{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T15:04:29Z","timestamp":1790089469407,"version":"4.0.1"},"reference-count":58,"publisher":"Rockefeller University Press","issue":"1","license":[{"start":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T00:00:00Z","timestamp":1699315200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["RS-2023-00225239"],"award-info":[{"award-number":["RS-2023-00225239"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014188","name":"Ministry of Science and ICT","doi-asserted-by":"publisher","award":["2015M3A9D9067483"],"award-info":[{"award-number":["2015M3A9D9067483"]}],"id":[{"id":"10.13039\/501100014188","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014188","name":"Ministry of Science and ICT","doi-asserted-by":"publisher","award":["2020R1C1C1007034"],"award-info":[{"award-number":["2020R1C1C1007034"]}],"id":[{"id":"10.13039\/501100014188","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003715","name":"Korea Research Institute of Bioscience and Biotechnology","doi-asserted-by":"publisher","award":["1711196119"],"award-info":[{"award-number":["1711196119"]}],"id":[{"id":"10.13039\/501100003715","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,1,1]]},"abstract":"<jats:p>ARL6IP1 is implicated in hereditary spastic paraplegia (HSP), but the specific pathogenic mechanism leading to neurodegeneration has not been elucidated. Here, we clarified the molecular mechanism of ARL6IP1 in HSP using in vitro and in vivo models. The Arl6ip1 knockout (KO) mouse model was generated to represent the clinically involved frameshift mutations and mimicked the HSP phenotypes. Notably, in vivo brain histopathological analysis revealed demyelination of the axon and neuroinflammation in the white matter, including the corticospinal tract. In in vitro experiments, ARL6IP1 silencing caused cell death during neuronal differentiation and mitochondrial dysfunction by dysregulated autophagy. ARL6IP1 localized on mitochondria-associated membranes (MAMs) to maintain endoplasmic reticulum and mitochondrial homeostasis via direct interaction with LC3B and BCl2L13. ARL6IP1 played a crucial role in connecting the endoplasmic reticulum and mitochondria as a member of MAMs. ARL6IP1 gene therapy reduced HSP phenotypes and restored pathophysiological changes in the Arl6ip1 KO model. Our results established that ARL6IP1 could be a potential target for HSP gene therapy.<\/jats:p>","DOI":"10.1084\/jem.20230367","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T02:21:03Z","timestamp":1695694863000},"update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":14,"title":["<i>ARL6IP1<\/i>\n                    gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model"],"prefix":"10.1084","volume":"221","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8292-9651","authenticated-orcid":true,"given":"Jung Hwa","family":"Lim","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"},{"id":[{"id":"https:\/\/ror.org\/000qzf213","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea University of Science and Technology 2 Department of Functional Genomics, , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2483-0776","authenticated-orcid":true,"given":"Hyun Mi","family":"Kang","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"},{"id":[{"id":"https:\/\/ror.org\/000qzf213","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea University of Science and Technology 2 Department of Functional Genomics, , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4154-3506","authenticated-orcid":true,"given":"Dae Hun","family":"Kim","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"},{"id":[{"id":"https:\/\/ror.org\/000qzf213","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea University of Science and Technology 2 Department of Functional Genomics, , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0445-7852","authenticated-orcid":true,"given":"Bohyeon","family":"Jeong","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0892-0376","authenticated-orcid":true,"given":"Da Yong","family":"Lee","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"},{"id":[{"id":"https:\/\/ror.org\/000qzf213","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea University of Science and Technology 2 Department of Functional Genomics, , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4634-8489","authenticated-orcid":true,"given":"Jae-Ran","family":"Lee","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"},{"id":[{"id":"https:\/\/ror.org\/000qzf213","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea University of Science and Technology 2 Department of Functional Genomics, , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9756-6083","authenticated-orcid":true,"given":"Jeong