{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:30:51Z","timestamp":1791246651999,"version":"4.1.0"},"reference-count":55,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,4]],"date-time":"2025-01-04T00:00:00Z","timestamp":1735948800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,1,4]],"date-time":"2025-01-04T00:00:00Z","timestamp":1735948800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"the Chinese Academy of Medical Sciences (CAMS) Innovation Fund for Medical Sciences","award":["2021-I2M-1-034"],"award-info":[{"award-number":["2021-I2M-1-034"]}]},{"name":"the Chinese Academy of Medical Sciences (CAMS) Innovation Fund for Medical Sciences","award":["2021-I2M-1-034"],"award-info":[{"award-number":["2021-I2M-1-034"]}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program","doi-asserted-by":"crossref","award":["2022YFC2703904"],"award-info":[{"award-number":["2022YFC2703904"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program","doi-asserted-by":"crossref","award":["2022YFC2703900"],"award-info":[{"award-number":["2022YFC2703900"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National High Level Hospital Clinical Research Funding","award":["2022-PUMCH-B-017"],"award-info":[{"award-number":["2022-PUMCH-B-017"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81971293"],"award-info":[{"award-number":["81971293"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82201562"],"award-info":[{"award-number":["82201562"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Strategic Priority Research Program (Pilot study) \u201cBiological basis of aging and therapeutic strategies\u201d of the Chinese Academy of Sciences","award":["XDB39040000"],"award-info":[{"award-number":["XDB39040000"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["acta neuropathol commun"],"DOI":"10.1186\/s40478-024-01919-4","type":"journal-article","created":{"date-parts":[[2025,1,4]],"date-time":"2025-01-04T02:38:44Z","timestamp":1735958324000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment"],"prefix":"10.1186","volume":"13","author":[{"given":"Qing","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baodong","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haodong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaojie","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ximeng","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinzhe","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongchao","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liying","family":"Cui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,4]]},"reference":[{"key":"1919_CR1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aax3993","author":"M Nahm","year":"2020","unstructured":"Nahm M, Lim SM, Kim YE, Park J, Noh MY, Lee S et al (2020) ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics. Sci Transl Med. https:\/\/doi.org\/10.1126\/scitranslmed.aax3993","journal-title":"Sci Transl Med"},{"issue":"2","key":"1919_CR2","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1002\/ana.26136","volume":"90","author":"TB Leoni","year":"2021","unstructured":"Leoni TB, Gonzalez-Salazar C, Rezende TJR, Hernandez ALC, Mattos AHB, Coimbra Neto AR et al (2021) A novel multisystem proteinopathy caused by a missense ANXA11 variant. Ann Neurol 90(2):239\u2013252. https:\/\/doi.org\/10.1002\/ana.26136","journal-title":"Ann Neurol"},{"key":"1919_CR3","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcac299","author":"W Sung","year":"2022","unstructured":"Sung W, Nahm M, Lim SM, Noh MY, Lee S, Hwang SM et al (2022) Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants. Brain Commun. https:\/\/doi.org\/10.1093\/braincomms\/fcac299","journal-title":"Brain Commun."