{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T06:24:28Z","timestamp":1792304668260,"version":"4.4.0"},"reference-count":68,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T00:00:00Z","timestamp":1722297600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["20K16504"],"award-info":[{"award-number":["20K16504"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["24K18165"],"award-info":[{"award-number":["24K18165"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["18K15465"],"award-info":[{"award-number":["18K15465"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["20K07361"],"award-info":[{"award-number":["20K07361"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["16K09700"],"award-info":[{"award-number":["16K09700"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["19K07830"],"award-info":[{"award-number":["19K07830"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["22H04923"],"award-info":[{"award-number":["22H04923"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["17H04049"],"award-info":[{"award-number":["17H04049"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["20H03453"],"award-info":[{"award-number":["20H03453"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["24K02243"],"award-info":[{"award-number":["24K02243"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Grants-in-Aid for Scientific Research","doi-asserted-by":"crossref","award":["18H04043"],"award-info":[{"award-number":["18H04043"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"JSPS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP23bm1423015h0001"],"award-info":[{"award-number":["JP23bm1423015h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP21wm0425019"],"award-info":[{"award-number":["JP21wm0425019"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP23dm0207070"],"award-info":[{"award-number":["JP23dm0207070"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP23dm0307101"],"award-info":[{"award-number":["JP23dm0307101"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007132","name":"Otsuka Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007132","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>CHCHD2 and CHCHD10, linked to Parkinson's disease and amyotrophic lateral sclerosis-frontotemporal dementia (ALS), respectively, are mitochondrial intermembrane proteins that form a heterodimer. This study aimed to investigate the impact of the CHCHD2 P14L variant, implicated in ALS, on mitochondrial function and its subsequent effects on cellular homeostasis. The missense variant of CHCHD2, P14L, found in a cohort of patients with ALS, mislocalized CHCHD2 to the cytoplasm, leaving CHCHD10 in the mitochondria. Drosophila lacking the CHCHD2 ortholog exhibited mitochondrial degeneration. In contrast, human CHCHD2 P14L, but not wild-type human CHCHD2, failed to suppress this degeneration, suggesting that P14L is a pathogenic variant. The mitochondrial Ca2+ buffering capacity was reduced in Drosophila neurons expressing human CHCHD2 P14L. The altered Ca2+-buffering phenotype was also observed in cultured human neuroblastoma SH-SY5Y cells expressing CHCHD2 P14L. In these cells, transient elevation of cytoplasmic Ca2+ facilitated the activation of calpain and caspase-3, accompanied by the processing and insolubilization of TDP-43. These observations suggest that CHCHD2 P14L causes abnormal Ca2+ dynamics and TDP-43 aggregation, reflecting the pathophysiology of ALS.<\/jats:p>","DOI":"10.1093\/pnasnexus\/pgae319","type":"journal-article","created":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T20:10:15Z","timestamp":1722370215000},"source":"Crossref","is-referenced-by-count":9,"title":["CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis"],"prefix":"10.1093","volume":"3","author":[{"given":"Aya","family":"Ikeda","sequence":"first","affiliation":[{"name":"Department of Neurology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-8023-7603","authenticated-orcid":false,"given":"Hongrui","family":"Meng","sequence":"additional","affiliation":[{"name":"Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"},{"name":"Department of Research for Parkinson's Disease, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8729-7016","authenticated-orcid":false,"given":"Daisuke","family":"Taniguchi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-1110-3455","authenticated-orcid":false,"given":"Muneyo","family":"Mio","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7412-3631","authenticated-orcid":false,"given":"Manabu","family":"Funayama","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"},{"name":"Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"},{"name":"Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenya","family":"Nishioka","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8520-6184","authenticated-orcid":false,"given":"Mari","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University , Nagakute, Aichi 480-1195 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanzhe","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6641-8728","authenticated-orcid":false,"given":"Hiroyo","family":"Yoshino","sequence":"additional","affiliation":[{"name":"Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuyoshi","family":"Inoshita","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kahori","family":"Shiba-Fukushima","sequence":"additional","affiliation":[{"name":"Department of Drug Development for Parkinson's Disease, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7611-3237","authenticated-orcid":false,"given":"Yohei","family":"Okubo","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pharmacology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9515-6574","authenticated-orcid":false,"given":"Takashi","family":"Sakurai","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pharmacology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taku","family":"Amo","sequence":"additional","affiliation":[{"name":"Department of Applied Chemistry, National Defense Academy , Yokosuka, Kanagawa 239-8686 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuko","family":"Aiba","sequence":"additional","affiliation":[{"name":"Department of Neurology, NHO Higashinagoya National Hospital , Meito-ku, Nagoya, Aichi 465-8620 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufuko","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Neurology, NHO Higashinagoya National Hospital , Meito-ku, Nagoya, Aichi 465-8620 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Saito","sequence":"additional","affiliation":[{"name":"Brain Bank for Aging Research (Department of Neuropathology), Tokyo Metropolitan Institute for Geriatrics and Gerontology , Tokyo 173-0015 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9709-5242","authenticated-orcid":false,"given":"Shigeo","family":"Murayama","sequence":"additional","affiliation":[{"name":"Brain Bank for Aging Research (Department of Neuropathology), Tokyo Metropolitan Institute for Geriatrics and Gerontology , Tokyo 173-0015 , Japan"},{"name":"Brain Bank for Neurodevelopmental, Neurological and Psychiatric Disorders, United Graduate School of Child Development, Osaka University , Osaka 565-0871 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4911-2690","authenticated-orcid":false,"given":"Naoki","family":"Atsuta","sequence":"additional","affiliation":[{"name":"Department of Neurology, Aichi Medical University School of Medicine , Nagakute, Aichi 480-1195 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4854-3579","authenticated-orcid":false,"given":"Ryoichi","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Neurology, Aichi Medical University School of Medicine , Nagakute, Aichi 480-1195 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genki","family":"Tohnai","sequence":"additional","affiliation":[{"name":"Division of ALS Research, Aichi Medical University School of Medicine , Nagakute, Aichi 480-1195 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3048-9041","authenticated-orcid":false,"given":"Yuishin","family":"Izumi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tokushima University Graduate School of Biomedical Sciences , Tokushima 770-8503 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuya","family":"Morita","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Internal Medicine, Jichi Medical University , Shimotsuke, Tochigi 329-0498 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asako","family":"Tamura","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mie University Graduate School of Medicine , Tsu, Mie 514-8507 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Kano","sequence":"additional","affiliation":[{"name":"Department of Neurology, Toho University Faculty of Medicine , Ota-ku, Tokyo 143-8541 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaya","family":"Oda","sequence":"additional","affiliation":[{"name":"Department of Neurology, Vihara Hananosato Hospital , Miyoshi, Hiroshima 728-0001 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4716-8578","authenticated-orcid":false,"given":"Satoshi","family":"Kuwabara","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, Chiba University , Chuo-ku, Chiba 260-8670 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3634-5679","authenticated-orcid":false,"given":"Toru","family":"Yamashita","sequence":"additional","affiliation":[{"name":"Department of Neurology, Okayama University Graduate School of Medicine , Kita-ku, Okayama 700-8558 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9057-7609","authenticated-orcid":false,"given":"Jun","family":"Sone","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University , Nagakute, Aichi 480-1195 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryuji","family":"Kaji","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuroscience, Tokushima University , Tokushima 770-8503 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Sobue","sequence":"additional","affiliation":[{"name":"Aichi Medical University , Nagakute, Aichi 480-1195 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2924-5231","authenticated-orcid":false,"given":"Yuzuru","family":"Imai","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"},{"name":"Department of Research for Parkinson's Disease, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobutaka","family":"Hattori","sequence":"additional","affiliation":[{"name":"Department of Neurology, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"},{"name":"Department of Research for Parkinson's Disease, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"},{"name":"Department of Drug Development for Parkinson's Disease, Juntendo University Graduate School of Medicine , Bunkyo-ku, Tokyo 113-8421 , Japan"},{"name":"Neurodegenerative Disorders Collaborative Laboratory, RIKEN Center for Brain Science , Wako, Saitama 351-0198 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,7,30]]},"reference":[{"issue":"3","key":"2024081010153711600_pgae319-B1","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/S1474-4422(14)70266-2","article-title":"CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study","volume":"14","author":"Funayama","year":"2015","journal-title":"Lancet Neurol."},{"key":"2024081010153711600_pgae319-B2","doi-asserted-by":"crossref","first-page":"996061","DOI":"10.3389\/fcell.2022.996061","article-title":"Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10-what distinguishes the two?","volume":"10","author":"Ikeda","year":"2022","journal-title":"Front Cell Dev Biol"},{"issue":"Pt 8","key":"2024081010153711600_pgae319-B3","doi-asserted-by":"crossref","first-page":"2329","DOI":"10.1093\/brain\/awu138","article-title":"A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement","volume":"137","author":"Bannwarth","year":"2014","journal-title":"Brain"},{"issue":"22","key":"2024081010153711600_pgae319-B4","first-page":"3881","article-title":"CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10","volume":"27","author":"Huang","year":"2018","journal-title":"Hum Mol Genet."},{"issue":"3","key":"2024081010153711600_pgae319-B5","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1016\/j.jmb.2006.10.038","article-title":"Novel mitochondrial intermembrane space proteins as substrates of the MIA import pathway","volume":"365","author":"Gabriel","year":"2007","journal-title":"J Mol Biol."},{"issue":"6","key":"2024081010153711600_pgae319-B6","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1091\/mbc.e09-08-0673","article-title":"Mitochondrial dysfunction confers resistance to multiple drugs in Caenorhabditis elegans","volume":"21","author":"Zubovych","year":"2010","journal-title":"Mol Biol Cell."},{"key":"2024081010153711600_pgae319-B7","doi-asserted-by":"crossref","first-page":"15500","DOI":"10.1038\/ncomms15500","article-title":"Loss of Parkinson's disease-associated protein CHCHD2 affects mitochondrial crista structure and destabilizes cytochrome c","volume":"8","author":"Meng","year":"2017","journal-title":"Nat Commun"},{"issue":"4","key":"2024081010153711600_pgae319-B8","doi-asserted-by":"crossref","first-page":"908","DOI":"10.3390\/ijms20040908","article-title":"Twin CHCH proteins, CHCHD2, and CHCHD10: key molecules of Parkinson's disease, amyotrophic lateral sclerosis, and frontotemporal dementia","volume":"20","author":"Imai","year":"2019","journal-title":"Int J Mol Sci"},{"issue":"23","key":"2024081010153711600_pgae319-B9","doi-asserted-by":"crossref","first-page":"3895","DOI":"10.1093\/hmg\/ddz241","article-title":"Mutations in CHCHD2 cause alpha-synuclein aggregation","volume":"28","author":"Ikeda","year":"2019","journal-title":"Hum Mol Genet."},{"issue":"23","key":"2024081010153711600_pgae319-B10","doi-asserted-by":"crossref","first-page":"3987","DOI":"10.1093\/hmg\/ddac083","article-title":"Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation","volume":"31","author":"Kee","year":"2022","journal-title":"Hum Mol Genet."