Yeob","family":"Baek","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8242-9390","authenticated-orcid":true,"given":"Hyun-Soo","family":"Cho","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"},{"id":[{"id":"https:\/\/ror.org\/000qzf213","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea University of Science and Technology 2 Department of Functional Genomics, , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7590-8812","authenticated-orcid":true,"given":"Mi-Young","family":"Son","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"},{"id":[{"id":"https:\/\/ror.org\/000qzf213","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea University of Science and Technology 2 Department of Functional Genomics, , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4999-1613","authenticated-orcid":true,"given":"Dae Soo","family":"Kim","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"},{"id":[{"id":"https:\/\/ror.org\/000qzf213","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea University of Science and Technology 2 Department of Functional Genomics, , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7624-0690","authenticated-orcid":true,"given":"Nam-Soon","family":"Kim","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"},{"id":[{"id":"https:\/\/ror.org\/000qzf213","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea University of Science and Technology 2 Department of Functional Genomics, , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4474-6563","authenticated-orcid":true,"given":"Cho-Rok","family":"Jung","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03ep23f07","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea Research Institute of Bioscience and Biotechnology 1 , Daejeon, Republic of Korea"},{"id":[{"id":"https:\/\/ror.org\/000qzf213","id-type":"ROR","asserted-by":"publisher"}],"name":"Korea University of Science and Technology 2 Department of Functional Genomics, , Daejeon, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2023,11,7]]},"reference":[{"key":"2023110715003763000_bib1","doi-asserted-by":"publisher","first-page":"4273","DOI":"10.1172\/JCI65665","article-title":"A spastic paraplegia mouse model reveals REEP1-dependent ER shaping","volume":"123","author":"Beetz","year":"2013","journal-title":"J. Clin. Invest."},{"key":"2023110715003763000_bib2","doi-asserted-by":"publisher","first-page":"875","DOI":"10.1093\/brain\/awv008","article-title":"Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration","volume":"138","author":"Bernard-Marissal","year":"2015","journal-title":"Brain"},{"key":"2023110715003763000_bib3","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1146\/annurev-neuro-062111-150400","article-title":"Cellular pathways of hereditary spastic paraplegia","volume":"35","author":"Blackstone","year":"2012","journal-title":"Annu. Rev. Neurosci."},{"key":"2023110715003763000_bib4","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1016\/j.ceb.2006.06.008","article-title":"Endoplasmic reticulum architecture: Structures in flux","volume":"18","author":"Borgese","year":"2006","journal-title":"Curr. Opin. Cell Biol."},{"key":"2023110715003763000_bib5","doi-asserted-by":"publisher","first-page":"14954","DOI":"10.1073\/pnas.1307391110","article-title":"Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation","volume":"110","author":"Chang","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2023110715003763000_bib6","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/s12017-013-8271-9","article-title":"The role of reticulons in neurodegenerative diseases","volume":"16","author":"Chiurchi\u00f9","year":"2014","journal-title":"NeuroMolecular Med."},{"key":"2023110715003763000_bib7","doi-asserted-by":"publisher","first-page":"71","DOI":"10.3389\/fcell.2016.00071","article-title":"Oligodendrocyte, astrocyte, and microglia crosstalk in myelin development, damage, and repair","volume":"4","author":"Domingues","year":"2016","journal-title":"Front. Cell Dev. Biol."},{"key":"2023110715003763000_bib8","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1038\/s41419-019-2099-7","article-title":"Modulation of autophagy by RTN-1C: Role in autophagosome biogenesis","volume":"10","author":"D\u2019 Eletto","year":"2019","journal-title":"Cell Death Dis."},{"key":"2023110715003763000_bib9","doi-asserted-by":"publisher","first-page":"2827","DOI":"10.1093\/hmg\/ddw139","article-title":"ER-shaping proteins are required for ER and mitochondrial network organization in motor neurons","volume":"25","author":"Fowler","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"2023110715003763000_bib10","doi-asserted-by":"publisher","first-page":"828","DOI":"10.1136\/jnnp-2011-300129","article-title":"White and grey matter abnormalities in patients with SPG11 mutations","volume":"83","author":"Fran\u00e7a","year":"2012","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"2023110715003763000_bib11","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1038\/nrm2104","article-title":"The highways and byways of mRNA decay","volume":"8","author":"Garneau","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2023110715003763000_bib12","doi-asserted-by":"publisher","first-page":"2959","DOI":"10.1021\/bi2018909","article-title":"Role of mitochondrial Ca2+ in the regulation of cellular energetics","volume":"51","author":"Glancy","year":"2012","journal-title":"Biochemistry"},{"key":"2023110715003763000_bib13","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1523\/JNEUROSCI.2507-13.2014","article-title":"\u03b1-Synuclein is localized to mitochondria-associated ER membranes","volume":"34","author":"Guardia-Laguarta","year":"2014","journal-title":"J. Neurosci."