{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T03:43:09Z","timestamp":1791085389284,"version":"4.1.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurosci"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Spinal Muscular Atrophy (SMA) is the leading genetic cause of infantile death. It is caused by the loss of functional <jats:italic>Survival Motor Neuron 1<\/jats:italic> (<jats:italic>SMN1<\/jats:italic>). There is a nearly identical copy gene, <jats:italic>SMN2<\/jats:italic>, but it is unable to rescue from disease due to an alternative splicing event that excises a necessary exon (exon 7) from the majority of <jats:italic>SMN2<\/jats:italic>-derived transcripts. While SMN\u03947 protein has severely reduced functionality, the exon 7 sequences may not be specifically required for all activities. Therefore, aminoglycoside antibiotics previously shown to suppress stop codon recognition and promote translation read-through have been examined to increase the length of the SMN\u03947 C-terminus.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Here we demonstrate that subcutaneous-administration of a read-through inducing compound (TC007) to an intermediate SMA model (<jats:italic>Smn<\/jats:italic>-\/-; <jats:italic>SMN2<\/jats:italic>+\/+; SMN\u03947) had beneficial effects on muscle fiber size and gross motor function.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Delivery of the read-through inducing compound TC007 reduces the disease-associated phenotype in SMA mice, however, does not significantly extend survival.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2202-10-142","type":"journal-article","created":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T07:16:22Z","timestamp":1259651782000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA"],"prefix":"10.1186","volume":"10","author":[{"given":"Virginia B","family":"Mattis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina Y","family":"Fosso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng-Wei","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian L","family":"Lorson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,11,30]]},"reference":[{"issue":"5-6","key":"1146_CR1","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","volume":"2","author":"TL Munsat","year":"1992","unstructured":"Munsat TL, Davies KE: International SMA consortium meeting. 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