To investigate how SMA-linked mutations of SMN 1 lead to structural/functional deficiency of SMN, a set of computational analysis of SMN-related structures were conducted and are described in this article. As the product of SMN 1, SMN is a component of the SMN complex, and is also involved in the biosynthesis of the small nuclear ribonucleoproteins (snRNPs, which play critical roles in pre- mRNA splicing in the pathogenesis of SMA. SMA is caused by loss (âˆ❉5% of SMA cases or mutation (âˆ❅% of SMA cases of the survival motor neuron 1 gene SMN 1. How do SMA-linked mutations of SMN 1 lead to structural/functional deficiency of the SMA protein?ĭirectory of Open Access Journals (Sweden)įull Text Available Spinal muscular atrophy ( SMA is an autosomal recessive neuromuscular disease with dysfunctional α-motor neurons in the anterior horn of the spinal cord.
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