{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T04:59:41Z","timestamp":1790139581328,"version":"4.0.1"},"reference-count":73,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T00:00:00Z","timestamp":1693180800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R00NS123242"],"award-info":[{"award-number":["R00NS123242"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"NIH National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS132836"],"award-info":[{"award-number":["R01NS132836"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012312","name":"Robert Packard Center for ALS Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012312","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have recently identified the aberrant nuclear accumulation of the ESCRT-III protein CHMP7 as an initiating event that leads to a significant injury to the nuclear pore complex (NPC) characterized by the reduction of specific nucleoporins from the neuronal NPC in sporadic amyotrophic lateral sclerosis (sALS) and C9orf72 ALS\/frontotemporal dementia (FTD)-induced pluripotent stem cell-derived neurons (iPSNs), a phenomenon also observed in post-mortem patient tissues. Importantly, this NPC injury is sufficient to contribute to TDP-43 dysfunction and mislocalization, a common pathological hallmark of neurodegenerative diseases. However, the molecular mechanisms and events that give rise to increased nuclear translocation and\/or retention of CHMP7 to initiate this pathophysiological cascade remain largely unknown. Here, using an iPSN model of sALS, we demonstrate that impaired NPC permeability barrier integrity and interactions with the LINC complex protein SUN1 facilitate CHMP7 nuclear localization and the subsequent \u2018activation\u2019 of NPC injury cascades. Collectively, our data provide mechanistic insights in the pathophysiological underpinnings of ALS\/FTD and highlight SUN1 as a potent contributor to and modifier of CHMP7-mediated toxicity in sALS pathogenesis.<\/jats:p>","DOI":"10.1093\/brain\/awad291","type":"journal-article","created":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T21:07:29Z","timestamp":1692997649000},"page":"109-121","source":"Crossref","is-referenced-by-count":40,"title":["SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis"],"prefix":"10.1093","volume":"147","author":[{"given":"Victoria","family":"Baskerville","sequence":"first","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD 21205 , USA"},{"name":"Brain Science Institute, Johns Hopkins University School of Medicine , Baltimore, MD 21205 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sampath","family":"Rapuri","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD 21205 , USA"},{"name":"Brain Science Institute, Johns Hopkins University School of Medicine , Baltimore, MD 21205 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Mehlhop","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD 21205 , USA"},{"name":"Brain Science Institute, Johns Hopkins University School of Medicine , Baltimore, MD 21205 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3658-5325","authenticated-orcid":false,"given":"Alyssa N","family":"Coyne","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD 21205 , USA"},{"name":"Brain Science Institute, Johns Hopkins University School of Medicine , Baltimore, MD 21205 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,8,28]]},"reference":[{"key":"2024010419101818500_awad291-B1","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS","volume":"72","author":"DeJesus-Hernandez","year":"2011","journal-title":"Neuron"},{"key":"2024010419101818500_awad291-B2","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked 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