{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T23:17:57Z","timestamp":1789341477926,"version":"build-2803163510"},"reference-count":106,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T00:00:00Z","timestamp":1714780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Amelia Pais-Rodriguez and Marcus Gerbich"},{"DOI":"10.13039\/100000864","name":"Michael J Fox Foundation","doi-asserted-by":"publisher","award":["16420"],"award-info":[{"award-number":["16420"]}],"id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Health Research Council Sir Charles Hercus Health Research Fellowship"},{"name":"Marsden FastStart and Rutherford Discovery Fellowship"},{"DOI":"10.13039\/501100001509","name":"Royal Society of New Zealand","doi-asserted-by":"publisher","award":["15-UOA-157"],"award-info":[{"award-number":["15-UOA-157"]}],"id":[{"id":"10.13039\/501100001509","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001509","name":"Royal Society of New Zealand","doi-asserted-by":"publisher","award":["15-UOA-003"],"award-info":[{"award-number":["15-UOA-003"]}],"id":[{"id":"10.13039\/501100001509","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Alzheimer\u2019s Disease Research and Education"},{"name":"Sir Thomas and Lady Duncan Trust"},{"name":"Coker Family Trust"},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council of Australia","doi-asserted-by":"publisher","award":["2011120"],"award-info":[{"award-number":["2011120"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Neuron Disease NZ"},{"DOI":"10.13039\/501100003189","name":"Freemasons Foundation of New Zealand","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003189","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Matteo de Nora"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Pathogenic variants in the UBQLN2 gene cause X-linked dominant amyotrophic lateral sclerosis and\/or frontotemporal dementia characterized by ubiquilin 2 aggregates in neurons of the motor cortex, hippocampus and spinal cord. However, ubiquilin 2 neuropathology is also seen in sporadic and familial amyotrophic lateral sclerosis and\/or frontotemporal dementia cases not caused by UBQLN2 pathogenic variants, particularly C9orf72-linked cases. This makes the mechanistic role of mutant ubiquilin 2 protein and the value of ubiquilin 2 pathology for predicting genotype unclear. Here we examine a cohort of 44 genotypically diverse amyotrophic lateral sclerosis cases with or without frontotemporal dementia, including eight cases with UBQLN2 variants [resulting in p.S222G, p.P497H, p.P506S, p.T487I (two cases) and p.P497L (three cases)].<\/jats:p>\n               <jats:p>Using multiplexed (five-label) fluorescent immunohistochemistry, we mapped the co-localization of ubiquilin 2 with phosphorylated TDP-43, dipeptide repeat aggregates and p62 in the hippocampus of controls (n = 6), or amyotrophic lateral sclerosis with or without frontotemporal dementia in sporadic (n = 20), unknown familial (n = 3), SOD1-linked (n = 1), FUS-linked (n = 1), C9orf72-linked (n = 5) and UBQLN2-linked (n = 8) cases.<\/jats:p>\n               <jats:p>We differentiate between (i) ubiquilin 2 aggregation together with phosphorylated TDP-43 or dipeptide repeat proteins; and (ii) ubiquilin 2 self-aggregation promoted by UBQLN2 pathogenic variants that cause amyotrophic lateral sclerosis and\/or frontotemporal dementia. Overall, we describe a hippocampal protein aggregation signature that fully distinguishes mutant from wild-type ubiquilin 2 in amyotrophic lateral sclerosis with or without frontotemporal dementia, whereby mutant ubiquilin 2 is more prone than wild-type to aggregate independently of driving factors.<\/jats:p>\n               <jats:p>This neuropathological signature can be used to assess the pathogenicity of UBQLN2 gene variants and to understand the mechanisms of UBQLN2-linked disease.<\/jats:p>","DOI":"10.1093\/brain\/awae140","type":"journal-article","created":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T16:40:07Z","timestamp":1714840807000},"page":"3547-3561","source":"Crossref","is-referenced-by-count":14,"title":["Hippocampal aggregation signatures of pathogenic <i>UBQLN2<\/i> in amyotrophic lateral sclerosis and frontotemporal dementia"],"prefix":"10.1093","volume":"147","author":[{"given":"Kyrah M","family":"Thumbadoo","sequence":"first","affiliation":[{"name":"School of Biological Sciences, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birger V","family":"Dieriks","sequence":"additional","affiliation":[{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Department of Anatomy and Medical Imaging, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8707-7657","authenticated-orcid":false,"given":"Helen C","family":"Murray","sequence":"additional","affiliation":[{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Department of Anatomy and Medical Imaging, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4381-5520","authenticated-orcid":false,"given":"Molly E V","family":"Swanson","sequence":"additional","affiliation":[{"name":"School