{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T02:02:05Z","timestamp":1792202525616,"version":"4.4.0"},"reference-count":93,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Johann Wolfgang Goethe-Universit\u00e4t, Frankfurt am Main"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Human <jats:italic>RNF213<\/jats:italic>, which encodes the protein mysterin, is a known susceptibility gene for moyamoya disease (MMD), a cerebrovascular condition with occlusive lesions and compensatory angiogenesis. Mysterin mutations, together with exposure to environmental trigger factors, lead to an elevated stroke risk since childhood. Mysterin is induced during cell stress, to function as cytosolic AAA+ ATPase and ubiquitylation enzyme. Little knowledge exists, in which context mysterin is needed. Here, we found that genetic ablation of several mitochondrial matrix factors, such as the peptidase <jats:italic>ClpP<\/jats:italic>, the transcription factor <jats:italic>Tfam<\/jats:italic>, as well as the peptidase and AAA+ ATPase <jats:italic>Lonp1<\/jats:italic>, potently induces <jats:italic>Rnf213<\/jats:italic> transcript expression in various organs, in parallel with other components of the innate immune system. Mostly in mouse fibroblasts and human endothelial cells, the <jats:italic>Rnf213<\/jats:italic> levels showed prominent upregulation upon Poly(I:C)-triggered TLR3-mediated responses to dsRNA toxicity, as well as upon interferon gamma treatment. Only partial suppression of <jats:italic>Rnf213<\/jats:italic> induction was achieved by C16 as an antagonist of PKR (dsRNA-dependent protein kinase). Since dysfunctional mitochondria were recently reported to release immune-stimulatory dsRNA into the cytosol, our results suggest that mysterin becomes relevant when mitochondrial dysfunction or infections have triggered RNA-dependent inflammation. Thus, MMD has similarities with vasculopathies that involve altered nucleotide processing, such as Aicardi-Gouti\u00e8res syndrome or systemic lupus erythematosus. Furthermore, in MMD, the low penetrance of <jats:italic>RNF213<\/jats:italic> mutations might be modified by dysfunctions in mitochondria or the TLR3 pathway.<\/jats:p>","DOI":"10.1007\/s10048-020-00609-2","type":"journal-article","created":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T01:02:22Z","timestamp":1588035742000},"page":"187-203","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease"],"prefix":"10.1007","volume":"21","author":[{"given":"Jana","family":"Key","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Maletzko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aneesha","family":"Kohli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzana","family":"Gispert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Torres-Odio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilka","family":"Wittig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"Heidler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clea","family":"B\u00e1rcena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"L\u00f3pez-Ot\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanjiu","family":"Lei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Phillip","family":"West","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"M\u00fcnch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Auburger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,4,28]]},"reference":[{"issue":"12","key":"609_CR1","doi-asserted-by":"publisher","first-page":"a004390","DOI":"10.1101\/cshperspect.a004390","volume":"2","author":"RM Vabulas","year":"2010","unstructured":"Vabulas RM, Raychaudhuri S, Hayer-Hartl M, Hartl FU (2010) Protein folding in the cytoplasm and the heat shock response. Cold Spring Harb Perspect Biol 2(12):a004390. https:\/\/doi.org\/10.1101\/cshperspect.a004390","journal-title":"Cold Spring Harb Perspect Biol"},{"issue":"7586","key":"609_CR2","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1038\/nature17041","volume":"529","author":"M Wang","year":"2016","unstructured":"Wang M, Kaufman RJ (2016) Protein misfolding in the endoplasmic reticulum as a conduit to human disease. Nature 529(7586):326\u2013335. https:\/\/doi.org\/10.1038\/nature17041","journal-title":"Nature"},{"issue":"Pt 22","key":"609_CR3","doi-asserted-by":"publisher","first-page":"3849","DOI":"10.1242\/jcs.075119","volume":"123","author":"CM Haynes","year":"2010","unstructured":"Haynes CM, Ron D (2010) The mitochondrial UPR - protecting organelle protein homeostasis. J Cell Sci 123(Pt 22):3849\u20133855. https:\/\/doi.org\/10.1242\/jcs.075119","journal-title":"J Cell Sci"},{"issue":"Pt 1","key":"609_CR4","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1242\/jeb.090738","volume":"217","author":"V Jovaisaite","year":"2014","unstructured":"Jovaisaite V, Mouchiroud L, Auwerx J (2014) The mitochondrial unfolded protein response, a conserved stress response pathway with implications in health and disease. J Exp Biol 217(Pt 1):137\u2013143. https:\/\/doi.org\/10.1242\/jeb.090738","journal-title":"J Exp Biol"},{"issue":"1","key":"609_CR5","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.bbamcr.2011.06.007","volume":"1823","author":"TA Baker","year":"2012","unstructured":"Baker TA, Sauer RT (2012) ClpXP, an ATP-powered unfolding and protein-degradation