},{"issue":"9","key":"2024081010153711600_pgae319-B11","doi-asserted-by":"crossref","first-page":"e17451","DOI":"10.15252\/emmm.202317451","article-title":"Involvement of casein kinase 1 epsilon\/delta (Csnk1e\/d) in the pathogenesis of familial Parkinson's disease caused by CHCHD2","volume":"15","author":"Torii","year":"2023","journal-title":"EMBO Mol Med."},{"issue":"7","key":"2024081010153711600_pgae319-B12","doi-asserted-by":"crossref","first-page":"1774","DOI":"10.1093\/emboj\/20.7.1774","article-title":"Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping","volume":"20","author":"Buratti","year":"2001","journal-title":"EMBO J."},{"issue":"1","key":"2024081010153711600_pgae319-B13","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/nrn3121","article-title":"Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration","volume":"13","author":"Lee","year":"2011","journal-title":"Nat Rev Neurosci"},{"issue":"9","key":"2024081010153711600_pgae319-B14","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1016\/j.neuron.2023.02.028","article-title":"Lost in local translation: TDP-43 and FUS in axonal\/neuromuscular junction maintenance and dysregulation in amyotrophic lateral sclerosis","volume":"111","author":"Piol","year":"2023","journal-title":"Neuron"},{"issue":"4","key":"2024081010153711600_pgae319-B15","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/s41583-021-00431-1","article-title":"Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation","volume":"22","author":"Tziortzouda","year":"2021","journal-title":"Nat Rev Neurosci"},{"issue":"10","key":"2024081010153711600_pgae319-B16","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1038\/s41419-020-03116-2","article-title":"Aggresome formation and liquid-liquid phase separation independently induce cytoplasmic aggregation of TAR DNA-binding protein 43","volume":"11","author":"Watanabe","year":"2020","journal-title":"Cell Death Dis"},{"key":"2024081010153711600_pgae319-B17","doi-asserted-by":"crossref","first-page":"826719","DOI":"10.3389\/fmolb.2022.826719","article-title":"Liquid-liquid phase separation of TDP-43 and FUS in physiology and pathology of neurodegenerative diseases","volume":"9","author":"Carey","year":"2022","journal-title":"Front Mol Biosci"},{"key":"2024081010153711600_pgae319-B18","doi-asserted-by":"crossref","first-page":"664151","DOI":"10.3389\/fncel.2021.664151","article-title":"Altered phase separation and cellular impact in C9orf72-linked ALS\/FTD","volume":"15","author":"Solomon","year":"2021","journal-title":"Front Cell Neurosci."},{"issue":"7","key":"2024081010153711600_pgae319-B19","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.tcb.2016.03.004","article-title":"Phase separation: linking cellular compartmentalization to disease","volume":"26","author":"Aguzzi","year":"2016","journal-title":"Trends Cell Biol."},{"issue":"1","key":"2024081010153711600_pgae319-B20","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.cell.2015.09.015","article-title":"Phase separation by low complexity domains promotes stress granule assembly and drives pathological fibrillization","volume":"163","author":"Molliex","year":"2015","journal-title":"Cell"},{"issue":"2","key":"2024081010153711600_pgae319-B21","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.neuron.2019.02.038","article-title":"Cytoplasmic TDP-43 de-mixing independent of stress granules drives inhibition of nuclear import, loss of nuclear TDP-43, and cell death","volume":"102","author":"Gasset-Rosa","year":"2019","journal-title":"Neuron"},{"issue":"2","key":"2024081010153711600_pgae319-B22","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s00401-008-0480-1","article-title":"Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies","volume":"117","author":"Arai","year":"2009","journal-title":"Acta Neuropathol"},{"issue":"4","key":"2024081010153711600_pgae319-B23","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1111\/bpa.12424","article-title":"TDP-43 pathology in Alzheimer's disease, dementia with Lewy bodies and ageing","volume":"27","author":"McAleese","year":"2017","journal-title":"Brain Pathol"},{"issue":"11","key":"2024081010153711600_pgae319-B24","doi-asserted-by":"crossref","first-page":"2983","DOI":"10.1093\/brain\/aww224","article-title":"TDP-43 stage, mixed pathologies, and clinical Alzheimer's-type dementia","volume":"139","author":"James","year":"2016","journal-title":"Brain"},{"issue":"5","key":"2024081010153711600_pgae319-B25","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/ana.21154","article-title":"TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease","volume":"61","author":"Amador-Ortiz","year":"2007","journal-title":"Ann Neurol."