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 …
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism
M Stucki, D Coelho, T Suormala, P Burda… - Human molecular …, 2012 - academic.oup.com
The cblD defect of intracellular vitamin B12 metabolism can lead to isolated methylmalonic
aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and …
aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and …
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 …
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 …
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B12 metabolism
W Mah, JC Deme, D Watkins, S Fung, A Janer… - Molecular genetics and …, 2013 - Elsevier
MMACHC and MMADHC are the genes responsible for cblC and cblD defects of vitamin
B12 metabolism, respectively. Patients with cblC and cblD defects present with various …
B12 metabolism, respectively. Patients with cblC and cblD defects present with various …
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 …
Novel deletion mutation identified in a patient with late-onset combined methylmalonic acidemia and homocystinuria, cblC Type
Combined methylmalonic aciduria and homocystinuria, cblC type (MMACHC), is the most
common inborn error of cellular vitamin B 12 metabolism and is caused by mutations in the …
common inborn error of cellular vitamin B 12 metabolism and is caused by mutations in the …
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism
OBJECTIVES: To describe 3 patients with the cblD disorder, a rare inborn error of cobalamin
metabolism caused by mutations in the MMADHC gene that can result in isolated …
metabolism caused by mutations in the MMADHC gene that can result in isolated …
[HTML][HTML] Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of
cellular vitamin B12 metabolism. We previously showed that the protein carrying the …
cellular vitamin B12 metabolism. We previously showed that the protein carrying the …
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype–phenotype correlations
JP Lerner‐Ellis, N Anastasio, J Liu, D Coelho… - Human …, 2009 - Wiley Online Library
Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular
vitamin B12 (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene …
vitamin B12 (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene …