| Autor: |
Ponomarev AS; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia., Chulpanova DS; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia., Yanygina LM; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia., Solovyeva VV; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia., Rizvanov AA; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia. |
| Jazyk: |
angličtina |
| Zdroj: |
International journal of molecular sciences [Int J Mol Sci] 2023 Sep 06; Vol. 24 (18). Date of Electronic Publication: 2023 Sep 06. |
| DOI: |
10.3390/ijms241813743 |
| Abstrakt: |
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease that is characterized by progressive muscle atrophy (degeneration), including skeletal muscles in charge of the ability to move. SMA is caused by defects in the SMN1 gene (Survival of Motor Neuron 1) which encodes a protein crucial for the survival and functionality of neuron cells called motor neurons. Decreased level of functioning SMN protein leads to progressive degeneration of alpha-motor neurons performing muscular motility. Over the past decade, many strategies directed for SMN-level-restoration emerged, such as gene replacement therapy (GRT), CRISPR/Cas9-based gene editing, usage of antisense oligonucleotides and small-molecule modulators, and all have been showing their perspectives in SMA therapy. In this review, modern SMA therapy strategies are described, making it a valuable resource for researchers, clinicians and everyone interested in the progress of therapy of this serious disorder. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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