},{"issue":"3","key":"2024081010153711600_pgae319-B26","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s00401-007-0261-2","article-title":"Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases","volume":"114","author":"Nakashima-Yasuda","year":"2007","journal-title":"Acta Neuropathol"},{"issue":"7","key":"2024081010153711600_pgae319-B27","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1002\/mds.29048","article-title":"TDP-43 proteinopathy presenting with typical symptoms of Parkinson's disease","volume":"37","author":"Yamashita","year":"2022","journal-title":"Mov Disord"},{"issue":"8","key":"2024081010153711600_pgae319-B28","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1002\/mds.29449","article-title":"Patterns of TDP-43 deposition in brains with LRRK2 G2019S mutations","volume":"38","author":"Agin-Liebes","year":"2023","journal-title":"Mov Disord"},{"issue":"4","key":"2024081010153711600_pgae319-B29","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.parkreldis.2008.07.005","article-title":"Pallidonigral TDP-43 pathology in Perry syndrome","volume":"15","author":"Wider","year":"2009","journal-title":"Parkinsonism Relat Disord"},{"issue":"8","key":"2024081010153711600_pgae319-B30","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1093\/jnen\/nlx049","article-title":"Perry syndrome: a distinctive type of TDP-43 proteinopathy","volume":"76","author":"Mishima","year":"2017","journal-title":"J Neuropathol Exp Neurol"},{"issue":"7","key":"2024081010153711600_pgae319-B31","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1093\/brain\/awad145","article-title":"Data-driven neuropathological staging and subtyping of TDP-43 proteinopathies","volume":"146","author":"Young","year":"2023","journal-title":"Brain"},{"issue":"2","key":"2024081010153711600_pgae319-B32","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1440-1789.2009.01091.x","article-title":"Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: a spectrum of TDP-43 proteinopathies","volume":"30","author":"Geser","year":"2010","journal-title":"Neuropathology"},{"issue":"5796","key":"2024081010153711600_pgae319-B33","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1126\/science.1134108","article-title":"Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis","volume":"314","author":"Neumann","year":"2006","journal-title":"Science"},{"issue":"2","key":"2024081010153711600_pgae319-B34","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s00401-008-0477-9","article-title":"Phosphorylation of S409\/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies","volume":"117","author":"Neumann","year":"2009","journal-title":"Acta Neuropathol"},{"issue":"1","key":"2024081010153711600_pgae319-B35","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1002\/ana.21425","article-title":"Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis","volume":"64","author":"Hasegawa","year":"2008","journal-title":"Ann Neurol."},{"issue":"3","key":"2024081010153711600_pgae319-B36","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.bbrc.2006.10.093","article-title":"TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis","volume":"351","author":"Arai","year":"2006","journal-title":"Biochem Biophys Res Commun."},{"issue":"2","key":"2024081010153711600_pgae319-B37","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/s41594-020-00537-7","article-title":"TDP-43 aggregation induced by oxidative stress causes global mitochondrial imbalance in ALS","volume":"28","author":"Zuo","year":"2021","journal-title":"Nat Struct Mol Biol"},{"issue":"2","key":"2024081010153711600_pgae319-B38","doi-asserted-by":"crossref","first-page":"e336","DOI":"10.1002\/ctm2.336","article-title":"Improving mitochondria and ER stability helps eliminate upper motor neuron degeneration that occurs due to mSOD1 toxicity and TDP-43 pathology","volume":"11","author":"Genc","year":"2021","journal-title":"Clin Transl Med"},{"issue":"8","key":"2024081010153711600_pgae319-B39","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1038\/nm.4130","article-title":"The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity","volume":"22","author":"Wang","year":"2016","journal-title":"Nat Med"},{"issue":"5","key":"2024081010153711600_pgae319-B40","doi-asserted-by":"crossref","first-page":"e1007947","DOI":"10.1371\/journal.pgen.1007947","article-title":"TDP-43 induces mitochondrial damage and activates the mitochondrial unfolded protein response","volume":"15","author":"Wang","year":"2019","journal-title":"PLoS Genet."},{"key":"2024081010153711600_pgae319-B41","doi-asserted-by":"crossref","first-page":"219.e1","DOI":"10.1016\/j.neurobiolaging.2015.11.030","article-title":"Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort","volume":"39","author":"Nakamura","year":"2016","journal-title":"Neurobiol Aging."