machine. Biochim Biophys Acta 1823(1):15\u201328. https:\/\/doi.org\/10.1016\/j.bbamcr.2011.06.007","journal-title":"Biochim Biophys Acta"},{"issue":"7","key":"609_CR6","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1016\/j.cell.2005.04.012","volume":"121","author":"J Hinnerwisch","year":"2005","unstructured":"Hinnerwisch J, Fenton WA, Furtak KJ, Farr GW, Horwich AL (2005) Loops in the central channel of ClpA chaperone mediate protein binding, unfolding, and translocation. Cell 121(7):1029\u20131041. https:\/\/doi.org\/10.1016\/j.cell.2005.04.012","journal-title":"Cell"},{"issue":"4","key":"609_CR7","doi-asserted-by":"publisher","first-page":"C516","DOI":"10.1152\/ajpcell.00275.2017","volume":"315","author":"AN Oliveira","year":"2018","unstructured":"Oliveira AN, Hood DA (2018) Effect of Tim23 knockdown in vivo on mitochondrial protein import and retrograde signaling to the UPR(mt) in muscle. Am J Phys Cell Phys 315(4):C516\u2013C526. https:\/\/doi.org\/10.1152\/ajpcell.00275.2017","journal-title":"Am J Phys Cell Phys"},{"issue":"4","key":"609_CR8","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1016\/j.devcel.2007.07.016","volume":"13","author":"CM Haynes","year":"2007","unstructured":"Haynes CM, Petrova K, Benedetti C, Yang Y, Ron D (2007) ClpP mediates activation of a mitochondrial unfolded protein response in C. elegans. Dev Cell 13(4):467\u2013480. https:\/\/doi.org\/10.1016\/j.devcel.2007.07.016","journal-title":"Dev Cell"},{"issue":"2","key":"609_CR9","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1016\/j.bbamcr.2012.02.019","volume":"1833","author":"MW Pellegrino","year":"2013","unstructured":"Pellegrino MW, Nargund AM, Haynes CM (2013) Signaling the mitochondrial unfolded protein response. Biochim Biophys Acta 1833(2):410\u2013416. https:\/\/doi.org\/10.1016\/j.bbamcr.2012.02.019","journal-title":"Biochim Biophys Acta"},{"issue":"23","key":"609_CR10","doi-asserted-by":"publisher","first-page":"2566","DOI":"10.15252\/embj.201694253","volume":"35","author":"K Szczepanowska","year":"2016","unstructured":"Szczepanowska K, Maiti P, Kukat A, Hofsetz E, Nolte H, Senft K, Becker C, Ruzzenente B, Hornig-Do HT, Wibom R, Wiesner RJ, Kruger M, Trifunovic A (2016) CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels. EMBO J 35(23):2566\u20132583. https:\/\/doi.org\/10.15252\/embj.201694253","journal-title":"EMBO J"},{"issue":"4","key":"609_CR11","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1016\/j.ajhg.2013.02.013","volume":"92","author":"EM Jenkinson","year":"2013","unstructured":"Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT, Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG (2013) Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92(4):605\u2013613. https:\/\/doi.org\/10.1016\/j.ajhg.2013.02.013","journal-title":"Am J Hum Genet"},{"issue":"24","key":"609_CR12","doi-asserted-by":"publisher","first-page":"4871","DOI":"10.1093\/hmg\/ddt338","volume":"22","author":"S Gispert","year":"2013","unstructured":"Gispert S, Parganlija D, Klinkenberg M, Drose S, Wittig I, Mittelbronn M, Grzmil P, Koob S, Hamann A, Walter M, Buchel F, Adler T, Hrabe de Angelis M, Busch DH, Zell A, Reichert AS, Brandt U, Osiewacz HD, Jendrach M, Auburger G (2013) Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors. Hum Mol Genet 22(24):4871\u20134887. https:\/\/doi.org\/10.1093\/hmg\/ddt338","journal-title":"Hum Mol Genet"},{"key":"609_CR13","doi-asserted-by":"publisher","unstructured":"Bhaskaran S, Pharaoh G, Ranjit R, Murphy A, Matsuzaki S, Nair BC, Forbes B, Gispert S, Auburger G, Humphries KM, Kinter M, Griffin TM, Deepa SS (2018) Loss of mitochondrial protease ClpP protects mice from diet-induced obesity and insulin resistance. EMBO Rep 19(3). https:\/\/doi.org\/10.15252\/embr.201745009","DOI":"10.15252\/embr.201745009"},{"issue":"4","key":"609_CR14","doi-asserted-by":"publisher","first-page":"e12784","DOI":"10.1111\/acel.12784","volume":"17","author":"T Wang","year":"2018","unstructured":"Wang T, Babayev E, Jiang Z, Li G, Zhang M, Esencan E, Horvath T, Seli E (2018) Mitochondrial unfolded protein response gene Clpp is required to maintain ovarian follicular reserve during aging, for oocyte competence, and development of pre-implantation embryos. Aging Cell 17(4):e12784. https:\/\/doi.org\/10.1111\/acel.12784","journal-title":"Aging Cell"},{"issue":"7285","key":"609_CR15","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1038\/nature08780","volume":"464","author":"Q Zhang","year":"2010","unstructured":"Zhang Q, Raoof M, Chen Y, Sumi Y, Sursal T, Junger W, Brohi K, Itagaki K, Hauser CJ (2010) Circulating mitochondrial DAMPs cause inflammatory responses to injury. Nature 464(7285):104\u2013107. https:\/\/doi.org\/10.1038\/nature08780","journal-title":"Nature"},{"issue":"7717","key":"609_CR16","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1038\/s41586-018-0363-0","volume":"560","author":"A Dhir","year":"2018","unstructured":"Dhir A, Dhir S, Borowski LS, Jimenez L, Teitell M, Rotig A, Crow YJ, Rice GI, Duffy D, Tamby C, Nojima T, Munnich A, Schiff M, de Almeida CR, Rehwinkel J, Dziembowski A, Szczesny RJ, Proudfoot NJ (2018) Mitochondrial double-stranded RNA triggers antiviral signalling in humans. Nature 560(7717):238\u2013242. https:\/\/doi.org\/10.1038\/s41586-018-0363-0","journal-title":"Nature"},{"key":"609_CR17","doi-asserted-by":"publisher","first-page":"13191","DOI":"10.1038\/srep13191","volume":"5","author":"K