Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the Gene.

Bruck syndrome is a rare autosomal recessive disorder characterized by increased bone fragility and joint contractures similar to those in arthrogryposis and is known to be associated with mutations in the () and () genes. These genes encode endoplasmic reticulum proteins that play an important role in the biosynthesis of type I collagen, which in turn affects the structure and strength of connective tissues and bones in the body. Mutations are associated with disturbances in both the primary collagen chain and its post-translational formation, but the mechanism by which mutations lead to Bruck syndrome phenotypes has not been determined, not only because of the small number of patients who come to the attention of researchers but also because of the lack of disease models.

Acetyl-L-Carnitine Aids in Preservation of Cholinergic Neurons and Memory in the Drosophila melanogaster Model of Alzheimer's Disease.

Background: The lack of effective therapy for the treatment of Alzheimer's disease demands both the search for new drugs and the reconsideration of already known substances currently used in other areas of medicine. Drosophila melanogaster offers the potential to model features of Alzheimer's disease, study disease mechanisms, and conduct drug screening.

Objectives: The purpose of this work was to analyze the neuroprotective properties of the drug "carnicetine", which is an acetylated form of the natural low molecular weight compound L-carnitine.

Fullerenols Prevent Neuron Death and Reduce Oxidative Stress in Huntington's Disease Model.

Huntington's disease (HD) is one of the human neurodegenerative diseases for which there is no effective treatment. Therefore, there is a strong demand for a novel neuroprotective agent that can alleviate its course. Fullerene derivatives are considered to be such agents; however, they need to be comprehensively investigated in model organisms.

Blood-Brain Barrier Penetrating Luminescent Conjugates Based on Cyclometalated Platinum(II) Complexes.

Herein we report on the synthesis, structural characterization and photophysical properties of cyclometalated Pt(II) complexes [Pt(N^C)(PPh(CHCOOH))Cl] (where N^C ligands are 2-phenylpyridine, (2-benzofuran-3-yl)pyridine, and (2-benzo[]tiophen-3-yl)pyridine) and their conjugates with the histidine-containing RRRRRRRRRRHVLPKVQA peptide. This peptide contains the RHVLPKVQA sequence, which is responsible for antiamyloid activity, and the Arg9 RRRRRRRRR domain, which shows improved translocation through cell membranes. The chemistry underpinning the conjugation is regioselective complexation between Pt(II) complexes and histidine residue in the peptide.

The neuroprotective effect of fullerenols on a model of Parkinson's disease in Drosophila melanogaster.

Neuroprotective properties of fullerenols С(OH) and С(OH) have been shown in a Drosophila melanogaster model of Parkinson's Disease (PD). Fullerenols used in this work demonstrated negligible toxicity even at high concentrations as a result of a specifically developed manufacturing process. It has been shown that the drugs promote restoration of dopamine levels, reduce oxidative stress in transgenic flies expressing the human alpha-synuclein gene, prevent death of dopaminergic neurons in the brain and alleviate aggregation of alpha-synuclein.

In vitro and in vivo study of the toxicity of fullerenols С, С and СО obtained by an original two step method.

The toxicity of C(OH), C(OH), and CO(OH) fullerenols, prepared by a new original method, has been studied. This method allowed us to obtain high-purity fullerenols and eliminate the risks of synthesis of preparations containing insoluble fractions contaminated with impurities such as fullerenes not completely reacted by hydroxylation. All fullerenols were detected inside cultured cells.

[A case of multiple cysticercosis of the brain].

The paper describes a clinical observation made in a 51-year old patient with brain cysticercosis. The onset of the disease resulted from symptoms of diencephalic damage (altered blood pressure, subfebrility, drowsiness, hormonal abnormalities). Following 4 hours paroxysmal phenomena appeared.