Associated Papers
Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review.
Dong R et al.
Heliyon, 2024
Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling.
Antony P et al.
Biomedicines, 2023
Redox-Linked Coordination Chemistry Directs Vitamin B12 Trafficking.
Banerjee R et al.
Accounts of Chemical Research, 2021
Thiolatocobalamins repair the activity of pathogenic variants of the human cobalamin processing enzyme CblC.
Wingert V et al.
Biochimie, 2021
The human B12 trafficking protein CblC processes nitrocobalamin.
Mascarenhas R et al.
The Journal of Biological Chemistry, 2020
Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases.
Wang X et al.
Orphanet Journal of Rare Diseases, 2019
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.
Almannai M et al.
Molecular Genetics and Metabolism, 2017
Coordination chemistry controls the thiol oxidase activity of the B12-trafficking protein CblC.
Li Z et al.
The Journal of Biological Chemistry, 2017
Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.
Gherasim C et al.
The Journal of Biological Chemistry, 2015
Structural basis of multifunctionality in a vitamin B12-processing enzyme.
Koutmos M et al.
The Journal of Biological Chemistry, 2011
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP et al.
Human Mutation, 2009
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
Tsai AC et al.
American Journal of Medical Genetics. Part A, 2007
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP et al.
Nature Genetics, 2006
Select a paper to view details