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BICD2 is a key component of the cytoplasmic dynein\/dynactin motor complex, which in axons drives the microtubule-dependent retrograde transport of intracellular cargo towards the cell soma. Patients with pathological mutations in\n                    <jats:italic>BICD2<\/jats:italic>\n                    develop malformations of cortical and cerebellar development similar to\n                    <jats:italic>Bicd2<\/jats:italic>\n                    knockout (\u2212\/\u2212) mice. In this study we sought to re-examine the motor neuron phenotype of conditional\n                    <jats:italic>Bicd2<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>\u2212\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    mice.\n                    <jats:italic>Bicd2<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>\u2212\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    mice show a significant reduction in the number of large calibre motor neurons of the L4 ventral root compared to wild type mice. Muscle-specific knockout of\n                    <jats:italic>Bicd2<\/jats:italic>\n                    results in a similar reduction in L4 ventral axons comparable to global\n                    <jats:italic>Bicd2<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>\u2212\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    mice. Rab6, a small GTPase required for the sorting of exocytic vesicles from the Trans Golgi Network to the plasma membrane is a major binding partner of BICD2. We therefore examined the secretory pathway in SMALED2 patient fibroblasts and demonstrated that BICD2 is required for physiological flow of constitutive secretory cargoes from the Trans Golgi Network to the plasma membrane using a VSV-G reporter assay. Together, these data indicate that BICD2 loss from muscles is a major driver of non-cell autonomous pathology in the motor nervous system, which has important implications for future therapeutic approaches in SMALED2.\n                  <\/jats:p>","DOI":"10.1186\/s40478-020-00909-6","type":"journal-article","created":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T06:02:39Z","timestamp":1584424959000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy"],"prefix":"10.1186","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4648-2896","authenticated-orcid":false,"given":"Alexander M.","family":"Rossor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James N.","family":"Sleigh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Groves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casper C.","family":"Hoogenraad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4319-8745","authenticated-orcid":false,"given":"Giampietro","family":"Schiavo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,17]]},"reference":[{"key":"909_CR1","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1016\/j.ajhg.2013.04.018","volume":"92","author":"EC Oates","year":"2013","unstructured":"Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, Macarthur DG et al (2013) Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. 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