},{"key":"2023110715003763000_bib14","doi-asserted-by":"publisher","first-page":"660714","DOI":"10.3389\/fnins.2021.660714","article-title":"Hereditary spastic paraplegia and future therapeutic directions: Beneficial effects of small compounds acting on cellular stress","volume":"15","author":"Gumeni","year":"2021","journal-title":"Front. Neurosci."},{"key":"2023110715003763000_bib15","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1038\/nature11910","article-title":"Autophagosomes form at ER-mitochondria contact sites","volume":"495","author":"Hamasaki","year":"2013","journal-title":"Nature"},{"key":"2023110715003763000_bib16","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1007\/s00234-005-1415-3","article-title":"Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia","volume":"47","author":"Hedera","year":"2005","journal-title":"Neuroradiology"},{"key":"2023110715003763000_bib17","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1002\/glia.22683","article-title":"The glia\/neuron ratio: How it varies uniformly across brain structures and species and what that means for brain physiology and evolution","volume":"62","author":"Herculano-Houzel","year":"2014","journal-title":"Glia"},{"key":"2023110715003763000_bib18","doi-asserted-by":"publisher","first-page":"936","DOI":"10.3174\/ajnr.A1483","article-title":"MR imaging findings in autosomal recessive hereditary spastic paraplegia","volume":"30","author":"Hourani","year":"2009","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"2023110715003763000_bib19","doi-asserted-by":"publisher","first-page":"1247","DOI":"10.1126\/science.1153634","article-title":"Membrane proteins of the endoplasmic reticulum induce high-curvature tubules","volume":"319","author":"Hu","year":"2008","journal-title":"Science"},{"key":"2023110715003763000_bib20","doi-asserted-by":"publisher","first-page":"3109","DOI":"10.1093\/brain\/awu287","article-title":"Membrane-shaping disorders: A common pathway in axon degeneration","volume":"137","author":"H\u00fcbner","year":"2014","journal-title":"Brain"},{"key":"2023110715003763000_bib21","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1038\/nature14498","article-title":"Regulation of endoplasmic reticulum turnover by selective autophagy","volume":"522","author":"Khaminets","year":"2015","journal-title":"Nature"},{"key":"2023110715003763000_bib22","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003988","article-title":"A hereditary spastic paraplegia mouse model supports a role of ZFYVE26\/SPASTIZIN for the endolysosomal system","volume":"9","author":"Khundadze","year":"2013","journal-title":"PLoS Genet."},{"key":"2023110715003763000_bib23","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1007\/s00401-015-1528-7","article-title":"Mitochondria-associated membranes as hubs for neurodegeneration","volume":"131","author":"Krols","year":"2016","journal-title":"Acta Neuropathol."},{"key":"2023110715003763000_bib24","doi-asserted-by":"publisher","first-page":"27","DOI":"10.12703\/r\/10-27","article-title":"Recent advances in understanding hereditary spastic paraplegias and emerging therapies","volume":"10","author":"Lallemant-Dudek","year":"2021","journal-title":"Fac. Rev."},{"key":"2023110715003763000_bib25","doi-asserted-by":"publisher","first-page":"3564","DOI":"10.1038\/emboj.2009.289","article-title":"Synapse formation regulated by protein tyrosine phosphatase receptor T through interaction with cell adhesion molecules and Fyn","volume":"28","author":"Lim","year":"2009","journal-title":"EMBO J."},{"key":"2023110715003763000_bib26","doi-asserted-by":"publisher","first-page":"112890","DOI":"10.1016\/j.biopha.2022.112890","article-title":"Mitochondria-associated membranes: A hub for neurodegenerative diseases","volume":"149","author":"Liu","year":"2022","journal-title":"Biomed. Pharmacother."},{"key":"2023110715003763000_bib27","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.ymeth.2012.10.004","article-title":"Methods for qPCR gene expression profiling applied to 1440 lymphoblastoid single cells","volume":"59","author":"Livak","year":"2013","journal-title":"Methods"},{"key":"2023110715003763000_bib28","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1016\/j.expneurol.2014.06.011","article-title":"Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms","volume":"261","author":"Lo Giudice","year":"2014","journal-title":"Exp. Neurol."