Ohkubo","year":"2015","unstructured":"Ohkubo K, Sakai Y, Inoue H, Akamine S, Ishizaki Y, Matsushita Y, Sanefuji M, Torisu H, Ihara K, Sardiello M, Hara T (2015) Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells. Sci Rep 5:13191. https:\/\/doi.org\/10.1038\/srep13191","journal-title":"Sci Rep"},{"issue":"1","key":"609_CR18","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.devcel.2015.12.015","volume":"36","author":"B Scholz","year":"2016","unstructured":"Scholz B, Korn C, Wojtarowicz J, Mogler C, Augustin I, Boutros M, Niehrs C, Augustin HG (2016) Endothelial RSPO3 controls vascular stability and pruning through non-canonical WNT\/Ca(2+)\/NFAT signaling. Dev Cell 36(1):79\u201393. https:\/\/doi.org\/10.1016\/j.devcel.2015.12.015","journal-title":"Dev Cell"},{"key":"609_CR19","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/j.brainres.2016.04.051","volume":"1644","author":"J Wen","year":"2016","unstructured":"Wen J, Sun X, Chen H, Liu H, Lai R, Li J, Wang Y, Zhang J, Sheng W (2016) Mutation of rnf213a by TALEN causes abnormal angiogenesis and circulation defects in zebrafish. Brain Res 1644:70\u201378. https:\/\/doi.org\/10.1016\/j.brainres.2016.04.051","journal-title":"Brain Res"},{"issue":"3","key":"609_CR20","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1083\/jcb.201712120","volume":"218","author":"M Sugihara","year":"2019","unstructured":"Sugihara M, Morito D, Ainuki S, Hirano Y, Ogino K, Kitamura A, Hirata H, Nagata K (2019) The AAA+ ATPase\/ubiquitin ligase mysterin stabilizes cytoplasmic lipid droplets. J Cell Biol 218(3):949\u2013960. https:\/\/doi.org\/10.1083\/jcb.201712120","journal-title":"J Cell Biol"},{"key":"609_CR21","doi-asserted-by":"publisher","unstructured":"Kobayashi H, Matsuda Y, Hitomi T, Okuda H, Shioi H, Matsuda T, Imai H, Sone M, Taura D, Harada KH, Habu T, Takagi Y, Miyamoto S, Koizumi A (2015) Biochemical and functional characterization of RNF213 (Mysterin) R4810K, a susceptibility mutation of Moyamoya disease, in angiogenesis in vitro and in vivo. J Am Heart Assoc 4(7). https:\/\/doi.org\/10.1161\/JAHA.115.002146","DOI":"10.1161\/JAHA.115.002146"},{"issue":"7","key":"609_CR22","doi-asserted-by":"publisher","first-page":"e22542","DOI":"10.1371\/journal.pone.0022542","volume":"6","author":"W Liu","year":"2011","unstructured":"Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim JE, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A (2011) Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 6(7):e22542. https:\/\/doi.org\/10.1371\/journal.pone.0022542","journal-title":"PLoS One"},{"issue":"2","key":"609_CR23","doi-asserted-by":"publisher","first-page":"65","DOI":"10.5853\/jos.2014.16.2.65","volume":"16","author":"M Fujimura","year":"2014","unstructured":"Fujimura M, Sonobe S, Nishijima Y, Niizuma K, Sakata H, Kure S, Tominaga T (2014) Genetics and biomarkers of moyamoya disease: significance of RNF213 as a susceptibility gene. J Stroke 16(2):65\u201372. https:\/\/doi.org\/10.5853\/jos.2014.16.2.65","journal-title":"J Stroke"},{"issue":"1","key":"609_CR24","doi-asserted-by":"publisher","first-page":"12","DOI":"10.5853\/jos.2015.01760","volume":"18","author":"OY Bang","year":"2016","unstructured":"Bang OY, Fujimura M, Kim SK (2016) The pathophysiology of moyamoya disease: an update. J Stroke 18(1):12\u201320. https:\/\/doi.org\/10.5853\/jos.2015.01760","journal-title":"J Stroke"},{"issue":"7","key":"609_CR25","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1038\/ncb3376","volume":"18","author":"RS Banh","year":"2016","unstructured":"Banh RS, Iorio C, Marcotte R, Xu Y, Cojocari D, Rahman AA, Pawling J, Zhang W, Sinha A, Rose CM, Isasa M, Zhang S, Wu R, Virtanen C, Hitomi T, Habu T, Sidhu SS, Koizumi A, Wilkins SE, Kislinger T, Gygi SP, Schofield CJ, Dennis JW, Wouters BG, Neel BG (2016) PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia. Nat Cell Biol 18(7):803\u2013813. https:\/\/doi.org\/10.1038\/ncb3376","journal-title":"Nat Cell Biol"},{"issue":"7196","key":"609_CR26","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1038\/nature06905","volume":"453","author":"J Rius","year":"2008","unstructured":"Rius J, Guma M, Schachtrup C, Akassoglou K, Zinkernagel AS, Nizet V, Johnson RS, Haddad GG, Karin M (2008) NF-kappaB links innate immunity to the hypoxic response through transcriptional regulation of HIF-1alpha. Nature 453(7196):807\u2013811. https:\/\/doi.org\/10.1038\/nature06905","journal-title":"Nature"},{"issue":"13","key":"609_CR27","doi-asserted-by":"publisher","first-page":"4532","DOI":"10.1128\/MCB.20.13.4532-4542.2000","volume":"20","author":"MC Bonnet","year":"2000","unstructured":"Bonnet MC, Weil R, Dam E, Hovanessian AG, Meurs EF (2000) PKR stimulates NF-\u03baB irrespective of its kinase function by interacting with the I\u03baB kinase complex. Mol Cell Biol 20(13):4532\u20134542","journal-title":"Mol Cell Biol"},{"issue":"247","key":"609_CR28","doi-asserted-by":"publisher","first-page":"pe47","DOI":"10.1126\/scisignal.2003511","volume":"5","author":"R Kang","year":"2012","unstructured":"Kang R, Tang D (2012) PKR-dependent inflammatory signals. Sci Signal 5(247):pe47. https:\/\/doi.org\/10.1126\/scisignal.2003511","journal-title":"Sci