{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:52Z","timestamp":1791279952615,"version":"4.1.0"},"reference-count":45,"publisher":"Cold Spring Harbor Laboratory","issue":"19","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Dev."],"published-print":{"date-parts":[[2005,10,1]]},"abstract":"<jats:p>\n                    Spinal muscular atrophy (SMA) is a motoneuron disease caused by reduced levels of survival motoneuron (SMN) protein. Previous studies have assigned SMN to uridine-rich small nuclear ribonucleoprotein particle (U snRNP) assembly, splicing, transcription, and RNA localization. Here, we have used gene silencing to assess the effect of SMN protein deficiency on U snRNP metabolism in living cells and organisms. In HeLa cells, we show that reduction of SMN to levels found in SMA patients impairs U snRNP assembly. In line with this, induced silencing of SMN expression in\n                    <jats:italic>Xenopus laevis<\/jats:italic>\n                    or zebrafish arrested embryonic development. Under less severe knock-down conditions, zebrafish embryos proceeded through development yet exhibited dramatic SMA-like motor axon degeneration. The same was observed after silencing two other essential factors in the U snRNP assembly pathway, Gemin2 and pICln. Importantly, the injection of purified U snRNPs into either SMN- or Gemin2-deficient embryos of\n                    <jats:italic>Xenopus<\/jats:italic>\n                    and zebrafish prevented developmental arrest and motoneuron degeneration, respectively. These findings suggest that motoneuron degeneration in SMA patients is a direct consequence of impaired production of U snRNPs.\n                  <\/jats:p>","DOI":"10.1101\/gad.342005","type":"journal-article","created":{"date-parts":[[2005,10,3]],"date-time":"2005-10-03T18:13:00Z","timestamp":1128363180000},"page":"2320-2330","source":"Crossref","is-referenced-by-count":215,"title":["Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy"],"prefix":"10.1101","volume":"19","author":[{"given":"Christoph","family":"Winkler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Eggert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietmar","family":"Gradl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunter","family":"Meister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marieke","family":"Giegerich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Wedlich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Laggerbauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Utz","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2005,10,3]]},"reference":[{"key":"2021111607312855000_19.19.2320.1","doi-asserted-by":"crossref","first-page":"4117","DOI":"10.1242\/dev.121.12.4117","volume":"121","year":"1995","journal-title":"Development"},{"key":"2021111607312855000_19.19.2320.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0361-9230(00)00382-8"},{"key":"2021111607312855000_19.19.2320.3","doi-asserted-by":"publisher","DOI":"10.1017\/S135583820101442X"},{"key":"2021111607312855000_19.19.2320.4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M105412200"},{"key":"2021111607312855000_19.19.2320.5","doi-asserted-by":"crossref","first-page":"3509","DOI":"10.1002\/j.1460-2075.1986.tb04676.x","volume":"5","year":"1986","journal-title":"EMBO 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