{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T19:35:35Z","timestamp":1791920135385,"version":"4.3.4"},"reference-count":188,"publisher":"Elsevier","isbn-type":[{"value":"9780128220214","type":"print"}],"license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002957","name":"Technische Universit\u00c3\u00a4t Dresden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002957","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005224","name":"Deutsches Zentrum f\u00c3\u00bcr Neurodegenerative Erkrankungen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005224","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007674","name":"Institute of Molecular and Cell Biology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007674","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["ERC-802182-Neurovulnerability"],"award-info":[{"award-number":["ERC-802182-Neurovulnerability"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020]]},"DOI":"10.1016\/bs.pmbts.2020.03.009","type":"book-chapter","created":{"date-parts":[[2020,4,24]],"date-time":"2020-04-24T12:06:18Z","timestamp":1587729978000},"page":"157-202","source":"Crossref","is-referenced-by-count":6,"title":["Autophagy in motor neuron diseases"],"prefix":"10.1016","member":"78","reference":[{"key":"10.1016\/bs.pmbts.2020.03.009_bb0010","doi-asserted-by":"crossref","first-page":"290","DOI":"10.4161\/auto.5524","article-title":"Altered macroautophagy in the spinal cord of SOD1 mutant mice","volume":"4","author":"Li","year":"2008","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0015","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.neuron.2015.06.026","article-title":"Endolysosomal deficits augment mitochondria pathology in spinal motor neurons of asymptomatic fALS mice","volume":"87","author":"Xie","year":"2015","journal-title":"Neuron"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0020","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":"10.1016\/bs.pmbts.2020.03.009_bb0025","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 ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0030","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1038\/s41582-018-0047-2","article-title":"C9orf72-mediated ALS and FTD: multiple pathways to disease","volume":"14","author":"Balendra","year":"2018","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0035","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/s00401-013-1149-y","article-title":"Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons","volume":"126","author":"Almeida","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0040","doi-asserted-by":"crossref","first-page":"3579","DOI":"10.1093\/hmg\/ddu068","article-title":"C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking","volume":"23","author":"Farg","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0045","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1093\/bioinformatics\/bts725","article-title":"The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs","volume":"29","author":"Levine","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0050","doi-asserted-by":"crossref","first-page":"283","DOI":"10.3389\/fgene.2012.00283","article-title":"Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease","volume":"3","author":"Zhang","year":"2012","journal-title":"Front Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0055","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.215210","article-title":"The interplay between exosomes and autophagy\u2014partners in crime","volume":"131","author":"Xu","year":"2018","journal-title":"J Cell Sci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0060","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.15252\/embj.201694401","article-title":"The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy","volume":"35","author":"Webster","year":"2016","journal-title":"Embo J."},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0065","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.1601167","article-title":"A C9ORF72\/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy","volume":"2","author":"Yang","year":"2016","journal-title":"Sci Adv"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0070","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.23063","article-title":"Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator","volume":"6","author":"Jung","year":"2017","journal-title":"Elife"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0075","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s40478-016-0324-5","article-title":"The ALS\/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway","volume":"4","author":"Sullivan","year":"2016","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0080","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.15252\/embj.201593350","article-title":"Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death","volume":"35","author":"Sellier","year":"2016","journal-title":"Embo J"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0085","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1101\/gad.313932.118","article-title":"The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis","volume":"32","author":"Zhang","year":"2018","journal-title":"Genes Dev"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0090","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature09204","article-title":"Network organization of the human autophagy system","volume":"466","author":"Behrends","year":"2010","journal-title":"Nature"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0095","doi-asserted-by":"crossref","first-page":"3040","DOI":"10.1091\/mbc.e16-01-0003","article-title":"C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling","volume":"27","author":"Amick","year":"2016","journal-title":"Mol Biol Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0100","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1080\/15548627.2019.1569914","article-title":"SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis","volume":"15","author":"Lan","year":"2019","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0105","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1126\/science.1204592","article-title":"TFEB links autophagy to lysosomal biogenesis","volume":"332","author":"Settembre","year":"2011","journal-title":"Science"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0110","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1038\/emboj.2012.32","article-title":"A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB","volume":"31","author":"Settembre","year":"2012","journal-title":"Embo J"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0115","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006443","article-title":"Loss of C9orf72 enhances autophagic activity via deregulated mTOR and TFEB signaling","volume":"12","author":"Ugolino","year":"2016","journal-title":"PLoS Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0120","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1101\/gad.315564.118","article-title":"A