Results 41 to 50 of about 19,626,692 (182)
Egyptian Journal of Medical Human Genetics, 2021 Background Methylmalonic acidemia with homocystinuria is caused by a rare inborn error of vitamin B12 (cobalamin) metabolism. There are four complementation classes of cobalamin defects cblC, cblD, cblF, and cblJ that are responsible for combined ...
Nadia Waheed, Zafar Fayyaz, Ahmad Imran
doaj +1 more source
Advanced Science, EarlyView.Engineered heart tissues (EHTs) derived from human iPSCs replicate mechanisms of ventricular tachycardia at the tissue level. Acquired Long‐QT conditions cause early afterdepolarizations, wavebreak, and transient rotors; in contrast, focal cryoinjury forms a stable substrate that supports ongoing reentry.
Matthew Fiedler +4 more
wiley +1 more source
Theoretical Prediction of the Co−C Bond Strength in Cobalamins
The Journal of Physical Chemistry A, 2003 The homolytic Co−C bond dissociation energy (BDE) is central to the understanding of the function of vitamin B12, an important coenzyme of many proteins. We investigate why earlier density functional (B3LYP) estimations of the BDE in methylcobalamin have given so poor results (91−117 kJ/mol) compared to the experimental estimate (155 ± 13 kJ/mol ...
Jensen, Kasper, Ryde, Ulf
openaire +2 more sources
Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts
, 1978 binding of radioactive cobalamin by normal cultured human fibroblasts grown in medium containing [57Co]-cobalamin. We have also assessed the significance of defects in this binding activity exhibited by two classes ofhuman mutants (cbl C and cbl D) each ...
Ira Mellman +2 more
core +1 more source
Does B12 vitamin limit phytoplankton growth in the new Iberian Peninsula?
Frontiers in Marine Science, 2014 The effects of increasing nutrient inputs entering to oceanic and coastal environments on primary producers are hardly predictable. Phytoplankton responses to nutrient supply depend on the autotrophic-heterotrophic coupling and a profound understanding ...
Esther Barber Lluch
doaj +1 more source
Allyl Aryl Ether Cleavage by Blautia sp. MRG-PMF1 Cocorrinoid O-Demethylase
Microbiology Spectrum, 2022 Coabalamin-dependent O-demethylase in Blautia sp. strain MRG-PMF1 was found to catalyze the unprecedented allyl aryl ether cleavage reaction. To expand the potential biotechnological applications, the reaction mechanism of the allyl aryl ether C-O bond ...
Huynh Thi Ngoc Mi +5 more
doaj +1 more source
Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri +6 more
wiley +1 more source
Cobalamin C defect associated with hemolytic-uremic syndrome
The Journal of Pediatrics, 1992 We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure.
M T, Geraghty +6 more
openaire +2 more sources
Ligand Binding Characteristics of the Cobalamin Binder from Zebrafish.
, 2012 The zebrafish cobalamin binder (as well as human TC, HC, and IF) was incubated for 18 hours with 57[Co]-cobalamin and increasing concentrations of the unlabeled ligand: cyano-cobalamin (A), dicyano-cobinamide (B) and adenosyl-pseudo-cobalamin (C ...
Eva Greibe (171188) +2 more
core +1 more source
JIMD Reports, 2020 Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age of ...
Tomoyasu Higashimoto +9 more
doaj +1 more source