of Biological Sciences, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Department of Anatomy and Medical Imaging, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Hun","family":"Yoo","sequence":"additional","affiliation":[{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Department of Pharmacology and Clinical Pharmacology, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasim F","family":"Mehrabi","sequence":"additional","affiliation":[{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Department of Anatomy and Medical Imaging, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2138-7633","authenticated-orcid":false,"given":"Clinton","family":"Turner","sequence":"additional","affiliation":[{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Department of Anatomy and Medical Imaging, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Department of Anatomical Pathology, LabPlus, Auckland City Hospital , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Dragunow","sequence":"additional","affiliation":[{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Department of Pharmacology and Clinical Pharmacology, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard L M","family":"Faull","sequence":"additional","affiliation":[{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Department of Anatomy and Medical Imaging, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurice A","family":"Curtis","sequence":"additional","affiliation":[{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Department of Anatomy and Medical Imaging, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teepu","family":"Siddique","sequence":"additional","affiliation":[{"name":"Department of Neurology, Northwestern University Feinberg School of Medicine , Chicago, IL 60611 ,","place":["USA"]},{"name":"Department of Cell and Developmental Biology, Northwestern University Feinberg School of Medicine , Chicago, IL 60611 ,","place":["USA"]},{"name":"Department of Pathology, Northwestern University Feinberg School of Medicine , Chicago, IL 60611 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher E","family":"Shaw","sequence":"additional","affiliation":[{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"UK Dementia Research Institute Centre, Institute of Psychiatry, Psychology and Neuroscience, King\u2019s College London , London SE5 8AF ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy L","family":"Newell","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Indiana University School of Medicine , Indianapolis, IN 46202 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyndal","family":"Henden","sequence":"additional","affiliation":[{"name":"Macquarie University Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University , Sydney, New South Wales 2109 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly L","family":"Williams","sequence":"additional","affiliation":[{"name":"Macquarie University Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University , Sydney, New South Wales 2109 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garth A","family":"Nicholson","sequence":"additional","affiliation":[{"name":"Macquarie University Motor Neuron Disease Research Centre, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University , Sydney, New South Wales 2109 ,","place":["Australia"]},{"name":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute , Concord, New South Wales 2139 ,","place":["Australia"]},{"name":"Faculty of Medicine, University of Sydney , Sydney, New South Wales 2050 ,","place":["Australia"]},{"name":"Molecular Medicine Laboratory, Concord Repatriation General Hospital , Concord, New South Wales 2139 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5541-7637","authenticated-orcid":false,"given":"Emma L","family":"Scotter","sequence":"additional","affiliation":[{"name":"School of Biological Sciences, University of Auckland , Auckland 1010 ,","place":["New Zealand"]},{"name":"Centre for Brain Research, University of Auckland , Auckland 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,5,4]]},"reference":[{"key":"2024100318022932700_awae140-B1","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/nature10353","article-title":"Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS\/dementia","volume":"477","author":"Deng","year":"2011","journal-title":"Nature"},{"key":"2024100318022932700_awae140-B2","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/1471-2148-14-63","article-title":"The ubiquilin gene family: Evolutionary patterns and functional insights","volume":"14","author":"Mar\u00edn","year":"2014","journal-title":"BMC Evol Biol"},{"key":"2024100318022932700_awae140-B3","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/j.cell.2016.07.001","article-title":"UBQLN2 mediates autophagy-independent protein Aggregate clearance by the proteasome","volume":"166","author":"Hjerpe","year":"2016","journal-title":"Cell"},{"key":"2024100318022932700_awae140-B4","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.molcel.2016.05.020","article-title":"Ubiquilins chaperone and triage mitochondrial membrane proteins for degradation","volume":"63","author":"Itakura","year":"2016","journal-title":"Mol Cell"},{"key":"2024100318022932700_awae140-B5","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.tcb.2016.05.004","article-title":"Principles and properties of stress granules","volume":"26","author":"Protter","year":"2016","journal-title":"Trends Cell Biol"},{"key":"2024100318022932700_awae140-B6","doi-asserted-by":"crossref","first-page":"15230","DOI":"10.1073\/pnas.1917371117","article-title":"ALS\/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function","volume":"117","author":"Wu","year":"2020","journal-title":"Proc Natl Acad Sci U S A."