C9orf72-CARM1 axis regulates lipid metabolism under glucose starvation-induced nutrient stress","volume":"32","author":"Liu","year":"2018","journal-title":"Genes Dev"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0125","doi-asserted-by":"crossref","first-page":"1522","DOI":"10.1016\/j.cub.2018.03.063","article-title":"A C9orf72 ALS\/FTD ortholog acts in endolysosomal degradation and lysosomal homeostasis","volume":"28","author":"Corrionero","year":"2018","journal-title":"Curr Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0130","doi-asserted-by":"crossref","first-page":"442","DOI":"10.3389\/fnins.2017.00442","article-title":"The enigmatic role of C9ORF72 in autophagy","volume":"11","author":"Nassif","year":"2017","journal-title":"Front Neurosci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0135","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1093\/brain\/awz078","article-title":"The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?","volume":"142","author":"Hergesheimer","year":"2019","journal-title":"Brain"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0140","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1016\/S0140-6736(17)31287-4","article-title":"Amyotrophic lateral sclerosis","volume":"390","author":"van Es","year":"2017","journal-title":"Lancet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0145","doi-asserted-by":"crossref","first-page":"121","DOI":"10.15252\/embj.201591998","article-title":"TDP-43 loss of function increases TFEB activity and blocks autophagosome-lysosome fusion","volume":"35","author":"Xia","year":"2016","journal-title":"Embo J"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0150","doi-asserted-by":"crossref","first-page":"2092","DOI":"10.1038\/s41467-017-02017-x","article-title":"Endocytosis regulates TDP-43 toxicity and turnover","volume":"8","author":"Liu","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0155","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1093\/hmg\/ddy066","article-title":"TDP-43 controls lysosomal pathways thereby determining its own clearance and cytotoxicity","volume":"27","author":"Leibiger","year":"2018","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0160","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1038\/emboj.2010.143","article-title":"ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import","volume":"29","author":"Dormann","year":"2010","journal-title":"Embo J"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0165","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1002\/humu.22319","article-title":"TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update","volume":"34","author":"Lattante","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0170","doi-asserted-by":"crossref","first-page":"4748","DOI":"10.1093\/hmg\/ddt328","article-title":"Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis","volume":"22","author":"Sabatelli","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0175","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.40811","article-title":"Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis","volume":"8","author":"Ling","year":"2019","journal-title":"Elife"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0180","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s13041-017-0287-x","article-title":"TBK1: a new player in ALS linking autophagy and neuroinflammation","volume":"10","author":"Oakes","year":"2017","journal-title":"Mol Brain"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0185","doi-asserted-by":"crossref","first-page":"2457","DOI":"10.18632\/aging.101936","article-title":"Deletion of Tbk1 disrupts autophagy and reproduces behavioral and locomotor symptoms of FTD-ALS in mice","volume":"11","author":"Duan","year":"2019","journal-title":"Aging (Albany NY)"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0190","first-page":"1","article-title":"ALS-FTLD-linked mutations of SQSTM1\/p62 disrupt selective autophagy and NFE2L2\/NRF2 anti-oxidative stress pathway","author":"Deng","year":"2019","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0195","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1083\/jcb.200702115","article-title":"Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease","volume":"179","author":"Filimonenko","year":"2007","journal-title":"J Cell Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0200","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1186\/s40478-019-0758-7","article-title":"Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia","volume":"7","author":"Renaud","year":"2019","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0205","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/s41556-019-0281-x","article-title":"Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification","volume":"21","author":"Senturk","year":"2019","journal-title":"Nat Cell Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0210","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/nature08971","article-title":"Mutations of optineurin in amyotrophic lateral sclerosis","volume":"465","author":"Maruyama","year":"2010","journal-title":"Nature"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0215","doi-asserted-by":"crossref","first-page":"E4439","DOI":"10.1073\/pnas.1405752111","article-title":"Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation","volume":"111","author":"Wong","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0220","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.neuron.2010.11.036","article-title":"Exome sequencing reveals VCP mutations as a cause of familial ALS","volume":"68","author":"Johnson","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0225","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s40478-018-0627-9","article-title":"Mutant UBQLN2(P497H) in motor neurons leads to ALS-like phenotypes and defective autophagy in rats","volume":"6","author":"Chen","year":"2018","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0230","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.brainres.2007.06.045","article-title":"Increased autophagy in transgenic mice with a G93A mutant SOD1 gene","volume":"1167","author":"Morimoto","year":"2007","journal-title":"Brain Res"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0235","doi-asserted-by":"crossref","first-page":"3440","DOI":"10.1093\/hmg\/ddq257","article-title":"The small heat shock protein B8 (HspB8) promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis (ALS)","volume":"19","author":"Crippa","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0240","doi-asserted-by":"crossref","first-page":"412","DOI":"10.4161\/auto.7.4.14541","article-title":"Rapamycin treatment augments motor neuron degeneration in SOD1(G93A) mouse model of amyotrophic lateral sclerosis","volume":"7","author":"Zhang","year":"2011","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0245","doi-asserted-by":"crossref","first-page":"588","DOI":"10.4161\/auto.27710","article-title":"MTOR-independent, autophagic