V G Vakharlovskiĭ

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The review considers the original and published data on the molecular genetic basis of proximal spinal muscular atrophy (SMA), the most common monogenic neuromuscular disease. The structures of the SMN1 gene and SMN2 pseudogene, mutations distorting the SMN1 function, the structure and functions of the Smn neurotrophic protein, its role in biogenesis of(More)
Immunochemical methods were used to show that the sera of homozygous and heterozygous carriers of the Wilsonian gene contain, together with normal ceruloplasmin (CP), a CP-like protein that differs from CP in its enzymatic, immunological, and physicochemical properties. The CP-like protein was isolated from the sera of patients with hepatolenticular(More)
The activity of microvillar enzymes--gamma-glutamyltranspeptidase, aminopeptidase, general and intestinal forms of alkalyne phosphotases was studied in amniotic fluid (AF) of 33 women with 25% risk of cystic fibrosis (CF) (mucoviscidoses) in their progeny. The figures obtained in this group were compared with corresponding values of the same enzymes in 100(More)
AIM Examination of clinical polymorphism of chronic obstructive pulmonary diseases (COPD) in defects of oxalate metabolism to make diagnostic outpatient screening of the preclinical stage. MATERIAL AND METHODS Diagnostic dysgenetic markers of respiratory oxalosis (RO)--red hair in monthers and 24-h oxaluria--were studied in 28 women and 7 men. 8 women(More)
A specific novel molecular form of ceruloplasmin (CP) was detected in the sera of Wilson's disease patients and their closest relatives using two-dimensional cross-immunoelectrophoresis. This protein shares some antigenic properties with normal CP but is not completely identical to the latter. Besides, anomalous CP has no oxidase activity of normal CP and(More)