},{"key":"2024081010153711600_pgae319-B42","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.mcn.2012.06.001","article-title":"Mitochondria and ALS: implications from novel genes and pathways","volume":"55","author":"Cozzolino","year":"2013","journal-title":"Mol Cell Neurosci"},{"key":"2024081010153711600_pgae319-B43","doi-asserted-by":"crossref","first-page":"132933","DOI":"10.1016\/j.neulet.2017.06.052","article-title":"The role of mitochondria in amyotrophic lateral sclerosis","volume":"710","author":"Smith","year":"2019","journal-title":"Neurosci Lett"},{"key":"2024081010153711600_pgae319-B44","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.nbd.2014.07.009","article-title":"Aggregate formation prevents dTDP-43 neurotoxicity in the Drosophila melanogaster eye","volume":"71","author":"Cragnaz","year":"2014","journal-title":"Neurobiol Dis"},{"issue":"1","key":"2024081010153711600_pgae319-B45","first-page":"184","article-title":"Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model","volume":"6","author":"Llamusi","year":"2013","journal-title":"Dis Model Mech"},{"issue":"6","key":"2024081010153711600_pgae319-B46","doi-asserted-by":"crossref","first-page":"e20371","DOI":"10.1371\/journal.pone.0020371","article-title":"Neuronal function and dysfunction of Drosophila dTDP","volume":"6","author":"Lin","year":"2011","journal-title":"PLoS One"},{"key":"2024081010153711600_pgae319-B47","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1038\/s42003-019-0674-1","article-title":"Light-driven activation of mitochondrial proton-motive force improves motor behaviors in a Drosophila model of Parkinson's disease","volume":"2","author":"Imai","year":"2019","journal-title":"Commun Biol"},{"issue":"1","key":"2024081010153711600_pgae319-B48","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1093\/hmg\/ddx393","article-title":"Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS","volume":"27","author":"Straub","year":"2018","journal-title":"Hum Mol Genet."},{"issue":"Pt 1","key":"2024081010153711600_pgae319-B49","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.tiv.2017.07.030","article-title":"Comparison of different in vitro cell models for the assessment of pesticide-induced dopaminergic neurotoxicity","volume":"45","author":"Heusinkveld","year":"2017","journal-title":"Toxicol In Vitro"},{"issue":"1","key":"2024081010153711600_pgae319-B50","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.ceca.2014.11.001","article-title":"Molecular diversity and pleiotropic role of the mitochondrial calcium uniporter","volume":"58","author":"Murgia","year":"2015","journal-title":"Cell Calcium"},{"issue":"4","key":"2024081010153711600_pgae319-B51","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.bbamcr.2014.01.010","article-title":"Reduced cellular Ca(2+) availability enhances TDP-43 cleavage by apoptotic caspases","volume":"1843","author":"De Marco","year":"2014","journal-title":"Biochim Biophys Acta."},{"key":"2024081010153711600_pgae319-B52","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1038\/ncomms2303","article-title":"A role for calpain-dependent cleavage of TDP-43 in amyotrophic lateral sclerosis pathology","volume":"3","author":"Yamashita","year":"2012","journal-title":"Nat Commun"},{"issue":"9","key":"2024081010153711600_pgae319-B53","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1038\/jcbfm.2014.105","article-title":"Dual vulnerability of TDP-43 to calpain and caspase-3 proteolysis after neurotoxic conditions and traumatic brain injury","volume":"34","author":"Yang","year":"2014","journal-title":"J Cereb Blood Flow Metab"},{"issue":"18","key":"2024081010153711600_pgae319-B54","doi-asserted-by":"crossref","first-page":"3353","DOI":"10.1093\/hmg\/ddp275","article-title":"Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43","volume":"18","author":"Nonaka","year":"2009","journal-title":"Hum Mol Genet."},{"issue":"12","key":"2024081010153711600_pgae319-B55","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1016\/j.bbadis.2011.09.005","article-title":"Molecular properties of TAR DNA binding protein-43 fragments are dependent upon its cleavage site","volume":"1812","author":"Furukawa","year":"2011","journal-title":"Biochim Biophys Acta."