},{"key":"1919_CR4","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.886887","volume":"13","author":"Y Wang","year":"2022","unstructured":"Wang Y, Duan X, Zhou X, Wang R, Zhang X, Cao Z et al (2022) ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia. Front Neurol 13:886887. https:\/\/doi.org\/10.3389\/fneur.2022.886887","journal-title":"Front Neurol"},{"key":"1919_CR5","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000237","author":"K Zhang","year":"2018","unstructured":"Zhang K, Liu Q, Liu K, Shen D, Tai H, Shu S et al (2018) ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia. Neurol Genet. https:\/\/doi.org\/10.1212\/NXG.0000000000000237","journal-title":"Neurol Genet."},{"key":"1919_CR6","doi-asserted-by":"publisher","first-page":"1086264","DOI":"10.3389\/fneur.2023.1086264","volume":"14","author":"X Zhang","year":"2023","unstructured":"Zhang X, Gao J, Chi C, Zhao Z, Chan P, Ma J (2023) An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: a case report and literature review. Front Neurol 14:1086264","journal-title":"Front Neurol"},{"key":"1919_CR7","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2022.105907","volume":"175","author":"Q Jiang","year":"2022","unstructured":"Jiang Q, Lin J, Wei Q, Li C, Hou Y, Cao B et al (2022) Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis. Neurobiol Dis 175:105907. https:\/\/doi.org\/10.1016\/j.nbd.2022.105907","journal-title":"Neurobiol Dis"},{"issue":"2","key":"1919_CR8","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1016\/j.cell.2014.09.014","volume":"159","author":"RJ Platt","year":"2014","unstructured":"Platt RJ, Chen S, Zhou Y, Yim MJ, Swiech L, Kempton HR et al (2014) CRISPR-Cas9 knockin mice for genome editing and cancer modeling. Cell 159(2):440\u2013455. https:\/\/doi.org\/10.1016\/j.cell.2014.09.014","journal-title":"Cell"},{"issue":"5","key":"1919_CR9","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/nrg3899","volume":"16","author":"O Shalem","year":"2015","unstructured":"Shalem O, Sanjana NE, Zhang F (2015) High-throughput functional genomics using CRISPR-Cas9. Nat Rev Genet 16(5):299\u2013311. https:\/\/doi.org\/10.1038\/nrg3899","journal-title":"Nat Rev Genet"},{"issue":"6239","key":"1919_CR10","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1126\/science.aaa9344","volume":"348","author":"J Chew","year":"2015","unstructured":"Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M et al (2015) C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science 348(6239):1151\u20131154. https:\/\/doi.org\/10.1126\/science.aaa9344","journal-title":"Science"},{"key":"1919_CR11","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1016\/j.neubiorev.2021.05.005","volume":"127","author":"NS Pentkowski","year":"2021","unstructured":"Pentkowski NS, Rogge-Obando KK, Donaldson TN, Bouquin SJ, Clark BJ (2021) Anxiety and Alzheimer\u2019s disease: Behavioral analysis and neural basis in rodent models of Alzheimer\u2019s-related neuropathology. Neurosci Biobehav Rev 127:647\u2013658. https:\/\/doi.org\/10.1016\/j.neubiorev.2021.05.005","journal-title":"Neurosci Biobehav Rev"},{"issue":"22","key":"1919_CR12","doi-asserted-by":"publisher","first-page":"6390","DOI":"10.1093\/hmg\/ddv350","volume":"24","author":"T Takagi","year":"2015","unstructured":"Takagi T, Nishizaki Y, Matsui F, Wakamatsu N, Higashi Y (2015) De novo inbred heterozygous Zeb2\/Sip1 mutant mice uniquely generated by germ-line conditional knockout exhibit craniofacial, callosal and behavioral defects associated with Mowat-Wilson syndrome. Hum Mol Genet 24(22):6390\u20136402. https:\/\/doi.org\/10.1093\/hmg\/ddv350","journal-title":"Hum Mol Genet"},{"issue":"5","key":"1919_CR13","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1016\/j.neubiorev.2004.06.006","volume":"28","author":"RN Hughes","year":"2004","unstructured":"Hughes RN (2004) The value of spontaneous alternation behavior (SAB) as a test of retention in pharmacological investigations of memory. Neurosci Biobehav Rev 28(5):497\u2013505. https:\/\/doi.org\/10.1016\/j.neubiorev.2004.06.006","journal-title":"Neurosci Biobehav Rev"},{"key":"1919_CR14","unstructured":"Dubowitz V, Sewry CA. Muscle biopsy: A practical approach. 