{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T19:13:42Z","timestamp":1783970022063,"version":"3.55.0"},"reference-count":60,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,6,20]],"date-time":"2015-06-20T00:00:00Z","timestamp":1434758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Health","award":["GR-2009-1483560"],"award-info":[{"award-number":["GR-2009-1483560"]}]},{"name":"Ministry of Health","award":["GR-2010-2309463"],"award-info":[{"award-number":["GR-2010-2309463"]}]},{"name":"FIRB","award":["RBFR08RV86"],"award-info":[{"award-number":["RBFR08RV86"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinal muscular atrophy with respiratory distress (<jats:styled-content style=\"fixed-case\">SMARD<\/jats:styled-content>1) is an autosomal recessive neuromuscular disease caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">IGHMBP<\/jats:styled-content>2<\/jats:italic> gene, encoding the immunoglobulin \u03bc\u2010binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early onset in infancy in the majority of the cases. The main clinical features are muscular atrophy and diaphragmatic palsy, which requires prompt and permanent supportive ventilation. The human disease is recapitulated in the neuromuscular degeneration (<jats:italic>nmd<\/jats:italic>) mouse. No effective treatment is available yet, but novel therapeutical approaches tested on the <jats:italic>nmd<\/jats:italic> mouse, such as the use of neurotrophic factors and stem cell therapy, have shown positive effects. Gene therapy demonstrated effectiveness in <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>, being now at the stage of clinical trial in patients and therefore representing a possible treatment for <jats:styled-content style=\"fixed-case\">SMARD<\/jats:styled-content>1 as well. The significant advancement in understanding of both <jats:styled-content style=\"fixed-case\">SMARD<\/jats:styled-content>1 clinical spectrum and molecular mechanisms makes ground for a rapid translation of pre\u2010clinical therapeutic strategies in humans.<\/jats:p>","DOI":"10.1111\/jcmm.12606","type":"journal-article","created":{"date-parts":[[2015,6,21]],"date-time":"2015-06-21T04:26:51Z","timestamp":1434860811000},"page":"2058-2066","source":"Crossref","is-referenced-by-count":15,"title":["Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1"],"prefix":"10.1111","volume":"19","author":[{"given":"Fiammetta","family":"Vanoli","sequence":"first","affiliation":[{"name":"Dino Ferrari Centre Neuroscience Section Department of Pathophysiology and Transplantation (DEPT) University of Milan Neurology Unit IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Rinchetti","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre Neuroscience Section Department of Pathophysiology and Transplantation (DEPT) University of Milan Neurology Unit IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Porro","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre Neuroscience Section Department of Pathophysiology and Transplantation (DEPT) University of Milan Neurology Unit IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Parente","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre Neuroscience Section Department of Pathophysiology and Transplantation (DEPT) University of Milan Neurology Unit IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Corti","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre Neuroscience Section Department of Pathophysiology and Transplantation (DEPT) University of Milan Neurology Unit IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,20]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302636"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng703"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807310989"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.53.1.33"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330309"},{"key":"e_1_2_11_7_1","first-page":"1163","article-title":"Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations","volume":"59","author":"Rudnik\u2010Schoneborn S","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00134-006-0346-8"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-0544"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10755"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.11.013"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2004.tb01019.x"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.4187\/respcare.01115"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-820994"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.11.013"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg278"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp028"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.10.005"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.002"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh222"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2012.09.010"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.11.5857"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.76.052305.115300"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks792"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp134"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9241"},{"key":"e_1_2_11_27_1","doi-asserted-by":"crossref","first-page":"17463","DOI":"10.1016\/S0021-9258(19)85357-7","article-title":"The human S mu bp\u20102, a DNA\u2010binding protein specific to the single\u2010stranded guanine\u2010rich sequence related to the immunoglobulin mu chain switch region","volume":"268","author":"Fukita Y","year":"1993","journal-title":"J Biol Chem"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80652-2"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1006\/nbdi.1999.0266"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293010"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003350010205"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh129"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2012.12.010"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi189"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi349"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.11.006"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.72.121801.161629"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.841400"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0306-4522(96)00616-1"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu059"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1097\/PHM.0000000000000138"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0163-7258(98)00020-5"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gt.3301105"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.8.24.10245"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.drugalcdep.2007.08.004"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq514"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1610"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI41615"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3000830"},{"key":"e_1_2_11_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12393"},{"key":"e_1_2_11_51_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.12224"},{"key":"e_1_2_11_52_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.19.111301.143037"},{"key":"e_1_2_11_53_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1129987"},{"key":"e_1_2_11_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(96)10035-7"},{"key":"e_1_2_11_55_1","doi-asserted-by":"publisher","DOI":"10.1186\/scrt115"},{"key":"e_1_2_11_56_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2004.00552.x"},{"key":"e_1_2_11_57_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi446"},{"key":"e_1_2_11_58_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2734-09.2009"},{"key":"e_1_2_11_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2014.06.004"},{"key":"e_1_2_11_60_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2014.00037"},{"key":"e_1_2_11_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.02.005"}],"container-title":["Journal of Cellular and Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjcmm.12606","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjcmm.12606","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jcmm.12606","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T21:25:04Z","timestamp":1694985904000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jcmm.12606"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,20]]},"references-count":60,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1111\/jcmm.12606"],"URL":"https:\/\/doi.org\/10.1111\/jcmm.12606","archive":["Portico"],"relation":{},"ISSN":["1582-1838","1582-4934"],"issn-type":[{"value":"1582-1838","type":"print"},{"value":"1582-4934","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,20]]}}}