enhancer trehalose prolongs motor neuron survival and ameliorates the autophagic flux defect in a mouse model of amyotrophic lateral sclerosis","volume":"10","author":"Zhang","year":"2014","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0250","doi-asserted-by":"crossref","first-page":"2294","DOI":"10.1101\/gad.1830709","article-title":"XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy","volume":"23","author":"Hetz","year":"2009","journal-title":"Genes Dev"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0255","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.4161\/auto.25188","article-title":"Trehalose delays the progression of amyotrophic lateral sclerosis by enhancing autophagy in motoneurons","volume":"9","author":"Castillo","year":"2013","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0260","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1080\/15548627.2018.1535292","article-title":"Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration","volume":"15","author":"Rusmini","year":"2019","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0265","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.neuroscience.2015.03.061","article-title":"Trehalose decreases mutant SOD1 expression and alleviates motor deficiency in early but not end-stage amyotrophic lateral sclerosis in a SOD1-G93A mouse model","volume":"298","author":"Li","year":"2015","journal-title":"Neuroscience"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0270","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aaf3962","article-title":"The Src\/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis","volume":"9","author":"Imamura","year":"2017","journal-title":"Sci Transl Med"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0275","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s12640-018-9865-7","article-title":"Autophagic modulation by trehalose reduces accumulation of TDP-43 in a cell model of amyotrophic lateral sclerosis via TFEB activation","volume":"34","author":"Wang","year":"2018","journal-title":"Neurotox Res"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0280","first-page":"1","article-title":"Upregulation of ATG7 attenuates motor neuron dysfunction associated with depletion of TARDBP\/TDP-43","author":"Donde","year":"2019","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0285","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1016\/j.celrep.2019.01.019","article-title":"MAP4K4 activation mediates motor neuron degeneration in amyotrophic lateral sclerosis","volume":"26","author":"Wu","year":"2019","journal-title":"Cell Rep"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0290","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.neulet.2018.04.006","article-title":"Autophagy as a common pathway in amyotrophic lateral sclerosis","volume":"697","author":"Nguyen","year":"2019","journal-title":"Neurosci Lett"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0295","doi-asserted-by":"crossref","first-page":"E8294","DOI":"10.1073\/pnas.1704294114","article-title":"Distinct roles for motor neuron autophagy early and late in the SOD1(G93A) mouse model of ALS","volume":"114","author":"Rudnick","year":"2017","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0300","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/nn.4000","article-title":"Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia","volume":"18","author":"Freischmidt","year":"2015","journal-title":"Nat Neurosci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0305","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1126\/science.aaa3650","article-title":"Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways","volume":"347","author":"Cirulli","year":"2015","journal-title":"Science"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0310","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.nbd.2018.07.005","article-title":"Autophagy and mitophagy in ALS","volume":"122","author":"Evans","year":"2019","journal-title":"Neurobiol Dis"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0315","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1084\/jem.20180729","article-title":"Heterozygous Tbk1 loss has opposing effects in early and late stages of ALS in mice","volume":"216","author":"Brenner","year":"2019","journal-title":"J Exp Med"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0320","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1080\/15548627.2019.1589257","article-title":"Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1\/p62 accumulation","volume":"15","author":"Catanese","year":"2019","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0325","doi-asserted-by":"crossref","first-page":"15024","DOI":"10.1073\/pnas.1206362109","article-title":"Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43","volume":"109","author":"Wang","year":"2012","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0330","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/nchembio.1563","article-title":"Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models","volume":"10","author":"Barmada","year":"2014","journal-title":"Nat Chem Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0335","first-page":"1263","article-title":"Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species","volume":"127","author":"Scotter","year":"2014","journal-title":"J Cell Sci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0340","doi-asserted-by":"crossref","first-page":"6030","DOI":"10.1038\/s41598-018-24463-3","article-title":"Elimination of TDP-43 inclusions linked to amyotrophic lateral sclerosis by a misfolding-specific intrabody with dual proteolytic signals","volume":"8","author":"Tamaki","year":"2018","journal-title":"Sci Rep"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0345","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1016\/j.cell.2007.10.035","article-title":"Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice","volume":"131","author":"Komatsu","year":"2007","journal-title":"Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0350","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1001\/archneurol.2011.250","article-title":"SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis","volume":"68","author":"Fecto","year":"2011","journal-title":"Arch Neurol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0355","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s00401-013-1090-0","article-title":"Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology","volume":"125","author":"Teyssou","year":"2013","journal-title":"Acta Neuropathol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0360","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13041-018-0373-8","article-title":"Systemic overexpression of SQSTM1\/p62 accelerates disease onset in a SOD1(H46R)-expressing ALS mouse model","volume":"11","author":"Mitsui","year":"2018","journal-title":"Mol Brain"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0365","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.semcdb.2019.05.024","article-title":"Glia-specific