Signal"},{"key":"609_CR29","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/1752-0509-2-36","volume":"2","author":"S Raza","year":"2008","unstructured":"Raza S, Robertson KA, Lacaze PA, Page D, Enright AJ, Ghazal P, Freeman TC (2008) A logic-based diagram of signalling pathways central to macrophage activation. BMC Syst Biol 2:36. https:\/\/doi.org\/10.1186\/1752-0509-2-36","journal-title":"BMC Syst Biol"},{"issue":"1","key":"609_CR30","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1038\/jhg.2010.132","volume":"56","author":"F Kamada","year":"2011","unstructured":"Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S (2011) A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 56(1):34\u201340. https:\/\/doi.org\/10.1038\/jhg.2010.132","journal-title":"J Hum Genet"},{"issue":"4","key":"609_CR31","doi-asserted-by":"publisher","first-page":"e0175649","DOI":"10.1371\/journal.pone.0175649","volume":"12","author":"T Morimoto","year":"2017","unstructured":"Morimoto T, Mineharu Y, Ono K, Nakatochi M, Ichihara S, Kabata R, Takagi Y, Cao Y, Zhao L, Kobayashi H, Harada KH, Takenaka K, Funaki T, Yokota M, Matsubara T, Yamamoto K, Izawa H, Kimura T, Miyamoto S, Koizumi A (2017) Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease. PLoS One 12(4):e0175649. https:\/\/doi.org\/10.1371\/journal.pone.0175649","journal-title":"PLoS One"},{"issue":"3","key":"609_CR32","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1001\/archneur.1969.00480090076012","volume":"20","author":"J Suzuki","year":"1969","unstructured":"Suzuki J, Takaku A (1969) Cerebrovascular \u201cmoyamoya\u201d disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 20(3):288\u2013299","journal-title":"Arch Neurol"},{"issue":"6","key":"609_CR33","doi-asserted-by":"publisher","first-page":"E20","DOI":"10.3171\/2011.3.focus1151","volume":"30","author":"DG Weinberg","year":"2011","unstructured":"Weinberg DG, Arnaout OM, Rahme RJ, Aoun SG, Batjer HH, Bendok BR (2011) Moyamoya disease: a review of histopathology, biochemistry, and genetics. Neurosurg Focus 30(6):E20. https:\/\/doi.org\/10.3171\/2011.3.focus1151","journal-title":"Neurosurg Focus"},{"issue":"1","key":"609_CR34","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1542\/peds.109.1.116","volume":"109","author":"JK Lynch","year":"2002","unstructured":"Lynch JK, Hirtz DG, DeVeber G, Nelson KB (2002) Report of the National Institute of Neurological Disorders and Stroke Workshop on Perinatal and Childhood Stroke. PEDIATRICS 109(1):116\u2013123. https:\/\/doi.org\/10.1542\/peds.109.1.116","journal-title":"PEDIATRICS"},{"key":"609_CR35","doi-asserted-by":"publisher","first-page":"4442","DOI":"10.1038\/srep04442","volume":"4","author":"D Morito","year":"2014","unstructured":"Morito D, Nishikawa K, Hoseki J, Kitamura A, Kotani Y, Kiso K, Kinjo M, Fujiyoshi Y, Nagata K (2014) Moyamoya disease-associated protein mysterin\/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state. Sci Rep 4:4442. https:\/\/doi.org\/10.1038\/srep04442","journal-title":"Sci Rep"},{"issue":"1","key":"609_CR36","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.ajhg.2014.12.003","volume":"96","author":"KA Strauss","year":"2015","unstructured":"Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK (2015) CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. Am J Hum Genet 96(1):121\u2013135. https:\/\/doi.org\/10.1016\/j.ajhg.2014.12.003","journal-title":"Am J Hum Genet"},{"issue":"10","key":"609_CR37","doi-asserted-by":"publisher","first-page":"1743","DOI":"10.1093\/hmg\/ddy080","volume":"27","author":"B Peter","year":"2018","unstructured":"Peter B, Waddington CL, Olahova M, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN (2018) Defective mitochondrial protease LonP1 can cause classical mitochondrial disease. Hum Mol Genet 27(10):1743\u20131753. https:\/\/doi.org\/10.1093\/hmg\/ddy080","journal-title":"Hum Mol Genet"},{"issue":"2","key":"609_CR38","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1002\/jcb.21625","volume":"103","author":"JY Jeng","year":"2008","unstructured":"Jeng JY, Yeh TS, Lee JW, Lin SH, Fong TH, Hsieh RH (2008) Maintenance of mitochondrial DNA copy number and expression are essential for preservation of mitochondrial function and cell growth. J Cell Biochem 103(2):347\u2013357. https:\/\/doi.org\/10.1002\/jcb.21625","journal-title":"J Cell Biochem"},{"issue":"1\u20132","key":"609_CR39","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/j.ymgme.2016.07.001","volume":"119","author":"AR Stiles","year":"2016","unstructured":"Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE (2016) Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. Mol Genet Metab 119(1\u20132):91\u201399. https:\/\/doi.org\/10.1016\/j.ymgme.2016.07.001","journal-title":"Mol Genet Metab"},{"issue":"5","key":"609_CR40","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1002\/1873-3468.12894","volume":"592","author":"LP Coyne","year":"2018","unstructured":"Coyne LP, Chen XJ (2018) mPOS is a novel mitochondrial trigger of cell death - implications for neurodegeneration. FEBS Lett 592(5):759\u2013775. https:\/\/doi.org\/10.1002\/1873-3468.12894","journal-title":"FEBS Lett"},{"issue":"1","key":"609_CR41","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/cr.2013.168","volume":"24","author":"Y Feng","year":"2014","unstructured":"Feng Y, He D, Yao Z, Klionsky DJ (2014) The machinery of macroautophagy. Cell Res 24(1):24\u201341. https:\/\/doi.org\/10.1038\/cr.2013.168","journal-title":"Cell Res"},{"issue":"7548","key":"609_CR42","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1038\/nature14156","volume":"520","author":"AP West","year":"2015","unstructured":"West AP, Khoury-Hanold W, Staron M, Tal MC, Pineda CM, Lang SM, Bestwick M, Duguay BA, Raimundo N, MacDuff DA, Kaech SM, Smiley JR, Means RE, Iwasaki A, Shadel GS (2015) Mitochondrial DNA stress primes the antiviral innate immune response. Nature 520(7548):553\u2013557. https:\/\/doi.org\/10.1038\/nature14156","journal-title":"Nature"},{"key":"609_CR43","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.mito.2017.10.007","volume":"41","author":"A Rongvaux","year":"2018","unstructured":"Rongvaux A (2018) Innate immunity and tolerance toward mitochondria. Mitochondrion 41:14\u201320. https:\/\/doi.org\/10.1016\/j.mito.2017.10.007","journal-title":"Mitochondrion"},{"issue":"1","key":"609_CR44","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1007\/s10048-011-0303-8","volume":"13","author":"M Klinkenberg","year":"2012","unstructured":"Klinkenberg M, Gispert S, Dominguez-Bautista JA, Braun I, Auburger G, Jendrach M (2012) Restriction of trophic factors and nutrients induces PARKIN expression. Neurogenetics 13(1):9\u201321. https:\/\/doi.org\/10.1007\/s10048-011-0303-8","journal-title":"Neurogenetics"},{"issue":"9\u201310","key":"609_CR45","doi-asserted-by":"publisher","first-page":"1080","DOI":"10.1016\/j.bbagrm.2011.11.008","volume":"1819","author":"Y Matsushima","year":"2012","unstructured":"Matsushima Y, Kaguni LS (2012) Matrix proteases in mitochondrial DNA function. Biochim Biophys Acta 1819(9\u201310):1080\u20131087. https:\/\/doi.org\/10.1016\/j.bbagrm.2011.11.008","journal-title":"Biochim Biophys Acta"},{"issue":"2","key":"609_CR46","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1016\/j.celrep.2014.06.018","volume":"8","author":"PM Quiros","year":"2014","unstructured":"Quiros PM, Espanol Y, Acin-Perez R, Rodriguez F, Barcena C, Watanabe K, Calvo E, Loureiro M, Fernandez-Garcia MS, Fueyo A, Vazquez J, Enriquez JA, Lopez-Otin C (2014) ATP-dependent Lon protease controls tumor bioenergetics by reprogramming mitochondrial activity. Cell Rep 8(2):542\u2013556. https:\/\/doi.org\/10.1016\/j.celrep.2014.06.018","journal-title":"Cell Rep"},{"issue":"3","key":"609_CR47","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1038\/ng0398-231","volume":"18","author":"NG Larsson","year":"1998","unstructured":"Larsson NG, Wang J, Wilhelmsson H, Oldfors A, Rustin P, Lewandoski M, Barsh GS, Clayton DA (1998) Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet 18(3):231\u2013236. https:\/\/doi.org\/10.1038\/ng0398-231","journal-title":"Nat Genet"},{"issue":"9","key":"609_CR48","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1016\/j.tig.2018.05.009","volume":"34","author":"G Barshad","year":"2018","unstructured":"Barshad G, Marom S, Cohen T, Mishmar D (2018) Mitochondrial DNA transcription and its regulation: an evolutionary perspective. Trends Genet 34(9):682\u2013692. https:\/\/doi.org\/10.1016\/j.tig.2018.05.009","journal-title":"Trends Genet"},{"key":"609_CR49","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1016\/j.brainres.2014.01.011","volume":"1552","author":"S Sonobe","year":"2014","unstructured":"Sonobe S, Fujimura M, Niizuma K, Nishijima Y, Ito A, Shimizu H, Kikuchi A, Arai-Ichinoi N, Kure S, Tominaga T (2014) Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: a susceptibility gene for moyamoya disease. Brain Res 1552:64\u201371. https:\/\/doi.org\/10.1016\/j.brainres.2014.01.011","journal-title":"Brain Res"},{"key":"609_CR50","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1016\/j.brainres.2015.07.039","volume":"1624","author":"A Kanoke","year":"2015","unstructured":"Kanoke A, Fujimura M, Niizuma K, Ito A, Sakata H, Sato-Maeda M, Morita-Fujimura Y, Kure S, Tominaga T (2015) Temporal profile of the vascular anatomy evaluated by 9.4-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213, the susceptibility gene for moyamoya disease. Brain Res 1624:497\u2013505. https:\/\/doi.org\/10.1016\/j.brainres.2015.07.039","journal-title":"Brain Res"},{"issue":"6472","key":"609_CR51","doi-asserted-by":"publisher","first-page":"1531","DOI":"10.1126\/science.aav4011","volume":"366","author":"J Kim","year":"2019","unstructured":"Kim J, Gupta R, Blanco LP, Yang S, Shteinfer-Kuzmine A, Wang K, Zhu J, Yoon HE, Wang X, Kerkhofs M, Kang H, Brown AL, Park SJ, Xu X, Zandee van Rilland E, Kim MK, Cohen JI, Kaplan MJ, Shoshan-Barmatz V, Chung JH (2019) VDAC oligomers form mitochondrial pores to release mtDNA fragments and promote lupus-like disease. Science 366(6472):1531\u20131536. https:\/\/doi.org\/10.1126\/science.aav4011","journal-title":"Science"},{"issue":"6","key":"609_CR52","doi-asserted-by":"publisher","first-page":"e1005012","DOI":"10.1371\/journal.ppat.1005012","volume":"11","author":"Y Wang","year":"2015","unstructured":"Wang Y, Lian Q, Yang B, Yan S, Zhou H, He L, Lin G, Lian Z, Jiang Z, Sun B (2015) TRIM30alpha is a negative-feedback regulator of the intracellular DNA and DNA virus-triggered response by targeting STING. PLoS Pathog 11(6):e1005012. https:\/\/doi.org\/10.1371\/journal.ppat.1005012","journal-title":"PLoS