{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T23:59:44Z","timestamp":1790985584731,"version":"4.1.0"},"reference-count":35,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurodegener Dis"],"published-print":{"date-parts":[[2008]]},"abstract":"<jats:p>Autosomal recessive mutations in the &lt;i&gt;ALS2&lt;\/i&gt; gene have been linked to juvenile-onset amyotrophic lateral sclerosis (ALS2), primary lateral sclerosis and juvenile-onset ascending hereditary spastic paraplegia. Except for two recently identified missense mutations, all other mutations in the &lt;i&gt;ALS2 &lt;\/i&gt;gene lead to a premature stop codon and likely abrogate all the potential functions of alsin, the protein encoded by the &lt;i&gt;ALS2&lt;\/i&gt; gene. To study the pathologic mechanisms of &lt;i&gt;ALS2&lt;\/i&gt; deficiency, four different lines of &lt;i&gt;ALS2 &lt;\/i&gt;knockout (&lt;i&gt;ALS2&lt;\/i&gt;&lt;sup&gt;\u2013\/\u2013&lt;\/sup&gt;) mice have been generated by independent groups. The loss of &lt;i&gt;ALS2&lt;\/i&gt;\/alsin does not have a drastic effect on the survival or function of motor neurons in mice. However, subtle deficits observed in the behavior and pathology of these mice have aided in our understanding of the relationship between alsin and motor neuron dysfunction. In this review, we summarize and reconcile major findings of &lt;i&gt;ALS2&lt;\/i&gt;&lt;sup&gt;\u2013\/\u2013&lt;\/sup&gt; mice and attempt to place these results within the larger context of modeling recessive movement disorders in mice.<\/jats:p>","DOI":"10.1159\/000151295","type":"journal-article","created":{"date-parts":[[2008,8,20]],"date-time":"2008-08-20T06:03:01Z","timestamp":1219212181000},"page":"359-366","source":"Crossref","is-referenced-by-count":36,"title":["ALS2\/Alsin Knockout Mice and Motor Neuron Diseases"],"prefix":"10.1159","volume":"5","author":[{"given":"Huaibin","family":"Cai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoon","family":"Shim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Lai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengsong","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xian","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan Jou","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayanth","family":"Chandran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2008,8,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2F35097565"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1001-160"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1146%2Fannurev.neuro.27.070203.144244"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1001-166"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawl104"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.20879"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.2635267100"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2F113.2.347"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1086%2F342359"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1523%2FJNEUROSCI.1645-05.2005"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddi440"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.0510197103"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.20888"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddm251"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddg184"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0597-19"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016%2F0896-6273%2895%2990259-7"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007%2Fs003359900551"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0794-425"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1086%2F342359"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1034%2Fj.1399-0004.2003.00138.x"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.febslet.2004.07.092"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M313504200"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038%2F32204"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.20886"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038%2F35042605"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410380424"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M410508200"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neurobiolaging.2006.07.014"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1523%2FJNEUROSCI.2084-06.2006"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.conb.2006.05.004"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature743"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1016%2FS0166-2236%2802%2902270-1"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1602%2Fneurorx.2.3.495"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.conb.2007.04.010"}],"container-title":["Neurodegenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/151295","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/151295","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T19:42:53Z","timestamp":1715974973000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/NDD\/article\/doi\/10.1159\/000151295"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":35,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2008,9,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000151295","archive":["Portico"],"relation":{},"ISSN":["1660-2854","1660-2862"],"issn-type":[{"value":"1660-2854","type":"print"},{"value":"1660-2862","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008]]}}}