autophagy dysfunction in ALS","volume":"99","author":"Strohm","year":"2019","journal-title":"Semin Cell Dev BiolSemin Cell Dev Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0370","doi-asserted-by":"crossref","first-page":"3877","DOI":"10.1007\/s00018-018-2849-1","article-title":"The role of survival motor neuron protein (SMN) in protein homeostasis","volume":"75","author":"Chaytow","year":"2018","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0375","doi-asserted-by":"crossref","first-page":"1766","DOI":"10.1093\/hmg\/ddq058","article-title":"Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy","volume":"19","author":"Wen","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0380","doi-asserted-by":"crossref","first-page":"3742","DOI":"10.1093\/hmg\/ddz188","article-title":"AAV9-Stathmin1 gene delivery improves disease phenotype in an intermediate mouse model of Spinal Muscular Atrophy","volume":"28","author":"Villalon","year":"2019","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0385","doi-asserted-by":"crossref","first-page":"6038","DOI":"10.1523\/JNEUROSCI.3716-14.2015","article-title":"Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy","volume":"35","author":"Miller","year":"2015","journal-title":"J Neurosci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0390","doi-asserted-by":"crossref","first-page":"E4377","DOI":"10.1073\/pnas.1600015113","article-title":"Decreased function of survival motor neuron protein impairs endocytic pathways","volume":"113","author":"Dimitriadi","year":"2016","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0395","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.ajhg.2016.07.014","article-title":"The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype","volume":"99","author":"Hosseinibarkooie","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0400","doi-asserted-by":"crossref","first-page":"2343","DOI":"10.1093\/brain\/awy167","article-title":"CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis","volume":"141","author":"Janzen","year":"2018","journal-title":"Brain"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0405","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1001\/jamaneurol.2015.0178","article-title":"Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy","volume":"72","author":"Ripolone","year":"2015","journal-title":"JAMA Neurol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0410","doi-asserted-by":"crossref","first-page":"3395","DOI":"10.1093\/hmg\/ddw262","article-title":"Motor neuron mitochondrial dysfunction in spinal muscular atrophy","volume":"25","author":"Miller","year":"2016","journal-title":"Hum Mol GenetHum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0415","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006744","article-title":"Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy","volume":"13","author":"Boyd","year":"2017","journal-title":"PLoS Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0420","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1016\/j.celrep.2017.10.010","article-title":"In vivo translatome profiling in spinal muscular atrophy reveals a role for SMN protein in ribosome biology","volume":"21","author":"Bernabo","year":"2017","journal-title":"Cell Rep"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0425","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.mcn.2014.06.006","article-title":"Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy","volume":"61","author":"Custer","year":"2014","journal-title":"Mol Cell Neurosci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0430","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.expneurol.2016.06.032","article-title":"Autophagy modulators regulate survival motor neuron protein stability in motoneurons","volume":"283","author":"Periyakaruppiah","year":"2016","journal-title":"Exp Neurol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0435","doi-asserted-by":"crossref","DOI":"10.1172\/JCI95231","article-title":"Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes","author":"Rodriguez-Muela","year":"2018","journal-title":"J Clin Invest"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0440","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s004390100473","article-title":"SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens","volume":"108","author":"Rochette","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0445","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/hmg\/8.7.1177","article-title":"A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2","volume":"8","author":"Monani","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0450","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0455","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-3-319-89689-2_2","article-title":"Mechanism of splicing regulation of spinal muscular atrophy genes","volume":"20","author":"Singh","year":"2018","journal-title":"Adv Neurobiol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0460","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.nbd.2011.02.003","article-title":"A new model to study spinal muscular atrophy: neurite degeneration and cell death is counteracted by BCL-X(L) Overexpression in motoneurons","volume":"42","author":"Garcera","year":"2011","journal-title":"Neurobiol Dis"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0465","doi-asserted-by":"crossref","first-page":"3223","DOI":"10.1038\/s41419-017-0086-4","article-title":"Inhibition of autophagy delays motoneuron degeneration and extends lifespan in a mouse model of spinal muscular atrophy","volume":"8","author":"Piras","year":"2017","journal-title":"Cell Death Dis"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0470","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/BF00174615","article-title":"Developmental cell death: morphological diversity and multiple mechanisms","volume":"181","author":"Clarke","year":"1990","journal-title":"Anat Embryol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0475","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.215152","article-title":"Autophagy-dependent cell death\u2014where, how and why a cell eats itself to death","volume":"131","author":"Bialik","year":"2018","journal-title":"J Cell Sci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0480","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1016\/j.cell.2007.10.048","article-title":"Growth arrest and autophagy are required for salivary gland cell degradation in Drosophila","volume":"131","author":"Berry","year":"2007","journal-title":"Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0485","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1016\/j.cub.2009.08.042","article-title":"Autophagy, not apoptosis, is essential for midgut cell death in Drosophila","volume":"19","author":"Denton","year":"2009","journal-title":"Curr Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0490","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1038\/cdd.2017.84","article-title":"Role