vitamin B12 by MMACHC (CblC)
L Hannibal, DW Jacobsen - Vitamins and hormones, 2022 - Elsevier
Abstract Vitamin B 12 (cobalamin, Cbl, B 12) is a water-soluble micronutrient synthesized
exclusively by a group of microorganisms. Human beings are unable to make B 12 and thus …
exclusively by a group of microorganisms. Human beings are unable to make B 12 and thus …
Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transport
M Imai, K Kawaguchi, M Morita… - Journal of Inherited …, 2024 - Wiley Online Library
ABCD4, which belongs to the ABC protein subfamily D, plays a role in the transport of
cobalamin from lysosomes to the cytosol by cooperating with ATP‐binding and ATP …
cobalamin from lysosomes to the cytosol by cooperating with ATP‐binding and ATP …
Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria
DS Froese, J Zhang, S Healy, RA Gravel - Molecular genetics and …, 2009 - Elsevier
Patients with the cblC vitamin B12 (cobalamin, cbl) disorder are defective in the intracellular
synthesis of adenosylcobalamin and methylcobalamin and have combined homocystinuria …
synthesis of adenosylcobalamin and methylcobalamin and have combined homocystinuria …
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning
Mutations in cobalamin or B12 trafficking genes needed for cofactor assimilation and
targeting lead to inborn errors of cobalamin metabolism. The gene corresponding to one of …
targeting lead to inborn errors of cobalamin metabolism. The gene corresponding to one of …