Pathog"},{"key":"609_CR53","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.virol.2015.02.046","volume":"481","author":"D Power","year":"2015","unstructured":"Power D, Santoso N, Dieringer M, Yu J, Huang H, Simpson S, Seth I, Miao H, Zhu J (2015) IFI44 suppresses HIV-1 LTR promoter activity and facilitates its latency. Virology 481:142\u2013150. https:\/\/doi.org\/10.1016\/j.virol.2015.02.046","journal-title":"Virology"},{"issue":"21","key":"609_CR54","doi-asserted-by":"publisher","first-page":"11548","DOI":"10.1128\/JVI.01773-12","volume":"86","author":"C Carlton-Smith","year":"2012","unstructured":"Carlton-Smith C, Elliott RM (2012) Viperin, MTAP44, and protein kinase R contribute to the interferon-induced inhibition of Bunyamwera Orthobunyavirus replication. J Virol 86(21):11548\u201311557. https:\/\/doi.org\/10.1128\/JVI.01773-12","journal-title":"J Virol"},{"key":"609_CR55","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1186\/s12977-014-0126-4","volume":"11","author":"K Gibbert","year":"2014","unstructured":"Gibbert K, Francois S, Sigmund AM, Harper MS, Barrett BS, Kirchning CJ, Lu M, Santiago ML, Dittmer U (2014) Friend retrovirus drives cytotoxic effectors through toll-like receptor 3. Retrovirology 11:126. https:\/\/doi.org\/10.1186\/s12977-014-0126-4","journal-title":"Retrovirology"},{"issue":"8","key":"609_CR56","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1089\/jir.2007.0021","volume":"27","author":"LC Hallen","year":"2007","unstructured":"Hallen LC, Burki Y, Ebeling M, Broger C, Siegrist F, Oroszlan-Szovik K, Bohrmann B, Certa U, Foser S (2007) Antiproliferative activity of the human IFN-alpha-inducible protein IFI44. J Interf Cytokine Res 27(8):675\u2013680. https:\/\/doi.org\/10.1089\/jir.2007.0021","journal-title":"J Interf Cytokine Res"},{"key":"609_CR57","doi-asserted-by":"publisher","first-page":"1880","DOI":"10.3389\/fimmu.2019.01880","volume":"10","author":"E Carnero-Montoro","year":"2019","unstructured":"Carnero-Montoro E, Barturen G, Povedano E, Kerick M, Martinez-Bueno M, Consortium PC, Ballestar E, Martin J, Teruel M, Alarcon-Riquelme ME (2019) Epigenome-wide comparative study reveals Key differences between mixed connective tissue disease and related systemic autoimmune diseases. Front Immunol 10:1880. https:\/\/doi.org\/10.3389\/fimmu.2019.01880","journal-title":"Front Immunol"},{"issue":"1","key":"609_CR58","doi-asserted-by":"publisher","first-page":"e000183","DOI":"10.1136\/lupus-2016-000183","volume":"3","author":"A Mok","year":"2016","unstructured":"Mok A, Solomon O, Nayak RR, Coit P, Quach HL, Nititham J, Sawalha AH, Barcellos LF, Criswell LA, Chung SA (2016) Genome-wide profiling identifies associations between lupus nephritis and differential methylation of genes regulating tissue hypoxia and type 1 interferon responses. Lupus Sci Med 3(1):e000183. https:\/\/doi.org\/10.1136\/lupus-2016-000183","journal-title":"Lupus Sci Med"},{"key":"609_CR59","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.jaut.2015.05.003","volume":"61","author":"P Coit","year":"2015","unstructured":"Coit P, Renauer P, Jeffries MA, Merrill JT, McCune WJ, Maksimowicz-McKinnon K, Sawalha AH (2015) Renal involvement in lupus is characterized by unique DNA methylation changes in naive CD4+ T cells. J Autoimmun 61:29\u201335. https:\/\/doi.org\/10.1016\/j.jaut.2015.05.003","journal-title":"J Autoimmun"},{"issue":"11","key":"609_CR60","doi-asserted-by":"publisher","first-page":"1807","DOI":"10.1002\/art.40559","volume":"70","author":"J An","year":"2018","unstructured":"An J, Woodward JJ, Lai W, Minie M, Sun X, Tanaka L, Snyder JM, Sasaki T, Elkon KB (2018) Inhibition of cyclic GMP-AMP synthase using a novel antimalarial drug derivative in Trex1-deficient mice. Arthritis Rheum 70(11):1807\u20131819. https:\/\/doi.org\/10.1002\/art.40559","journal-title":"Arthritis Rheum"},{"issue":"5","key":"609_CR61","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1002\/art.40805","volume":"71","author":"K Meesilpavikkai","year":"2019","unstructured":"Meesilpavikkai K, Dik WA, Schrijver B, van Helden-Meeuwsen CG, Versnel MA, van Hagen PM, Bijlsma EK, Ruivenkamp CAL, Oele MJ, Dalm V (2019) Efficacy of baricitinib in the treatment of chilblains associated with Aicardi-Goutieres syndrome, a type I interferonopathy. Arthritis Rheum 71(5):829\u2013831. https:\/\/doi.org\/10.1002\/art.40805","journal-title":"Arthritis Rheum"},{"issue":"6","key":"609_CR62","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1016\/j.placenta.2015.03.002","volume":"36","author":"B Wang","year":"2015","unstructured":"Wang B, Fang Y, Wu Y, Koga K, Osuga Y, Lv S, Chen D, Zhu Y, Wang J, Huang H (2015) Viperin is induced following toll-like receptor 3 (TLR3) ligation and has a virus-responsive function in human trophoblast cells. Placenta 36(6):667\u2013673. https:\/\/doi.org\/10.1016\/j.placenta.2015.03.002","journal-title":"Placenta"},{"issue":"2","key":"609_CR63","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.cytogfr.2011.02.001","volume":"22","author":"M Yu","year":"2011","unstructured":"Yu M, Levine SJ (2011) Toll-like receptor, RIG-I-like receptors and the NLRP3 inflammasome: key modulators of innate immune responses to double-stranded RNA viruses. Cytokine Growth Factor Rev 22(2):63\u201372. https:\/\/doi.org\/10.1016\/j.cytogfr.2011.02.001","journal-title":"Cytokine