Title: Nusinersen in the treatment of 5q spinal muscular atrophy (Sponsor: Biogen GmbH, München)
Abstract: Abstract Due to a mutation in the SMN1 gene on chromosome 5, in 5q-SMA there is a deficiency in the survival of motor neuron protein (SMA) which is essential for motor neurons. This leads to a degeneration of the 2nd motor neuron and progressive weakness and atrophy of the affected muscles. The targeted splicing modulator nusinersen (Spinraza®), an antisense oligonucleotide that binds to the SMN2-RNA, leads to increased production of functional SMN protein. This stabilizes the disease and improves muscle function.
Publication Year: 2020
Publication Date: 2020-03-01
Language: en
Type: article
Indexed In: ['crossref']
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