3rd ed. Elsevier, Philadelphia."},{"issue":"10","key":"1919_CR15","doi-asserted-by":"publisher","first-page":"772","DOI":"10.3760\/cma.j.cn113694-20200317-00185","volume":"53","author":"HR Ma","year":"2020","unstructured":"Ma HR, Wang SB, Wang F, Gong M, Zhang QY, Song SN et al (2020) Frontotemporal dementia with ANXA11 gene mutation: a case report and literature review. Chin J Neurol 53(10):772\u2013776. https:\/\/doi.org\/10.3760\/cma.j.cn113694-20200317-00185","journal-title":"Chin J Neurol"},{"issue":"10","key":"1919_CR16","doi-asserted-by":"publisher","first-page":"1660","DOI":"10.1002\/acn3.51665","volume":"9","author":"M Johari","year":"2022","unstructured":"Johari M, Papadimas G, Papadopoulos C, Xirou S, Kanavaki A, Chrysanthou-Piterou M et al (2022) Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11. Ann Clin Transl Neurol 9(10):1660\u20131667. https:\/\/doi.org\/10.1002\/acn3.51665","journal-title":"Ann Clin Transl Neurol"},{"issue":"3","key":"1919_CR17","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1002\/acn3.51731","volume":"10","author":"D Natera-de Benito","year":"2023","unstructured":"Natera-de Benito D, Olival J, Garcia-Cabau C, Jou C, Roldan M, Codina A et al (2023) Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants. Ann Clin Transl Neurol 10(3):408\u2013425. https:\/\/doi.org\/10.1002\/acn3.51731","journal-title":"Ann Clin Transl Neurol"},{"issue":"1","key":"1919_CR18","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1007\/s00401-024-02753-7","volume":"147","author":"JL Robinson","year":"2024","unstructured":"Robinson JL, Suh E, Xu Y, Hurtig HI, Elman L, McMillan CT et al (2024) Annexin A11 aggregation in FTLD-TDP type C and related neurodegenerative disease proteinopathies. Acta Neuropathol 147(1):104. https:\/\/doi.org\/10.1007\/s00401-024-02753-7","journal-title":"Acta Neuropathol"},{"key":"1919_CR19","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/s11658-016-0031-z","volume":"21","author":"WJ Liu","year":"2016","unstructured":"Liu WJ, Ye L, Huang WF, Guo LJ, Xu ZG, Wu HL et al (2016) p62 links the autophagy pathway and the ubiquitin-proteasome system upon ubiquitinated protein degradation. Cell Mol Biol Lett 21:29. https:\/\/doi.org\/10.1186\/s11658-016-0031-z","journal-title":"Cell Mol Biol Lett"},{"issue":"3","key":"1919_CR20","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1038\/ncb2021","volume":"12","author":"M Komatsu","year":"2010","unstructured":"Komatsu M, Kurokawa H, Waguri S, Taguchi K, Kobayashi A, Ichimura Y et al (2010) The selective autophagy substrate p62 activates the stress responsive transcription factor Nrf2 through inactivation of Keap1. Nat Cell Biol 12(3):213\u2013223. https:\/\/doi.org\/10.1038\/ncb2021","journal-title":"Nat Cell Biol"},{"key":"1919_CR21","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.abb3774","author":"CN Cook","year":"2020","unstructured":"Cook CN, Wu Y, Odeh HM, Gendron TF, Jansen-West K, Del Rosso G et al (2020) C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy. Sci Transl Med. https:\/\/doi.org\/10.1126\/scitranslmed.abb3774","journal-title":"Sci Transl Med."