},{"issue":"23","key":"2024081010153711600_pgae319-B56","doi-asserted-by":"crossref","first-page":"2016","DOI":"10.1212\/WNL.0000000000002170","article-title":"Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders","volume":"85","author":"Ogaki","year":"2015","journal-title":"Neurology"},{"issue":"6664","key":"2024081010153711600_pgae319-B57","doi-asserted-by":"crossref","first-page":"eadg7492","DOI":"10.1126\/science.adg7492","article-title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","volume":"381","author":"Cheng","year":"2023","journal-title":"Science"},{"issue":"4","key":"2024081010153711600_pgae319-B58","doi-asserted-by":"crossref","first-page":"2255","DOI":"10.1093\/nar\/gks1454","article-title":"Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2","volume":"41","author":"Aras","year":"2013","journal-title":"Nucleic Acids Res."},{"issue":"1","key":"2024081010153711600_pgae319-B59","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1007\/s00401-024-02734-w","article-title":"Aberrant CHCHD2-associated mitochondriopathy in Kii ALS\/PDC astrocytes","volume":"147","author":"Leventoux","year":"2024","journal-title":"Acta Neuropathol"},{"issue":"7799","key":"2024081010153711600_pgae319-B60","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/s41586-020-2076-4","article-title":"A pathway coordinated by DELE1 relays mitochondrial stress to the cytosol","volume":"579","author":"Fessler","year":"2020","journal-title":"Nature"},{"issue":"7799","key":"2024081010153711600_pgae319-B61","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1038\/s41586-020-2078-2","article-title":"Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway","volume":"579","author":"Guo","year":"2020","journal-title":"Nature"},{"issue":"10","key":"2024081010153711600_pgae319-B62","doi-asserted-by":"crossref","first-page":"110475","DOI":"10.1016\/j.celrep.2022.110475","article-title":"Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy","volume":"38","author":"Sayles","year":"2022","journal-title":"Cell Rep."},{"key":"2024081010153711600_pgae319-B63","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.brainres.2013.12.011","article-title":"The molecular link between inefficient GluA2 Q\/R site-RNA editing and TDP-43 pathology in motor neurons of sporadic amyotrophic lateral sclerosis patients","volume":"1584","author":"Yamashita","year":"2014","journal-title":"Brain Res."},{"issue":"1","key":"2024081010153711600_pgae319-B64","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/ana.23937","article-title":"Stages of pTDP-43 pathology in amyotrophic lateral sclerosis","volume":"74","author":"Brettschneider","year":"2013","journal-title":"Ann Neurol."},{"issue":"7","key":"2024081010153711600_pgae319-B65","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1534\/g3.112.002998","article-title":"Comparison of parallel high-throughput RNA sequencing between knockout of TDP-43 and its overexpression reveals primarily nonreciprocal and nonoverlapping gene expression changes in the central nervous system of Drosophila","volume":"2","author":"Hazelett","year":"2012","journal-title":"G3 (Bethesda)"},{"issue":"10","key":"2024081010153711600_pgae319-B66","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1016\/j.febslet.2009.04.019","article-title":"Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior","volume":"583","author":"Feiguin","year":"2009","journal-title":"FEBS Lett."},{"issue":"7097","key":"2024081010153711600_pgae319-B67","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1038\/nature04788","article-title":"Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin","volume":"441","author":"Park","year":"2006","journal-title":"Nature"},{"issue":"7412","key":"2024081010153711600_pgae319-B68","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1038\/nature11304","article-title":"A subset of dopamine neurons signals reward for odour memory in Drosophila","volume":"488","author":"Liu","year":"2012","journal-title":"Nature"}],"container-title":["PNAS Nexus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pnasnexus\/advance-article-pdf\/doi\/10.1093\/pnasnexus\/pgae319\/58688811\/pgae319.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pnasnexus\/article-pdf\/3\/8\/pgae319\/58792260\/pgae319.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pnasnexus\/article-pdf\/3\/8\/pgae319\/58792260\/pgae319.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T13:54:23Z","timestamp":1723298063000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pnasnexus\/article\/doi\/10.1093\/pnasnexus\/pgae319\/7723884"}},"subtitle":[],"editor":[{"given":"Nancy","family":"Bonini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2024,7,30]]},"references-count":68,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8,5]]}},"URL":"https:\/\/doi.org\/10.1093\/pnasnexus\/pgae319","relation":{},"ISSN":["2752-6542"],"issn-type":[{"value":"2752-6542","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,8]]},"published":{"date-parts":[[2024,7,30]]},"article-number":"pgae319"}}