Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

Metabolic Brain Disease - Glutaric aciduria type 1 (GA1, deficiency of glutaryl CoA dehydrogenase, glutaric acidemia type 1) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease...     

Quantitative Determination of Total Flavonoids in Blood-Red Hawthorn Leaves

Pharmaceutical Chemistry Journal - A quantitative determination method for total flavonoids in blood-red hawthorn leaves recalculated as vitexin 2″-O-rhamnoside using difference...     

Combined administration of mexidol and anti-arrhythmia agents

The influence of mexidol on the acute toxicity and electrophysiological effects of nibentan, propranolol, and verapamil was experimentally studied. It was found that mexidol potentiates the ability of propranolol and verapamil to inhibit automatism of the sinus node and suppresses the ability of all the three drugs to increase the refractory period of myocardium. It is suggested that these effects are related to the action of mexidol upon ion channels.     

Protein fractions and their enzyme activity in the rat myocardium in a Kosmos-936 biosatellite experiment

The effect of artificial gravity on protein fractions and their enzyme activity in the myocardium of rats flown on board Cosmos-936 was studied. In weightless rats the content of sarcoplasmic proteins increased at R + O and that of T fraction proteins decreased at R + 25. In centrifuged rats such changes were not seen. In centrifuged rats the enzyme activity of sarcoplasmic proteins did not alter. In weightless rats ATPase activity of myosin decreased significantly, and in centrifuged rats it remained almost unchanged.     

Alkaptonuria in Russia: mutational spectrum and novel variants

Alkaptonuria is a rare genetic disease caused by mutations in HGD gene. Here we report the results of genetic and biochemical analysis of 49 Russian patients with alkaptonuria. One of the common variants c.481G > A; p.(Gly161Arg) comprising 72.4% of identified alleles was found in 45 of 49 patients in our cohort, which is probably the highest frequency of this variant worldwide. 9 novel variants were found: 6 missense, 2 splicing and 1 loss of start-codon. For missense variants we performed bioinformatic analysis, protein 3D-modeling and molecular dynamics simulations, which strongly suggest their pathogenic effect. For the rare synonymous variant c.753C > T; p.(Gly251Gly), which was found in 3 cases and predicted to activate cryptic splice site, we performed the detailed functional analysis on patient's cDNA and minigene assay and confirmed its pathogenicity.