},{"issue":"1","key":"1919_CR22","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1007\/s00401-011-0845-8","volume":"122","author":"IR Mackenzie","year":"2011","unstructured":"Mackenzie IR, Bigio EH, Ince PG, Geser F, Revesz T, Robinson JL et al (2011) A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol 122(1):111\u2013113. https:\/\/doi.org\/10.1007\/s00401-011-0845-8","journal-title":"Acta Neuropathol"},{"issue":"3","key":"1919_CR23","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1016\/j.neuron.2013.12.018","volume":"81","author":"NH Alami","year":"2014","unstructured":"Alami NH, Smith RB, Carrasco MA, Williams LA, Winborn CS, Han SS-W et al (2014) Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations. Neuron 81(3):536\u2013543","journal-title":"Neuron"},{"issue":"1","key":"1919_CR24","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1016\/j.cell.2019.08.050","volume":"179","author":"YC Liao","year":"2019","unstructured":"Liao YC, Fernandopulle MS, Wang G, Choi H, Hao L, Drerup CM et al (2019) RNA granules hitchhike on lysosomes for long-distance transport, using Annexin A11 as a molecular tether. Cell 179(1):147-164.e20. https:\/\/doi.org\/10.1016\/j.cell.2019.08.050","journal-title":"Cell"},{"issue":"1","key":"1919_CR25","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1186\/s40478-021-01202-w","volume":"9","author":"M Sainouchi","year":"2021","unstructured":"Sainouchi M, Hatano Y, Tada M, Ishihara T, Ando S, Kato T et al (2021) A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features. Acta Neuropathol Commun 9(1):106. https:\/\/doi.org\/10.1186\/s40478-021-01202-w","journal-title":"Acta Neuropathol Commun"},{"key":"1919_CR26","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2020.10.015","author":"E Teyssou","year":"2021","unstructured":"Teyssou E, Muratet F, Amador MD, Ferrien M, Lautrette G, Machat S et al (2021) Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis. Neurobiol Aging. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2020.10.015","journal-title":"Neurobiol Aging."},{"issue":"1","key":"1919_CR27","doi-asserted-by":"publisher","first-page":"3753","DOI":"10.1038\/s41467-020-17514-9","volume":"11","author":"KA Guttenplan","year":"2020","unstructured":"Guttenplan KA, Weigel MK, Adler DI, Couthouis J, Liddelow SA, Gitler AD et al (2020) Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model. Nat Commun 11(1):3753. https:\/\/doi.org\/10.1038\/s41467-020-17514-9","journal-title":"Nat Commun"},{"issue":"1","key":"1919_CR28","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1186\/s12974-021-02309-6","volume":"18","author":"SC Woodburn","year":"2021","unstructured":"Woodburn SC, Bollinger JL, Wohleb ES (2021) The semantics of microglia activation: neuroinflammation, homeostasis, and stress. J Neuroinflammation 18(1):258. https:\/\/doi.org\/10.1186\/s12974-021-02309-6","journal-title":"J Neuroinflammation"},{"issue":"6","key":"1919_CR29","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1042\/EBC20170027","volume":"61","author":"Y Rabanal-Ruiz","year":"2017","unstructured":"Rabanal-Ruiz Y, Otten EG, Korolchuk VI (2017) mTORC1 as the main gateway to autophagy. Essays Biochem 61(6):565\u2013584. https:\/\/doi.org\/10.1042\/EBC20170027","journal-title":"Essays Biochem"},{"issue":"Pt 8","key":"1919_CR30","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1242\/jcs.125773","volume":"126","author":"M Laplante","year":"2013","unstructured":"Laplante M, Sabatini DM (2013) Regulation of mTORC1 and its impact on gene expression at a glance. J Cell Sci 126(Pt 8):1713\u20131719. https:\/\/doi.org\/10.1242\/jcs.125773","journal-title":"J Cell Sci"},{"issue":"5166","key":"1919_CR31","doi-asserted-by":"publisher","first-page":"1772","DOI":"10.1126\/science.8209258","volume":"264","author":"ME