{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T05:23:07Z","timestamp":1788672187706,"version":"build-2803163510"},"reference-count":27,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"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":[[2017]]},"abstract":"<b><i>Background:<\/i><\/b> Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2\/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. Mutations were also described in the prion-like domain of hnRNPA1 in patients with classic ALS. Another hnRNP protein, hnRNPA3, has been found to be associated with the ALS\/frontotemporal dementia protein C9orf72. <b><i>Objective:<\/i><\/b> To further assess their role in ALS, we examined these hnRNPs in spinal cord tissue from sporadic (SALS) and familial ALS (FALS) patients, including <i>C9orf72<\/i> repeat expansion-positive patients, and controls. We also sought to determine the prevalence of <i>HNRNPA1<\/i>, <i>HNRNPA2B1,<\/i> and <i>HNRNPA3<\/i> mutations in Australian ALS patients. <b><i>Methods:<\/i><\/b> Immunostaining was used to assess hnRNPs in ALS patient spinal cords. Mutation analysis of the <i>HNRNPA1<\/i>, <i>HNRNPA2B1,<\/i> and <i>HNRNPA3 <\/i>genes was performed in FALS and of their prion-like domains in SALS patients. <b><i>Results:<\/i><\/b> Immunostaining of spinal motor neurons of ALS patients with the <i>C9orf72<\/i> repeat expansion showed significant mislocalisation of hnRNPA3, and no differences in hnRNPA1 or A2\/B1 localisation, compared to controls. No novel or known mutations were identified in <i>HNRNPA1<\/i>, <i>HNRNPA2B1,<\/i> or <i>HNRNPA3<\/i> in Australian ALS patients. <b><i>Conclusions:<\/i><\/b> hnRNPA3 pathology was identified in motor neurons of ALS patients with<i> C9orf72<\/i> repeat expansions, implicating hnRNPA3 in the pathogenesis of <i>C9orf72<\/i>-linked ALS. hnRNPA3 warrants further investigation into the pathogenesis of ALS linked to <i>C9orf72<\/i>. This study also determined that <i>HNRNP<\/i> mutations are not a common cause of FALS and SALS in Australia.<\/jats:p>","DOI":"10.1159\/000481258","type":"journal-article","created":{"date-parts":[[2017,11,10]],"date-time":"2017-11-10T22:01:16Z","timestamp":1510351276000},"page":"304-312","source":"Crossref","is-referenced-by-count":32,"title":["Genetic and Pathological Assessment of hnRNPA1, hnRNPA2\/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis"],"prefix":"10.1159","volume":"17","author":[{"given":"Jennifer A.","family":"Fifita","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharine Y.","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmin","family":"Galper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly L.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily P.","family":"McCann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison L.","family":"Hogan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Saunders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denis","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid S.","family":"Tarr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Pamphlett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garth A.","family":"Nicholson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic","family":"Rowe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian P.","family":"Blair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2017,11,11]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000172911.39167.b6"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1134108"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1380-1"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12973"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3584"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/nature11922"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12153"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-013-1088-7"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.15252\/embr.201541724"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.01.152"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2013.05.025"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2013.09.016"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2019"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1080\/146608200300079536"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu036"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.11.010"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093\/biostatistics\/kxp050"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1126\/science.1069424"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1126\/science.1165942"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M200050200"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu216"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038\/nature14973"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038\/nature14974"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4085"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M505557200"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0221-x"}],"container-title":["Neurodegenerative Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/481258","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/481258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:00:31Z","timestamp":1745427631000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000481258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":27,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,12,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000481258","archive":["Portico"],"relation":{},"ISSN":["1660-2854","1660-2862"],"issn-type":[{"value":"1660-2854","type":"print"},{"value":"1660-2862","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}