[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 …

[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 …

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

D Coelho, JC Kim, IR Miousse, S Fung, M du Moulin… - Nature …, 2012 - nature.com
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 …

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

JC Kim, NC Lee, PWL Hwu, YH Chien… - Molecular genetics and …, 2012 - Elsevier
Inborn errors of vitamin B12 (cobalamin) metabolism are characterized by decreased
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 …

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 …

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 …

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 …

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 …

The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning

C Gherasim, L Hannibal, D Rajagopalan… - Biochimie, 2013 - Elsevier
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 …