Gurney","year":"1994","unstructured":"Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD et al (1994) Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase Mutation. Science 264(5166):1772\u20131775. https:\/\/doi.org\/10.1126\/science.8209258","journal-title":"Science"},{"key":"1919_CR32","doi-asserted-by":"publisher","first-page":"886887","DOI":"10.3389\/fneur.2022.886887","volume":"13","author":"Y Wang","year":"2022","unstructured":"Wang Y, Duan X, Zhou X, Wang R, Zhang X, Cao Z et al (2022) ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia. Front Neurol 13:886887","journal-title":"Front Neurol"},{"issue":"1","key":"1919_CR33","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1186\/s40478-019-0824-1","volume":"7","author":"F Mori","year":"2019","unstructured":"Mori F, Tada M, Kon T, Miki Y, Tanji K, Kurotaki H et al (2019) Phosphorylated TDP-43 aggregates in skeletal and cardiac muscle are a marker of myogenic degeneration in amyotrophic lateral sclerosis and various conditions. Acta Neuropathol Commun 7(1):165","journal-title":"Acta Neuropathol Commun"},{"issue":"1","key":"1919_CR34","doi-asserted-by":"publisher","first-page":"51","DOI":"10.3390\/muscles2010006","volume":"2","author":"R Aishwarya","year":"2023","unstructured":"Aishwarya R, Abdullah CS, Remex NS, Nitu S, Hartman B, King J et al (2023) Pathological Sequelae associated with skeletal muscle atrophy and histopathology in G93A*SOD1 mice. Muscles 2(1):51\u201374","journal-title":"Muscles"},{"issue":"9","key":"1919_CR35","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1016\/j.molmed.2016.07.005","volume":"22","author":"JH Weishaupt","year":"2016","unstructured":"Weishaupt JH, Hyman T, Dikic I (2016) Common molecular pathways in amyotrophic lateral sclerosis and frontotemporal dementia. Trends Mol Med 22(9):769\u2013783. https:\/\/doi.org\/10.1016\/j.molmed.2016.07.005","journal-title":"Trends Mol Med"},{"issue":"11","key":"1919_CR36","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1038\/s41583-019-0222-5","volume":"20","author":"B Wolozin","year":"2019","unstructured":"Wolozin B, Ivanov P (2019) Stress granules and neurodegeneration. Nat Rev Neurosci 20(11):649\u2013666. https:\/\/doi.org\/10.1038\/s41583-019-0222-5","journal-title":"Nat Rev Neurosci"},{"issue":"1","key":"1919_CR37","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.devcel.2020.09.014","volume":"55","author":"A Zbinden","year":"2020","unstructured":"Zbinden A, Perez-Berlanga M, De Rossi P, Polymenidou M (2020) Phase separation and neurodegenerative diseases: a disturbance in the force. Dev Cell 55(1):45\u201368. https:\/\/doi.org\/10.1016\/j.devcel.2020.09.014","journal-title":"Dev Cell"},{"issue":"6","key":"1919_CR38","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1016\/j.cell.2017.02.029","volume":"168","author":"S Kroschwald","year":"2017","unstructured":"Kroschwald S, Alberti S (2017) Gel or die: phase separation as a survival strategy. Cell 168(6):947\u2013948. https:\/\/doi.org\/10.1016\/j.cell.2017.02.029","journal-title":"Cell"},{"issue":"2","key":"1919_CR39","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/j.cell.2020.03.046","volume":"181","author":"P Yang","year":"2020","unstructured":"Yang P, Mathieu C, Kolaitis RM, Zhang P, Messing J, Yurtsever U et al (2020) G3BP1 is a tunable switch that triggers phase separation to assemble stress granules. Cell 181(2):325-345.e28. https:\/\/doi.org\/10.1016\/j.cell.2020.03.046","journal-title":"Cell"},{"issue":"4","key":"1919_CR40","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1016\/j.cell.2018.03.025","volume":"173","author":"K Zhang","year":"2018","unstructured":"Zhang K, Daigle JG, Cunningham