of Atg5-dependent cell death in the embryonic development of Bax\/Bak double-knockout mice","volume":"24","author":"Arakawa","year":"2017","journal-title":"Cell Death Differ"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0495","doi-asserted-by":"crossref","first-page":"454","DOI":"10.2353\/ajpath.2008.070876","article-title":"Inhibition of autophagy prevents hippocampal pyramidal neuron death after hypoxic-ischemic injury","volume":"172","author":"Koike","year":"2008","journal-title":"Am J Pathol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0500","doi-asserted-by":"crossref","first-page":"63","DOI":"10.4161\/auto.8.1.18217","article-title":"Beclin 1 knockdown inhibits autophagic activation and prevents the secondary neurodegenerative damage in the ipsilateral thalamus following focal cerebral infarction","volume":"8","author":"Xing","year":"2012","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0505","doi-asserted-by":"crossref","first-page":"a018358","DOI":"10.1101\/cshperspect.a018358","article-title":"Endocytosis and autophagy: exploitation or cooperation?","volume":"6","author":"Tooze","year":"2014","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0510","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1016\/j.cell.2013.08.044","article-title":"Diverse autophagosome membrane sources coalesce in recycling endosomes","volume":"154","author":"Puri","year":"2013","journal-title":"Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0515","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1083\/jcb.200810098","article-title":"Early endosomes and endosomal coatomer are required for autophagy","volume":"185","author":"Razi","year":"2009","journal-title":"J Cell Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0520","doi-asserted-by":"crossref","first-page":"e47734","DOI":"10.15252\/embr.201947734","article-title":"Targeting of early endosomes by autophagy facilitates EGFR recycling and signalling","volume":"20","author":"Fraser","year":"2019","journal-title":"Embo Rep"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0525","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0530","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000773","article-title":"Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy","volume":"5","author":"Baumer","year":"2009","journal-title":"PLoS Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0535","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.tcb.2018.03.006","article-title":"Regulation and roles of autophagy at synapses","volume":"28","author":"Nikoletopoulou","year":"2018","journal-title":"Trends Cell Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0540","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.conb.2017.12.006","article-title":"Autophagy and proteostasis in the control of synapse aging and disease","volume":"48","author":"Liang","year":"2018","journal-title":"Curr Opin Neurobiol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0545","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.neulet.2018.05.033","article-title":"Autophagy at the synapse","volume":"697","author":"Birdsall","year":"2019","journal-title":"Neurosci Lett"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0550","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.200304128","article-title":"Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons","volume":"163","author":"Rossoll","year":"2003","journal-title":"J Cell Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0555","doi-asserted-by":"crossref","first-page":"3914","DOI":"10.1523\/JNEUROSCI.3631-10.2011","article-title":"The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons","volume":"31","author":"Fallini","year":"2011","journal-title":"J Neurosci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0560","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.211482","article-title":"Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology","volume":"131","author":"Thompson","year":"2018","journal-title":"J Cell Sci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0565","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0026164","article-title":"SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals","volume":"6","author":"Torres-Benito","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0570","doi-asserted-by":"crossref","first-page":"3159","DOI":"10.1093\/hmg\/ddq226","article-title":"PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons","volume":"19","author":"Ning","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0575","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.phrs.2016.05.023","article-title":"Loganin possesses neuroprotective properties, restores SMN protein and activates protein synthesis positive regulator Akt\/mTOR in experimental models of spinal muscular atrophy","volume":"111","author":"Tseng","year":"2016","journal-title":"Pharmacol Res"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0580","doi-asserted-by":"crossref","first-page":"6318","DOI":"10.1093\/hmg\/ddu350","article-title":"SMN regulates axonal local translation via miR-183\/mTOR pathway","volume":"23","author":"Kye","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0585","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.canlet.2014.09.039","article-title":"Interaction of autophagy with microRNAs and their potential therapeutic implications in human cancers","volume":"356","author":"Jing","year":"2015","journal-title":"Cancer Lett"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0590","doi-asserted-by":"crossref","first-page":"65","DOI":"10.3389\/fonc.2017.00065","article-title":"Autophagy-regulating microRNAs and cancer","volume":"7","author":"Gozuacik","year":"2017","journal-title":"Front Oncol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0595","doi-asserted-by":"crossref","first-page":"195","DOI":"10.3233\/BPL-180066","article-title":"Crosstalk between MicroRNAs and autophagy in adult neurogenesis: implications for neurodegenerative disorders","volume":"3","author":"Pircs","year":"2018","journal-title":"Brain Plast"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0600","doi-asserted-by":"crossref","first-page":"7907","DOI":"10.1038\/s41598-018-26347-y","article-title":"Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy","volume":"8","author":"Goncalves","year":"2018","journal-title":"Sci Rep"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0605","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1741-7015-7-14","article-title":"Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy","volume":"7","author":"Millino","year":"2009","journal-title":"BMC Med"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0610","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev-pathmechdis-012418-012857","article-title":"Polyglutamine repeats in neurodegenerative diseases","volume":"14","author":"Lieberman","year":"2019","journal-title":"Annu Rev