| 19062530 |
Baranov VS, Kiselev AV, Vakharlovskii VG, Zhelezniakova GIu, Komantsev VN, Malysheva OV, Glotov AS, Ivashchenko TE, Baranov AN: [Molecular genetic basis of proximal spinal muscular atrophy and experience in its pharmaceutical treatment]. Genetika. 2008 Oct;44(10):1325-37.
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 small nuclear ribonucleoproteins (snRNPs), and the principles and prdblems of molecular diagnosis in SMA are described. Special consideration is given to the current approaches and prospects of gene and cell therapy of SMA, pharmacogenetic methods to correct the SMN2 function, and original results of long-term treatment of SMA patients with valproic acid drugs. |
31(0,1,1,1) |