KM, Coyne AN, Ruan K, Grima JC et al (2018) Stress granule assembly disrupts nucleocytoplasmic transport. Cell 173(4):958-971.e17. https:\/\/doi.org\/10.1016\/j.cell.2018.03.025","journal-title":"Cell"},{"issue":"3","key":"1919_CR41","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1083\/jcb.201302044","volume":"201","author":"YR Li","year":"2013","unstructured":"Li YR, King OD, Shorter J, Gitler AD (2013) Stress granules as crucibles of ALS pathogenesis. J Cell Biol 201(3):361\u2013372. https:\/\/doi.org\/10.1083\/jcb.201302044","journal-title":"J Cell Biol"},{"issue":"5","key":"1919_CR42","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1093\/brain\/awaa076","volume":"143","author":"X Zhang","year":"2020","unstructured":"Zhang X, Wang F, Hu Y, Chen R, Meng D, Guo L et al (2020) In vivo stress granule misprocessing evidenced in a FUS knock-in ALS mouse model. Brain 143(5):1350\u20131367. https:\/\/doi.org\/10.1093\/brain\/awaa076","journal-title":"Brain"},{"key":"1919_CR43","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2023.102085","volume":"92","author":"A Babazadeh","year":"2023","unstructured":"Babazadeh A, Rayner SL, Lee A, Chung RS (2023) TDP-43 as a therapeutic target in neurodegenerative diseases: Focusing on motor neuron disease and frontotemporal dementia. Ageing Res Rev 92:102085. https:\/\/doi.org\/10.1016\/j.arr.2023.102085","journal-title":"Ageing Res Rev"},{"issue":"5796","key":"1919_CR44","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1126\/science.1134108","volume":"314","author":"M Neumann","year":"2006","unstructured":"Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT et al (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314(5796):130\u2013133. https:\/\/doi.org\/10.1126\/science.1134108","journal-title":"Science"},{"issue":"7","key":"1919_CR45","doi-asserted-by":"publisher","first-page":"4223","DOI":"10.1007\/s12035-022-02847-x","volume":"59","author":"YZ Liao","year":"2022","unstructured":"Liao YZ, Ma J, Dou JZ (2022) The role of TDP-43 in neurodegenerative disease. Mol Neurobiol 59(7):4223\u20134241. https:\/\/doi.org\/10.1007\/s12035-022-02847-x","journal-title":"Mol Neurobiol"},{"issue":"5","key":"1919_CR46","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1007\/s00401-015-1486-0","volume":"130","author":"YD Ke","year":"2015","unstructured":"Ke YD, van Hummel A, Stevens CH, Gladbach A, Ippati S, Bi M et al (2015) Short-term suppression of A315T mutant human TDP-43 expression improves functional deficits in a novel inducible transgenic mouse model of FTLD-TDP and ALS. Acta Neuropathol 130(5):661\u2013678. https:\/\/doi.org\/10.1007\/s00401-015-1486-0","journal-title":"Acta Neuropathol"},{"issue":"5","key":"1919_CR47","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1007\/s00401-015-1460-x","volume":"130","author":"AK Walker","year":"2015","unstructured":"Walker AK, Spiller KJ, Ge G, Zheng A, Xu Y, Zhou M et al (2015) Functional recovery in new mouse models of ALS\/FTLD after clearance of pathological cytoplasmic TDP-43. Acta Neuropathol 130(5):643\u2013660. https:\/\/doi.org\/10.1007\/s00401-015-1460-x","journal-title":"Acta Neuropathol"},{"issue":"2","key":"1919_CR48","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1080\/15548627.2021.1926656","volume":"18","author":"JP Chua","year":"2022","unstructured":"Chua JP, De Calbiac H, Kabashi E, Barmada SJ (2022) Autophagy and ALS: mechanistic insights and therapeutic implications. Autophagy 18(2):254\u2013282. https:\/\/doi.org\/10.1080\/15548627.2021.1926656","journal-title":"Autophagy"},{"issue":"5","key":"1919_CR49","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1097\/NEN.0b013e3182160690","volume":"70","author":"S