{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T02:51:56Z","timestamp":1791341516122,"version":"4.3.1"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,10,11]],"date-time":"2016-10-11T00:00:00Z","timestamp":1476144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008168","name":"Spinal Muscular Atrophy Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008168","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008164","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008164","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01\u2010HD054599"],"award-info":[{"award-number":["R01\u2010HD054599"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Anatomy"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinal muscular atrophy (<jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>), traditionally described as a predominantly childhood form of motor neurone disease, is the leading genetic cause of infant mortality. Although motor neurones are undoubtedly the primary affected cell type, the severe infantile form of <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> (Type I <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>) is now widely recognised to represent a multisystem disorder where a variety of organs and systems in the body are also affected. Here, we report that the spleen is disproportionately small in the \u2018Taiwanese\u2019 murine model of severe <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> (<jats:italic>Smn<\/jats:italic><jats:sup><jats:italic>\u2212\/\u2212<\/jats:italic><\/jats:sup><jats:italic>;<jats:styled-content style=\"fixed-case\">SMN<\/jats:styled-content>2<\/jats:italic><jats:sup><jats:italic>tg\/0<\/jats:italic><\/jats:sup>), correlated to low levels of cell proliferation and increased cell death. Spleen lacks its distinctive red appearance and presents with a degenerated capsule and a disorganised fibrotic architecture. Histologically distinct white pulp failed to form and this was reflected in an almost complete absence of B lymphocytes necessary for normal immune function. In addition, megakaryoctyes persisted in the red pulp. However, the vascular density remained unchanged in <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> spleen. Assessment of the spleen in <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> patients with the infantile form of the disease indicated a range of pathologies. We conclude that development of the spleen fails to occur normally in <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content> mouse models and human patients. Thus, further analysis of immune function is likely to be required to fully understand the full extent of systemic disease pathology in <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/joa.12546","type":"journal-article","created":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T14:28:43Z","timestamp":1476368923000},"page":"337-346","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Survival of motor neurone protein is required for normal postnatal development of the spleen"],"prefix":"10.1111","volume":"230","author":[{"given":"Alison K.","family":"Thomson","sequence":"first","affiliation":[{"name":"Institute of Medical Sciences University of Aberdeen Aberdeen Scotland"},{"name":"Euan MacDonald Centre for Motor Neurone Disease Research Edinburgh Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eilidh","family":"Somers","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research Edinburgh Scotland"},{"name":"Centre for Integrative Physiology University of Edinburgh Edinburgh Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael A.","family":"Powis","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research Edinburgh Scotland"},{"name":"Centre for Integrative Physiology University of Edinburgh Edinburgh Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah K.","family":"Shorrock","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research Edinburgh Scotland"},{"name":"Centre for Integrative Physiology University of Edinburgh Edinburgh Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelley","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Biology Morgan State University Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn J.","family":"Swoboda","sequence":"additional","affiliation":[{"name":"Department of Neurology Center for Human Genetics Research Massachusetts General Hospital Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas H.","family":"Gillingwater","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research Edinburgh Scotland"},{"name":"Centre for Integrative Physiology University of Edinburgh Edinburgh Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon H.","family":"Parson","sequence":"additional","affiliation":[{"name":"Institute of Medical Sciences University of Aberdeen Aberdeen Scotland"},{"name":"Euan MacDonald Centre for Motor Neurone Disease Research Edinburgh Scotland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.01.071"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23582"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2013.10.010"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/pdb.prot073411"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/01926230600867743"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7580.2007.00790.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1003770"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e31821cbd8b"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80059-8"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-08-449181"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2012.11.002"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/71709"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt612"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw141"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(03)00075-5"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01002772"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.2147\/JBM.S7224"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.062621699"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni.2983"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.190.1.75"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3181a10ea1"},{"issue":"1","key":"e_1_2_7_23_1","first-page":"45","article-title":"Sampling schemes for estimating nerve fibre size. I. Methods for nerve trunks of mixed fascicularity","volume":"139","author":"Mayhew TM","year":"1984","journal-title":"J Anat"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri1669"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1177"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.3.333"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr360"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/eji.201242471"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1401905"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2567.2002.01443.x"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep20193"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/joa.12419"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2014.11.007"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq023"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv148"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057950"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21654"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.222"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq329"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/joa.12083"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2566"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0155032"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.10.021"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24549"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mvr.2010.09.002"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20111449"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq340"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI71318"}],"container-title":["Journal of Anatomy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjoa.12546","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjoa.12546","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/joa.12546","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T03:36:45Z","timestamp":1696217805000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/joa.12546"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,11]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1111\/joa.12546"],"URL":"https:\/\/doi.org\/10.1111\/joa.12546","archive":["Portico"],"relation":{},"ISSN":["0021-8782","1469-7580"],"issn-type":[{"value":"0021-8782","type":"print"},{"value":"1469-7580","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,11]]},"assertion":[{"value":"2016-08-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-10-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}