The complex machinery of human cobalamin metabolism

TJ McCorvie, D Ferreira, WW Yue… - Journal of Inherited …, 2023 - Wiley Online Library
Abstract Vitamin B12 (cobalamin, Cbl) is required as a cofactor by two human enzymes, 5‐
methyltetrahydrofolate‐homocysteine methyltransferase (MTR) and methylmalonyl‐CoA …

Plastic structures for diverse substrates: A revisit of human ABC transporters

WT Hou, D Xu, L Wang, Y Chen… - Proteins: Structure …, 2022 - Wiley Online Library
ATP‐binding cassette (ABC) superfamily is one of the largest groups of primary active
transporters that could be found in all kingdoms of life from bacteria to humans. In humans …

[HTML][HTML] Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1

ZP Chen, D Xu, L Wang, YX Mao, Y Li… - Nature …, 2022 - nature.com
Human ABC transporter ABCD1 transports very long-chain fatty acids from cytosol to
peroxisome for β-oxidation, dysfunction of which usually causes the X-linked …

[HTML][HTML] Systematic in silico discovery of novel solute carrier-like proteins from proteomes

G Gyimesi, MA Hediger - PLoS One, 2022 - journals.plos.org
Solute carrier (SLC) proteins represent the largest superfamily of transmembrane
transporters. While many of them play key biological roles, their systematic analysis has …

[HTML][HTML] Bidirectional ATP-driven transport of cobalamin by the mycobacterial ABC transporter BacA

M Nijland, SN Lefebvre, C Thangaratnarajah… - Nature …, 2024 - nature.com
BacA is a mycobacterial ATP-binding cassette (ABC) transporter involved in the
translocation of water-soluble compounds across the lipid bilayer. Whole-cell-based assays …

Membrane transport of cobalamin

M Nijland, JMM Felices, DJ Slotboom… - Vitamins and …, 2022 - Elsevier
A wide variety of organisms encode cobalamin-dependent enzymes catalyzing essential
metabolic reactions, but the cofactor cobalamin (vitamin B12) is only synthesized by a …

[HTML][HTML] Vitamin B12 (Cobalamin): Its fate from ingestion to metabolism with particular emphasis on diagnostic approaches of acquired neonatal/infantile deficiency …

M Kósa, Z Galla, I Lénárt, Á Baráth, N Grecsó, G Rácz… - Metabolites, 2022 - mdpi.com
Acquired vitamin B12 (vB12) deficiency (vB12D) of newborns is relatively frequent as
compared with the incidence of inherited diseases included in newborn screening (NBS) of …

Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1–3 and ABCD4

K Kawaguchi, T Imanaka - Chemical and Pharmaceutical Bulletin, 2022 - jstage.jst.go.jp
The ATP-binding cassette (ABC) transporters are one of the largest families of membrane-
bound proteins and exist in almost all living organisms from eubacteria to mammals. They …

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 …

[HTML][HTML] Methylmalonic acidemia triggers lysosomal-autophagy dysfunctions

M Costanzo, A Cevenini, L Kollipara, M Caterino… - Cell & Bioscience, 2024 - Springer
Background Methylmalonic acidemia (MMA) is a rare inborn error of propionate metabolism
caused by deficiency of the mitochondrial methylmalonyl-CoA mutase (MUT) enzyme. As …