Sasaki","year":"2011","unstructured":"Sasaki S (2011) Autophagy in spinal cord motor neurons in sporadic amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 70(5):349\u2013359. https:\/\/doi.org\/10.1097\/NEN.0b013e3182160690","journal-title":"J Neuropathol Exp Neurol"},{"key":"1919_CR50","doi-asserted-by":"publisher","unstructured":"Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, et al (2016) Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy https:\/\/doi.org\/10.1080\/15548627.2015.1100356.","DOI":"10.1080\/15548627.2015.1100356"},{"issue":"2","key":"1919_CR51","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1111\/j.1471-4159.2010.07098.x","volume":"116","author":"OA Brady","year":"2011","unstructured":"Brady OA, Meng P, Zheng Y, Mao Y, Hu F (2011) Regulation of TDP-43 aggregation by phosphorylation and p62\/SQSTM1. J Neurochem. 116(2):248\u201359","journal-title":"J Neurochem."},{"issue":"8034","key":"1919_CR52","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1038\/s41586-024-08024-5","volume":"634","author":"D Arseni","year":"2024","unstructured":"Arseni D, Nonaka T, Jacobsen MH, Murzin AG, Cracco L, Peak-Chew SY et al (2024) Heteromeric amyloid filaments of ANXA11 and TDP-43 in FTLD-TDP type C. Nature 634(8034):662\u2013668","journal-title":"Nature"},{"issue":"1","key":"1919_CR53","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1186\/s13024-021-00428-5","volume":"16","author":"HW Querfurth","year":"2021","unstructured":"Querfurth HW, Lee HK (2021) Mammalian\/mechanistic target of rapamycin (mTOR) complexes in neurodegeneration. Mol Neurodegener 16(1):44. https:\/\/doi.org\/10.1186\/s13024-021-00428-5","journal-title":"Mol Neurodegener"},{"issue":"4","key":"1919_CR54","doi-asserted-by":"publisher","first-page":"412","DOI":"10.4161\/auto.7.4.14541","volume":"7","author":"X Zhang","year":"2011","unstructured":"Zhang X, Li L, Chen S, Yang D, Wang Y, Zhang X et al (2011) Rapamycin treatment augments motor neuron degeneration in SOD1(G93A) mouse model of amyotrophic lateral sclerosis. Autophagy 7(4):412\u2013425. https:\/\/doi.org\/10.4161\/auto.7.4.14541","journal-title":"Autophagy"},{"issue":"5","key":"1919_CR55","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1097\/WCO.0000000000000983","volume":"34","author":"SH Appel","year":"2021","unstructured":"Appel SH, Beers DR, Zhao W (2021) Amyotrophic lateral sclerosis is a systemic disease: peripheral contributions to inflammation-mediated neurodegeneration. Curr Opin Neurol 34(5):765\u2013772","journal-title":"Curr Opin Neurol"}],"container-title":["Acta Neuropathologica Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40478-024-01919-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40478-024-01919-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40478-024-01919-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,4]],"date-time":"2025-01-04T03:04:20Z","timestamp":1735959860000},"score":1,"resource":{"primary":{"URL":"https:\/\/actaneurocomms.biomedcentral.com\/articles\/10.1186\/s40478-024-01919-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,4]]},"references-count":55,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["1919"],"URL":"https:\/\/doi.org\/10.1186\/s40478-024-01919-4","relation":{},"ISSN":["2051-5960"],"issn-type":[{"value":"2051-5960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,4]]},"assertion":[{"value":"27 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study complies with the Institutional Animal Care and Use Committee (IACUC) guidelines at Peking Union Medical College Hospital, adhering to the Guide for the Care and Use of Laboratory Animals (Eighth Edition, NHR).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"2"}}