Pathol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0615","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1111\/j.1468-1331.2009.02591.x","article-title":"Bulbar and spinal muscular atrophy (Kennedy's disease): a review","volume":"16","author":"Finsterer","year":"2009","journal-title":"Eur J Neurol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0620","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1093\/brain\/awh381","article-title":"Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients","volume":"128","author":"Adachi","year":"2005","journal-title":"Brain"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0625","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1093\/hmg\/ddp115","article-title":"Cytoplasmic retention of polyglutamine-expanded androgen receptor ameliorates disease via autophagy in a mouse model of spinal and bulbar muscular atrophy","volume":"18","author":"Montie","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0630","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1093\/hmg\/ddu419","article-title":"Synergic prodegradative activity of Bicalutamide and trehalose on the mutant androgen receptor responsible for spinal and bulbar muscular atrophy","volume":"24","author":"Giorgetti","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0635","doi-asserted-by":"crossref","first-page":"7710","DOI":"10.1523\/JNEUROSCI.3021-12.2013","article-title":"p62\/SQSTM1 differentially removes the toxic mutant androgen receptor via autophagy and inclusion formation in a spinal and bulbar muscular atrophy mouse model","volume":"33","author":"Doi","year":"2013","journal-title":"J Neurosci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0640","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1074\/jbc.274.2.781","article-title":"An evolutionarily conserved family of Hsp70\/Hsc70 molecular chaperone regulators","volume":"274","author":"Takayama","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0645","doi-asserted-by":"crossref","first-page":"E237","DOI":"10.1038\/ncb1001-e237","article-title":"Molecular chaperone targeting and regulation by BAG family proteins","volume":"3","author":"Takayama","year":"2001","journal-title":"Nat Cell Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0650","doi-asserted-by":"crossref","first-page":"6183","DOI":"10.1038\/sj.onc.1203043","article-title":"Bis, a Bcl-2-binding protein that synergizes with Bcl-2 in preventing cell death","volume":"18","author":"Lee","year":"1999","journal-title":"Oncogene"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0655","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/emboj.2009.29","article-title":"Protein quality control during aging involves recruitment of the macroautophagy pathway by BAG3","volume":"28","author":"Gamerdinger","year":"2009","journal-title":"Embo J"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0660","doi-asserted-by":"crossref","first-page":"177","DOI":"10.3389\/fnmol.2017.00177","article-title":"The role of the multifunctional BAG3 protein in cellular protein quality control and in disease","volume":"10","author":"Sturner","year":"2017","journal-title":"Front Mol Neurosci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0665","doi-asserted-by":"crossref","first-page":"15174","DOI":"10.1038\/srep15174","article-title":"Aberrant autophagic response in the muscle of a knock-in mouse model of spinal and bulbar muscular atrophy","volume":"5","author":"Rusmini","year":"2015","journal-title":"Sci Rep"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0670","doi-asserted-by":"crossref","first-page":"958","DOI":"10.4161\/auto.6.7.13042","article-title":"A role of small heat shock protein B8 (HspB8) in the autophagic removal of misfolded proteins responsible for neurodegenerative diseases","volume":"6","author":"Crippa","year":"2010","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0675","doi-asserted-by":"crossref","first-page":"569","DOI":"10.3389\/fendo.2019.00569","article-title":"Autophagic and proteasomal mediated removal of mutant androgen receptor in muscle models of spinal and bulbar muscular atrophy","volume":"10","author":"Cicardi","year":"2019","journal-title":"Front Endocrinol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0680","doi-asserted-by":"crossref","first-page":"2168","DOI":"10.1096\/fj.06-5911fje","article-title":"Abnormal small heat shock protein interactions involving neuropathy-associated HSP22 (HSPB8) mutants","volume":"20","author":"Fontaine","year":"2006","journal-title":"Faseb J"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0685","doi-asserted-by":"crossref","first-page":"3254","DOI":"10.1093\/hmg\/ddq234","article-title":"Mutant HSPB8 causes motor neuron-specific neurite degeneration","volume":"19","author":"Irobi","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0690","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1212\/WNL.0000000000002324","article-title":"Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy","volume":"86","author":"Ghaoui","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0695","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1080\/15548627.2017.1308985","article-title":"Inhibition of retrograde transport modulates misfolded protein accumulation and clearance in motoneuron diseases","volume":"13","author":"Cristofani","year":"2017","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0700","doi-asserted-by":"crossref","first-page":"176","DOI":"10.3389\/fnmol.2017.00176","article-title":"The role of the heat shock protein B8 (HSPB8) in motoneuron diseases","volume":"10","author":"Rusmini","year":"2017","journal-title":"Front Mol Neurosci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0705","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.cub.2009.11.022","article-title":"Chaperone-assisted selective autophagy is essential for muscle maintenance","volume":"20","author":"Arndt","year":"2010","journal-title":"Curr Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0710","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002321","article-title":"Macroautophagy is regulated by the UPR-mediator CHOP and accentuates the phenotype of SBMA mice","volume":"7","author":"Yu","year":"2011","journal-title":"PLoS Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0715","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1093\/hmg\/ddt527","article-title":"Transcriptional activation of TFEB\/ZKSCAN3 target genes underlies enhanced autophagy in spinobulbar muscular atrophy","volume":"23","author":"Chua","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0720","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1038\/nn.3787","article-title":"Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA","volume":"17","author":"Cortes","year":"2014","journal-title":"Nat Neurosci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0725","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s00401-016-1550-4","article-title":"Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet","volume":"132","author":"Rocchi","year":"2016","journal-title":"Acta