Growth Factor Rev"},{"issue":"3","key":"609_CR64","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/j.bbrc.2013.02.015","volume":"432","author":"H Kobayashi","year":"2013","unstructured":"Kobayashi H, Yamazaki S, Takashima S, Liu W, Okuda H, Yan J, Fujii Y, Hitomi T, Harada KH, Habu T, Koizumi A (2013) Ablation of Rnf213 retards progression of diabetes in the Akita mouse. Biochem Biophys Res Commun 432(3):519\u2013525. https:\/\/doi.org\/10.1016\/j.bbrc.2013.02.015","journal-title":"Biochem Biophys Res Commun"},{"issue":"18","key":"609_CR65","doi-asserted-by":"publisher","first-page":"1442","DOI":"10.1097\/WNR.0000000000000289","volume":"25","author":"S Sonobe","year":"2014","unstructured":"Sonobe S, Fujimura M, Niizuma K, Fujimura T, Furudate S, Nishijima Y, Kure S, Tominaga T (2014) Increased vascular MMP-9 in mice lacking RNF213: moyamoya disease susceptibility gene. Neuroreport 25(18):1442\u20131446. https:\/\/doi.org\/10.1097\/WNR.0000000000000289","journal-title":"Neuroreport"},{"key":"609_CR66","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1016\/j.brainres.2014.11.014","volume":"1594","author":"A Ito","year":"2015","unstructured":"Ito A, Fujimura M, Niizuma K, Kanoke A, Sakata H, Morita-Fujimura Y, Kikuchi A, Kure S, Tominaga T (2015) Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease. Brain Res 1594:310\u2013320. https:\/\/doi.org\/10.1016\/j.brainres.2014.11.014","journal-title":"Brain Res"},{"key":"609_CR67","doi-asserted-by":"publisher","first-page":"3607","DOI":"10.1038\/s41598-018-22064-8","volume":"8","author":"T Morimoto","year":"2018","unstructured":"Morimoto T, J-i E, Hattori Y, Iguchi S, Saito S, Harada KH, Okuda H, Mineharu Y, Takagi Y, Youssefian S, Iida H, Miyamoto S, Ihara M, Kobayashi H, Koizumi A (2018) Dysregulation of RNF213 promotes cerebral hypoperfusion. Sci Rep 8:3607. https:\/\/doi.org\/10.1038\/s41598-018-22064-8","journal-title":"Sci Rep"},{"key":"609_CR68","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.brainres.2017.11.013","volume":"1679","author":"M Fujimura","year":"2018","unstructured":"Fujimura M, Fujimura T, Kakizaki A, Sato-Maeda M, Niizuma K, Tomata Y, Aiba S, Tominaga T (2018) Increased serum production of soluble CD163 and CXCL5 in patients with moyamoya disease: involvement of intrinsic immune reaction in its pathogenesis. Brain Res 1679:39\u201344. https:\/\/doi.org\/10.1016\/j.brainres.2017.11.013","journal-title":"Brain Res"},{"issue":"3","key":"609_CR69","doi-asserted-by":"publisher","first-page":"365","DOI":"10.5603\/fhc.2011.0052","volume":"49","author":"K Kowal","year":"2011","unstructured":"Kowal K, Silver R, Slawinska E, Bielecki M, Chyczewski L, Kowal-Bielecka O (2011) CD163 and its role in inflammation. Folia Histochem Cytobiol 49(3):365\u2013374. https:\/\/doi.org\/10.5603\/fhc.2011.0052","journal-title":"Folia Histochem Cytobiol"},{"issue":"7","key":"609_CR70","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0068218","volume":"8","author":"F Allantaz-Frager","year":"2013","unstructured":"Allantaz-Frager F, Turrel-Davin F, Venet F, Monnin C, De Saint JA, Barbalat V, Cerrato E, Pachot A, Lepape A, Monneret G (2013) Identification of biomarkers of response to IFNg during endotoxin tolerance: application to septic shock. PLoS One 8(7):e68218. https:\/\/doi.org\/10.1371\/journal.pone.0068218","journal-title":"PLoS One"},{"issue":"1","key":"609_CR71","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1161\/STROKEAHA.117.017430","volume":"49","author":"L Duan","year":"2018","unstructured":"Duan L, Wei L, Tian Y, Zhang Z, Hu P, Wei Q, Liu S, Zhang J, Wang Y, Li D, Yang W, Zong R, Xian P, Han C, Bao X, Zhao F, Feng J, Liu W, Cao W, Zhou G, Zhu C, Yu F, Meng Y, Wang J, Chen X, Shen B, Zhao B, Wan J, Zhang F, Zhao G, Xu A, Zhang X, Liu J, Zuo X, Wang K (2018) Novel susceptibility loci for moyamoya disease revealed by a genome-wide association study. Stroke 49(1):11\u201318. https:\/\/doi.org\/10.1161\/STROKEAHA.117.017430","journal-title":"Stroke"},{"issue":"5","key":"609_CR72","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.3171\/2017.5.JNS17147","volume":"129","author":"JW Choi","year":"2018","unstructured":"Choi JW, Son SM, Mook-Jung I, Moon YJ, Lee JY, Wang KC, Kang HS, Phi JH, Choi SA, Chong S, Byun J, Kim SK (2018) Mitochondrial abnormalities related to the dysfunction of circulating endothelial colony-forming cells in moyamoya disease. J Neurosurg 129(5):1151\u20131159. https:\/\/doi.org\/10.3171\/2017.5.JNS17147","journal-title":"J Neurosurg"},{"issue":"6","key":"609_CR73","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1016\/j.dnarep.2008.01.017","volume":"7","author":"PJ Brooks","year":"2008","unstructured":"Brooks PJ, Cheng TF, Cooper L (2008) Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage? DNA Repair (Amst) 7(6):834\u2013848. https:\/\/doi.org\/10.1016\/j.dnarep.2008.01.017","journal-title":"DNA Repair (Amst)"},{"issue":"5","key":"609_CR74","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1111\/j.1399-0004.2011.01825.x","volume":"81","author":"C Chahwan","year":"2012","unstructured":"Chahwan C, Chahwan R (2012) Aicardi-Goutieres syndrome: from patients to genes and beyond. Clin Genet 81(5):413\u2013420. https:\/\/doi.org\/10.1111\/j.1399-0004.2011.01825.x","journal-title":"Clin