},{"key":"2024100318022932700_awae140-B7","doi-asserted-by":"crossref","first-page":"E11485","DOI":"10.1073\/pnas.1811997115","article-title":"Ubiquilin 2 modulates ALS\/FTD-linked FUS\u2013RNA complex dynamics and stress granule formation","volume":"115","author":"Alexander","year":"2018","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024100318022932700_awae140-B8","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/j.molcel.2018.02.004","article-title":"Ubiquitin modulates liquid-liquid phase separation of UBQLN2 via disruption of multivalent interactions","volume":"69","author":"Dao","year":"2018","journal-title":"Mol Cell"},{"key":"2024100318022932700_awae140-B9","doi-asserted-by":"crossref","first-page":"E10495","DOI":"10.1073\/pnas.1810522115","article-title":"Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly","volume":"115","author":"Sharkey","year":"2018","journal-title":"Proc Natl Acad Sci U S A."},{"key":"2024100318022932700_awae140-B10","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/j.molcel.2018.02.030","article-title":"Ubiquilin 2: Shuttling clients out of phase?","volume":"69","author":"Subudhi","year":"2018","journal-title":"Mol Cell"},{"key":"2024100318022932700_awae140-B11","doi-asserted-by":"crossref","first-page":"229.e5","DOI":"10.1016\/j.neurobiolaging.2018.08.015","article-title":"Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia","volume":"73","author":"Gkazi","year":"2019","journal-title":"Neurobiol Aging"},{"key":"2024100318022932700_awae140-B12","doi-asserted-by":"crossref","first-page":"2527.e3","DOI":"10.1016\/j.neurobiolaging.2012.05.008","article-title":"UBQLN2\/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis","volume":"33","author":"Williams","year":"2012","journal-title":"Neurobiol Aging"},{"key":"2024100318022932700_awae140-B13","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1111\/cge.12973","article-title":"The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia","volume":"92","author":"McCann","year":"2017","journal-title":"Clin Genet"},{"key":"2024100318022932700_awae140-B14","first-page":"1","article-title":"Defective proteasome delivery of polyubiquitinated proteins by ubiquilin-2 proteins containing ALS mutations","volume":"10","author":"Chang","year":"2015","journal-title":"PLoS One"},{"key":"2024100318022932700_awae140-B15","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1016\/j.str.2019.03.012","article-title":"ALS-Linked Mutations affect UBQLN2 oligomerization and phase separation in a position- and amino acid-dependent manner","volume":"27","author":"Dao","year":"2019","journal-title":"Structure"},{"key":"2024100318022932700_awae140-B16","doi-asserted-by":"crossref","first-page":"2565","DOI":"10.1093\/hmg\/ddv020","article-title":"ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1","volume":"24","author":"Gilpin","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2024100318022932700_awae140-B17","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1016\/j.str.2019.05.006","article-title":"Lou Gehrig\u2019s disease (ALS): UBQLN2 mutations strike out of phase","volume":"27","author":"Higgins","year":"2019","journal-title":"Structure"},{"key":"2024100318022932700_awae140-B18","first-page":"846","article-title":"Association between rare UBQLN2 variants and amyotrophic lateral sclerosis in Chinese population","volume":"101","author":"Chen","year":"2021","journal-title":"Natl Med J China"},{"key":"2024100318022932700_awae140-B19","doi-asserted-by":"crossref","first-page":"1957.e7","DOI":"10.1016\/j.neurobiolaging.2014.03.001","article-title":"Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis","volume":"35","author":"Kim H jung","year":"2014","journal-title":"Neurobiol Aging"},{"key":"2024100318022932700_awae140-B20","doi-asserted-by":"crossref","first-page":"25","DOI":"10.2174\/1874220302007010025","article-title":"Early-onset of frontotemporal dementia and amyotrophic lateral sclerosis in an Albanian patient with a c.1319C&gt;T variant in the UBQLN2 gene","volume":"7","author":"Baglivo","year":"2020","journal-title":"Open Med J"},{"key":"2024100318022932700_awae140-B21","doi-asserted-by":"crossref","first-page":"2230.e1","DOI":"10.1016\/j.neurobiolaging.2012.03.015","article-title":"UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral 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