Neuropathol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0730","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1093\/hmg\/ddv631","article-title":"Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms","volume":"25","author":"Gautam","year":"2016","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0735","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1038\/s41467-017-00689-z","article-title":"Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease","volume":"8","author":"Luningschror","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0740","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.05597","article-title":"The GTPase Rab26 links synaptic vesicles to the autophagy pathway","volume":"4","author":"Binotti","year":"2015","journal-title":"Elife"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0745","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1086\/518900","article-title":"The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset","volume":"81","author":"Maystadt","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0750","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1186\/1750-1172-8-104","article-title":"Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease","volume":"8","author":"Kim","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0755","doi-asserted-by":"crossref","first-page":"4224","DOI":"10.1093\/hmg\/ddt274","article-title":"PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease","volume":"22","author":"Azzedine","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0760","doi-asserted-by":"crossref","first-page":"1764.e9","DOI":"10.1016\/j.neurobiolaging.2014.12.032","article-title":"The distinct genetic pattern of ALS in Turkey and novel mutations","volume":"36","author":"Ozoguz","year":"2015","journal-title":"Neurobiol Aging"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0765","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.15252\/embj.201593517","article-title":"Droplet organelles?","volume":"35","author":"Courchaine","year":"2016","journal-title":"Embo J"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0770","doi-asserted-by":"crossref","first-page":"7160","DOI":"10.1074\/jbc.REV118.001188","article-title":"Matter over mind: liquid phase separation and neurodegeneration","volume":"294","author":"Elbaum-Garfinkle","year":"2019","journal-title":"J Biol Chem"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0775","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1016\/j.cell.2013.05.037","article-title":"Eukaryotic stress granules are cleared by autophagy and Cdc48\/VCP function","volume":"153","author":"Buchan","year":"2013","journal-title":"Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0780","first-page":"3877","article-title":"The VCP\/p97 system at a glance: connecting cellular function to disease pathogenesis","volume":"127","author":"Meyer","year":"2014","journal-title":"J Cell Sci"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0785","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/ncb2407","article-title":"Emerging functions of the VCP\/p97 AAA-ATPase in the ubiquitin system","volume":"14","author":"Meyer","year":"2012","journal-title":"Nat Cell Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0790","doi-asserted-by":"crossref","first-page":"217","DOI":"10.4161\/auto.6.2.11014","article-title":"VCP\/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD","volume":"6","author":"Tresse","year":"2010","journal-title":"Autophagy"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0795","doi-asserted-by":"crossref","first-page":"12646","DOI":"10.1038\/ncomms12646","article-title":"VCP recruitment to mitochondria causes mitophagy impairment and neurodegeneration in models of Huntington's disease","volume":"7","author":"Guo","year":"2016","journal-title":"Nat Commun"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0800","doi-asserted-by":"crossref","first-page":"135","DOI":"10.15252\/embj.201695148","article-title":"VCP\/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy","volume":"36","author":"Papadopoulos","year":"2017","journal-title":"Embo J"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0805","doi-asserted-by":"crossref","first-page":"12415","DOI":"10.1038\/s41598-018-30963-z","article-title":"UBXD1 is a mitochondrial recruitment factor for p97\/VCP and promotes mitophagy","volume":"8","author":"Bento","year":"2018","journal-title":"Sci Rep"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0810","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1016\/j.cell.2015.07.047","article-title":"A liquid-to-solid phase transition of the als protein fus accelerated by disease mutation","volume":"162","author":"Patel","year":"2015","journal-title":"Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0815","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0013250","article-title":"Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue","volume":"5","author":"Liu-Yesucevitz","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0820","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1016\/j.neuron.2014.12.010","article-title":"Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS\/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death","volume":"84","author":"Wen","year":"2014","journal-title":"Neuron"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0825","doi-asserted-by":"crossref","first-page":"3062","DOI":"10.1007\/s12035-016-9850-1","article-title":"C9ORF72 regulates stress granule formation and its deficiency impairs stress granule assembly, hypersensitizing cells to stress","volume":"54","author":"Maharjan","year":"2017","journal-title":"Mol Neurobiol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0830","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1016\/j.cell.2016.10.002","article-title":"C9orf72 dipeptide repeats impair the assembly, dynamics, and function of membrane-less organelles","volume":"167","author":"Lee","year":"2016","journal-title":"Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0835","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1016\/j.molcel.2017.02.013","article-title":"Phase separation of C9orf72 dipeptide repeats perturbs stress granule dynamics","volume":"65","author":"Boeynaems","year":"2017","journal-title":"Mol Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0840","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1038\/s41591-018-0071-1","article-title":"Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis","volume":"24","author":"Zhang","year":"2018","journal-title":"Nat Med"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0845","doi-asserted-by":"crossref","first-page":"2794","DOI":"10.1038\/s41467-018-05273-7","article-title":"A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy","volume":"9","author":"Chitiprolu","year":"2018","journal-title":"Nat Commun"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0850","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1074\/mcp.M300088-MCP200","article-title":"A