{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T18:26:42Z","timestamp":1790879202807,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,3,14]],"date-time":"2012-03-14T00:00:00Z","timestamp":1331683200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurochemistry"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>J. Neurochem.<\/jats:italic> (2012) <jats:bold>121<\/jats:bold>, 465\u2013474.<\/jats:p><\/jats:sec><jats:sec><jats:title>Abstract<\/jats:title><jats:p>The axonal survival of motor neuron (a\u2010SMN) protein is a truncated isoform of <jats:italic>SMN1<\/jats:italic>, the spinal muscular atrophy (SMA) disease gene. a\u2010SMN is selectively localized in axons and endowed with remarkable axonogenic properties. At present, the role of a\u2010SMN in SMA is unknown. As a first step to verify a link between a\u2010SMN and SMA, we investigated by means of over\u2010expression experiments in neuroblastoma\u2010spinal cord hybrid cell line (NSC34) whether SMA pathogenic mutations located in the N\u2010terminal part of the protein affected a\u2010SMN function. We demonstrated here that either <jats:italic>SMN1<\/jats:italic> missense mutations or small intragenic re\u2010arrangements located in the Tudor domain consistently altered the a\u2010SMN capability of inducing axonal elongation <jats:italic>in vitro<\/jats:italic>. Mutated human a\u2010SMN proteins determined in almost all NSC34 motor neurons the growth of short axons with prominent morphologic abnormalities. Our data indicate that the Tudor domain is critical in dictating a\u2010SMN function possibly because it is an association domain for proteins involved in axon growth. They also indicate that Tudor domain mutations are functionally relevant not only for FL\u2010SMN but also for a\u2010SMN, raising the possibility that also a\u2010SMN loss of function may contribute to the pathogenic steps leading to SMA.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1471-4159.2012.07689.x","type":"journal-article","created":{"date-parts":[[2012,2,11]],"date-time":"2012-02-11T15:07:31Z","timestamp":1328972851000},"page":"465-474","source":"Crossref","is-referenced-by-count":13,"title":["Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal\u2010survival of motor neuron"],"prefix":"10.1111","volume":"121","author":[{"given":"Denise","family":"Locatelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"d\u2019Errico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Capra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"Finardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Colciaghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Setola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mineko","family":"Terao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Garattini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Battaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,3,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1104928108"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.89"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.1971"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2351"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1637-06.2006"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1001940306"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.12.1439"},{"key":"e_1_2_7_9_1","article-title":"Mutation analysis of the SMN gene in undeleted SMA patients","volume":"61","author":"Clermont O.","year":"1997","journal-title":"Am. 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