},{"key":"2023110715003763000_bib29","first-page":"508","article-title":"ARMER, apoptotic regulator in the membrane of the endoplasmic reticulum, A novel inhibitor of apoptosis","volume":"1","author":"Lui","year":"2003","journal-title":"Mol. Cancer Res."},{"key":"2023110715003763000_bib30","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1038\/s41419-017-0027-2","article-title":"Mitochondria-associated membranes (MAMs) and inflammation","volume":"9","author":"Missiroli","year":"2018","journal-title":"Cell Death Dis."},{"key":"2023110715003763000_bib31","doi-asserted-by":"publisher","first-page":"7527","DOI":"10.1038\/ncomms8527","article-title":"Bcl-2-like protein 13 is a mammalian Atg32 homologue that mediates mitophagy and mitochondrial fragmentation","volume":"6","author":"Murakawa","year":"2015","journal-title":"Nat. Commun."},{"key":"2023110715003763000_bib32","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1016\/j.celrep.2018.12.050","article-title":"A mammalian mitophagy receptor, Bcl2-L-13, recruits the ULK1 complex to induce mitophagy","volume":"26","author":"Murakawa","year":"2019","journal-title":"Cell Rep."},{"key":"2023110715003763000_bib33","doi-asserted-by":"publisher","first-page":"5329","DOI":"10.1523\/JNEUROSCI.20-14-05329.2000","article-title":"Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons","volume":"20","author":"Nakayama","year":"2000","journal-title":"J. Neurosci."},{"key":"2023110715003763000_bib34","doi-asserted-by":"publisher","first-page":"1719","DOI":"10.15252\/embj.201695189","article-title":"Autophagosome formation is initiated at phosphatidylinositol synthase-enriched ER subdomains","volume":"36","author":"Nishimura","year":"2017","journal-title":"EMBO J."},{"key":"2023110715003763000_bib35","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1111\/cge.13048","article-title":"ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia","volume":"93","author":"Nizon","year":"2018","journal-title":"Clin. Genet."},{"key":"2023110715003763000_bib36","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1126\/science.1247363","article-title":"Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders","volume":"343","author":"Novarino","year":"2014","journal-title":"Science"},{"key":"2023110715003763000_bib37","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1016\/j.tins.2016.01.008","article-title":"There\u2019s something wrong with my MAM; the ER\u2013mitochondria axis and neurodegenerative diseases","volume":"39","author":"Paillusson","year":"2016","journal-title":"Trends Neurosci."},{"key":"2023110715003763000_bib38","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1038\/embor.2010.92","article-title":"Further assembly required: Construction and dynamics of the endoplasmic reticulum network","volume":"11","author":"Park","year":"2010","journal-title":"EMBO Rep."},{"key":"2023110715003763000_bib39","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1172\/JCI40979","article-title":"Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network","volume":"120","author":"Park","year":"2010","journal-title":"J. Clin. Invest."},{"key":"2023110715003763000_bib40","doi-asserted-by":"publisher","first-page":"4518","DOI":"10.1242\/jcs.105502","article-title":"Regulation of dendritic arborization by BCR Rac1 GTPase-activating protein, a substrate of PTPRT","volume":"125","author":"Park","year":"2012","journal-title":"J. Cell Sci."},{"key":"2023110715003763000_bib41","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/bs.ircmb.2019.11.002","article-title":"The role of mitochondria-associated membranes in cellular homeostasis and diseases","volume":"350","author":"Perrone","year":"2020","journal-title":"Int. Rev. Cell Mol. Biol."},{"key":"2023110715003763000_bib42","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1038\/s41419-018-0424-1","article-title":"Mitochondria-associated membranes (MAMs) and pathologies","volume":"9","author":"Pinton","year":"2018","journal-title":"Cell Death Dis."},{"key":"2023110715003763000_bib43","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1007\/s10571-020-00893-4","article-title":"The regulatory role of reticulons in neurodegeneration: Insights underpinning therapeutic potential for neurodegenerative diseases","volume":"41","author":"Pradhan","year":"2021","journal-title":"Cell. Mol. Neurobiol."},{"key":"2023110715003763000_bib44","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1111\/j.1552-6569.2008.00327.x","article-title":"Forceps minor region signal abnormality \u201cears of the lynx\u201d: An early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15","volume":"19","author":"Riverol","year":"2009","journal-title":"J. Neuroimaging"},{"key":"2023110715003763000_bib45","doi-asserted-by":"publisher","first-page":"3961","DOI":"10.1096\/fj.201600698R","article-title":"LC3\/GABARAP family proteins: autophagy-(un)related functions","volume":"30","author":"Schaaf","year":"2016","journal-title":"FASEB J."