proteomic analysis of arginine-methylated protein complexes","volume":"2","author":"Boisvert","year":"2003","journal-title":"Mol Cell Proteomics"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0855","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/j.cell.2019.02.043","article-title":"Yeast ataxin-2 forms an intracellular condensate required for the inhibition of TORC1 signaling during respiratory growth","volume":"177","author":"Yang","year":"2019","journal-title":"Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0860","doi-asserted-by":"crossref","first-page":"27803","DOI":"10.1074\/jbc.M115.642900","article-title":"Syk Is recruited to stress granules and promotes their clearance through autophagy","volume":"290","author":"Krisenko","year":"2015","journal-title":"J Biol Chem"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0865","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1261\/rna.057224.116","article-title":"Defects in THO\/TREX-2 function cause accumulation of novel cytoplasmic mRNP granules that can be cleared by autophagy","volume":"22","author":"Eshleman","year":"2016","journal-title":"RNA"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0870","doi-asserted-by":"crossref","first-page":"44088","DOI":"10.1038\/srep44088","article-title":"Modulation of p-eIF2alpha cellular levels and stress granule assembly\/disassembly by trehalose","volume":"7","author":"Dimasi","year":"2017","journal-title":"Sci Rep"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0875","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.cell.2017.12.032","article-title":"Context-dependent and disease-specific diversity in protein interactions within stress granules","volume":"172","author":"Markmiller","year":"2018","journal-title":"Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0880","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1093\/hmg\/ddy047","article-title":"Traumatic injury induces stress granule formation and enhances motor dysfunctions in ALS\/FTD models","volume":"27","author":"Anderson","year":"2018","journal-title":"Hum Mol Genet"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0885","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.stemcr.2017.12.018","article-title":"Isogenic FUS-eGFP iPSC reporter lines enable quantification of FUS stress granule pathology that is rescued by drugs inducing autophagy","volume":"10","author":"Marrone","year":"2018","journal-title":"Stem Cell Rep"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0890","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/s00401-019-01998-x","article-title":"FUS pathology in ALS is linked to alterations in multiple ALS-associated proteins and rescued by drugs stimulating autophagy","volume":"138","author":"Marrone","year":"2019","journal-title":"Acta Neuropathol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0895","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/j.molcel.2016.07.021","article-title":"A surveillance function of the HSPB8-BAG3-HSP70 chaperone complex ensures stress granule integrity and dynamism","volume":"63","author":"Ganassi","year":"2016","journal-title":"Mol Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0900","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.15252\/embj.201695957","article-title":"An aberrant phase transition of stress granules triggered by misfolded protein and prevented by chaperone function","volume":"36","author":"Mateju","year":"2017","journal-title":"Embo J"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0905","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1091\/mbc.e06-12-1079","article-title":"Inhibition of the ubiquitin-proteasome system induces stress granule formation","volume":"18","author":"Mazroui","year":"2007","journal-title":"Mol Biol Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0910","doi-asserted-by":"crossref","first-page":"2452","DOI":"10.1016\/j.cub.2013.09.058","article-title":"Coordination of translational control and protein homeostasis during severe heat stress","volume":"23","author":"Cherkasov","year":"2013","journal-title":"Curr Biol"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0915","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.06807","article-title":"Promiscuous interactions and protein disaggregases determine the material state of stress-inducible RNP granules","volume":"4","author":"Kroschwald","year":"2015","journal-title":"Elife"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0920","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.cell.2015.12.038","article-title":"ATPase-modulated stress granules contain a diverse proteome and substructure","volume":"164","author":"Jain","year":"2016","journal-title":"Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0925","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1016\/j.molcel.2019.03.027","article-title":"ULK1 and ULK2 regulate stress granule disassembly through phosphorylation and activation of VCP\/p97","volume":"74","author":"Wang","year":"2019","journal-title":"Mol Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0930","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.molcel.2017.12.020","article-title":"High-density proximity mapping reveals the subcellular organization of mRNA-associated granules and bodies","volume":"69","author":"Youn","year":"2018","journal-title":"Mol Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0935","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.cell.2018.09.048","article-title":"Biological functions of autophagy genes: a disease perspective","volume":"176","author":"Levine","year":"2019","journal-title":"Cell"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0940","doi-asserted-by":"crossref","first-page":"E11485","DOI":"10.1073\/pnas.1811997115","article-title":"Ubiquilin 2 modulates ALS\/FTD-linked FUS-RNA complex dynamics and stress granule formation","volume":"115","author":"Alexander","year":"2018","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/bs.pmbts.2020.03.009_bb0945","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.3389\/fimmu.2018.01017","article-title":"Dysfunction of optineurin in amyotrophic lateral sclerosis and glaucoma","volume":"9","author":"Toth","year":"2018","journal-title":"Front Immunol"}],"container-title":["Progress in Molecular Biology and Translational Science","Autophagy in health and disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1877117320300442?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1877117320300442?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T04:02:59Z","timestamp":1761796979000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1877117320300442"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"ISBN":["9780128220214"],"references-count":188,"URL":"https:\/\/doi.org\/10.1016\/bs.pmbts.2020.03.009","relation":{},"ISSN":["1877-1173"],"issn-type":[{"value":"1877-1173","type":"print"}],"subject":[],"published":{"date-parts":[[2020]]}}}