[PDF][PDF] Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease
AJ Esser, S Mukherjee, IA Dereven'kov, SV Makarov… - Iscience, 2022 - cell.com
Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization
of vitamin B 12 (B 12) lead to hematological and neurological manifestations. The cblC …
of vitamin B 12 (B 12) lead to hematological and neurological manifestations. The cblC …
Cobalamin C defect: natural history, pathophysiology, and treatment
D Martinelli, F Deodato, C Dionisi-Vici - Journal of inherited metabolic …, 2011 - Springer
Abstract Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …
The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans
L Hannibal, PM DiBello, M Yu, A Miller, S Wang… - Molecular genetics and …, 2011 - Elsevier
Abstract Cobalamin (Cbl, B 12) is an essential micronutrient required to fulfill the enzymatic
reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial …
reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial …
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes …
M Pupavac, D Watkins, F Petrella… - Human …, 2016 - Wiley Online Library
ABSTRACT Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and
methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl‐CoA …
methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl‐CoA …
The MMACHC variant c. 158 T> C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients
T Demaret, K Bédard, JF Soucy, D Watkins… - Molecular Genetics and …, 2024 - Elsevier
Mutations in MMACHC cause cobalamin C disease (cblC, OMIM 277400), the commonest
inborn error of vitamin B 12 metabolism. In cblC, deficient activation of cobalamin results in …
inborn error of vitamin B 12 metabolism. In cblC, deficient activation of cobalamin results in …
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 clinical presentation of cobalamin‐related disorders: from acquired deficiencies to inborn errors of absorption and intracellular pathways
M Huemer, MR Baumgartner - Journal of inherited metabolic …, 2019 - Wiley Online Library
This review gives an overview of clinical characteristics, treatment and outcome of nutritional
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …
Proteomics of vitamin B12 processing
L Hannibal, PM DiBello, DW Jacobsen - Clinical chemistry and …, 2013 - degruyter.com
The causes of cobalamin (B12, Cbl) deficiency are multifactorial. Whether nutritional due to
poor dietary intake, or functional due to impairments in absorption or intracellular processing …
poor dietary intake, or functional due to impairments in absorption or intracellular processing …
Intracellular processing and utilization of cobalamins
L Hannibal, DW Jacobsen - Vitamin B12, 2017 - taylorfrancis.com
This chapter presents an intracellular cobalamin (Cbl) processing and trafficking and the
synthesis and utilization of the two essential cofactors, methylcobalamin (MeCbl) and …
synthesis and utilization of the two essential cofactors, methylcobalamin (MeCbl) and …
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 …