},{"key":"2023110715003763000_bib46","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.mcn.2012.07.011","article-title":"Mitochondria-associated ER membranes in Alzheimer disease","volume":"55","author":"Schon","year":"2013","journal-title":"Mol. Cell. Neurosci."},{"key":"2023110715003763000_bib47","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1083\/jcb.200907074","article-title":"Membrane expansion alleviates endoplasmic reticulum stress independently of the unfolded protein response","volume":"187","author":"Schuck","year":"2009","journal-title":"J. Cell Biol."},{"key":"2023110715003763000_bib48","doi-asserted-by":"publisher","first-page":"1136","DOI":"10.1016\/S1474-4422(19)30235-2","article-title":"Hereditary spastic paraplegia: From diagnosis to emerging therapeutic approaches","volume":"18","author":"Shribman","year":"2019","journal-title":"Lancet Neurol."},{"key":"2023110715003763000_bib49","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1007\/s00439-015-1536-7","article-title":"Delving into the complexity of hereditary spastic paraplegias: How unexpected phenotypes and inheritance modes are revolutionizing their nosology","volume":"134","author":"Tesson","year":"2015","journal-title":"Hum. Genet."},{"key":"2023110715003763000_bib50","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/tra.12230","article-title":"Phospholipid synthesis and transport in mammalian cells","volume":"16","author":"Vance","year":"2015","journal-title":"Traffic"},{"key":"2023110715003763000_bib51","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1016\/j.cell.2005.11.047","article-title":"A class of membrane proteins shaping the tubular endoplasmic reticulum","volume":"124","author":"Voeltz","year":"2006","journal-title":"Cell"},{"key":"2023110715003763000_bib52","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1126\/science.1209038","article-title":"The unfolded protein response: From stress pathway to homeostatic regulation","volume":"334","author":"Walter","year":"2011","journal-title":"Science"},{"key":"2023110715003763000_bib53","doi-asserted-by":"publisher","first-page":"1582","DOI":"10.1038\/nprot.2009.151","article-title":"Isolation of mitochondria-associated membranes and mitochondria from animal tissues and cells","volume":"4","author":"Wieckowski","year":"2009","journal-title":"Nat. Protoc."},{"key":"2023110715003763000_bib54","doi-asserted-by":"publisher","first-page":"1804","DOI":"10.1038\/s41418-020-00705-8","article-title":"ER-Mitochondria contact sites in neurodegeneration: Genetic screening approaches to investigate novel disease mechanisms","volume":"28","author":"Wilson","year":"2021","journal-title":"Cell Death Differ."},{"key":"2023110715003763000_bib55","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1042\/BJ20131186","article-title":"Arl6IP1 has the ability to shape the mammalian ER membrane in a reticulon-like fashion","volume":"458","author":"Yamamoto","year":"2014","journal-title":"Biochem. J."},{"key":"2023110715003763000_bib56","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1042\/EBC20170021","article-title":"The mammalian ULK1 complex and autophagy initiation","volume":"61","author":"Zachari","year":"2017","journal-title":"Essays Biochem."},{"key":"2023110715003763000_bib57","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/s13024-020-00406-3","article-title":"Neurofilaments in motor neuron disorders: Towards promising diagnostic and prognostic biomarkers","volume":"15","author":"Zucchi","year":"2020","journal-title":"Mol. Neurodegener."},{"key":"2023110715003763000_bib58","doi-asserted-by":"publisher","first-page":"3805","DOI":"10.1242\/dev.129304","article-title":"Glia in mammalian development and disease","volume":"142","author":"Zuchero","year":"2015","journal-title":"Development"}],"container-title":["Journal of Experimental Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/rupress.org\/jem\/article-pdf\/doi\/10.1084\/jem.20230367\/1920583\/jem_20230367.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/rupress.org\/jem\/article-pdf\/doi\/10.1084\/jem.20230367\/1920583\/jem_20230367.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T10:04:17Z","timestamp":1699351457000},"score":1,"resource":{"primary":{"URL":"https:\/\/rupress.org\/jem\/article\/221\/1\/e20230367\/276392\/ARL6IP1-gene-delivery-reduces-neuroinflammation"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,7]]},"references-count":58,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1,1]]}},"URL":"https:\/\/doi.org\/10.1084\/jem.20230367","relation":{},"ISSN":["0022-1007","1540-9538"],"issn-type":[{"value":"0022-1007","type":"print"},{"value":"1540-9538","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,7]]},"article-number":"e20230367"}}