Genet"},{"issue":"3","key":"609_CR75","doi-asserted-by":"publisher","first-page":"155","DOI":"10.30637\/2018.16-030","volume":"39","author":"S Barrit","year":"2018","unstructured":"Barrit S (2018) An Aicardi-Goutieres syndrome associated with a quasi-Moyamoya by a biallelic mutation in SAMHD1. Rev Med Brux 39(3):155\u2013160. https:\/\/doi.org\/10.30637\/2018.16-030","journal-title":"Rev Med Brux"},{"issue":"5","key":"609_CR76","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1089\/jir.2016.0086","volume":"37","author":"N Yan","year":"2017","unstructured":"Yan N (2017) Immune diseases associated with TREX1 and STING dysfunction. J Interf Cytokine Res 37(5):198\u2013206. https:\/\/doi.org\/10.1089\/jir.2016.0086","journal-title":"J Interf Cytokine Res"},{"issue":"12","key":"609_CR77","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1007\/s11926-016-0621-9","volume":"18","author":"MS Lo","year":"2016","unstructured":"Lo MS (2016) Monogenic Lupus. Monogenic Lupus Curr Rheumatol Rep 18(12):71. https:\/\/doi.org\/10.1007\/s11926-016-0621-9","journal-title":"Monogenic Lupus Curr Rheumatol Rep"},{"issue":"6","key":"609_CR78","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1177\/0961203313485828","volume":"22","author":"R Wang","year":"2013","unstructured":"Wang R, Xu Y, Lv R, Chen J (2013) Systemic lupus erythematosus associated with Moyamoya syndrome: a case report and literature review. Lupus 22(6):629\u2013633. https:\/\/doi.org\/10.1177\/0961203313485828","journal-title":"Lupus"},{"key":"609_CR79","doi-asserted-by":"publisher","first-page":"1026","DOI":"10.3389\/fimmu.2019.01026","volume":"10","author":"Y Becker","year":"2019","unstructured":"Becker Y, Marcoux G, Allaeys I, Julien AS, Loignon RC, Benk-Fortin H, Rollet-Labelle E, Rauch J, Fortin PR, Boilard E (2019) Autoantibodies in systemic lupus erythematosus target mitochondrial RNA. Front Immunol 10:1026. https:\/\/doi.org\/10.3389\/fimmu.2019.01026","journal-title":"Front Immunol"},{"issue":"2","key":"609_CR80","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1007\/s12199-015-0498-7","volume":"21","author":"A Koizumi","year":"2016","unstructured":"Koizumi A, Kobayashi H, Hitomi T, Harada KH, Habu T, Youssefian S (2016) A new horizon of moyamoya disease and associated health risks explored through RNF213. Environ Health Prev Med 21(2):55\u201370. https:\/\/doi.org\/10.1007\/s12199-015-0498-7","journal-title":"Environ Health Prev Med"},{"issue":"3","key":"609_CR81","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1016\/j.jiac.2017.10.012","volume":"24","author":"J Yamanaka","year":"2018","unstructured":"Yamanaka J, Nozaki I, Tanaka M, Uryuu H, Sato N, Matsushita T, Shichino H (2018) Moyamoya syndrome in a pediatric patient with congenital human immunodeficiency virus type 1 infection resulting in intracranial hemorrhage. J Infect Chemother 24(3):220\u2013223. https:\/\/doi.org\/10.1016\/j.jiac.2017.10.012","journal-title":"J Infect Chemother"},{"issue":"4","key":"609_CR82","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1177\/088307389901400412","volume":"14","author":"GY Hsiung","year":"1999","unstructured":"Hsiung GY, Sotero de Menezes M (1999) Moyamoya syndrome in a patient with congenital human immunodeficiency virus infection. J Child Neurol 14(4):268\u2013270. https:\/\/doi.org\/10.1177\/088307389901400412","journal-title":"J Child Neurol"},{"issue":"2","key":"609_CR83","doi-asserted-by":"publisher","first-page":"a009332","DOI":"10.1101\/cshperspect.a009332","volume":"2","author":"C Perier","year":"2012","unstructured":"Perier C, Vila M (2012) Mitochondrial biology and Parkinson's disease. Cold Spring Harb Perspect Med 2(2):a009332. https:\/\/doi.org\/10.1101\/cshperspect.a009332","journal-title":"Cold Spring Harb Perspect Med"},{"issue":"6676","key":"609_CR84","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1038\/33416","volume":"392","author":"T Kitada","year":"1998","unstructured":"Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392(6676):605\u2013608. https:\/\/doi.org\/10.1038\/33416","journal-title":"Nature"},{"issue":"5674","key":"609_CR85","doi-asserted-by":"publisher","first-page":"1158","DOI":"10.1126\/science.1096284","volume":"304","author":"EM Valente","year":"2004","unstructured":"Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW (2004) Hereditary early-onset Parkinson\u2019s disease caused by mutations in PINK1. Science 304(5674):1158\u20131160. https:\/\/doi.org\/10.1126\/science.1096284","journal-title":"Science"},{"issue":"3","key":"609_CR86","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1038\/s41419-017-0215-0","volume":"9","author":"E Area-Gomez","year":"2018","unstructured":"Area-Gomez E, de Groof A, Bonilla E, Montesinos J, Tanji K, Boldogh I, Pon L, Schon EA (2018) A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease. Cell Death Dis 9(3):335. https:\/\/doi.org\/10.1038\/s41419-017-0215-0","journal-title":"Cell Death Dis"},{"issue":"1","key":"609_CR87","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s40142-018-0132-2","volume":"6","author":"PG Ridge","year":"2018","unstructured":"Ridge PG, Kauwe JSK (2018) Mitochondria and Alzheimer\u2019s disease: the role of mitochondrial genetic variation. Curr Genet Med Rep 6(1):1\u201310. https:\/\/doi.org\/10.1007\/s40142-018-0132-2","journal-title":"Curr Genet Med Rep"},{"issue":"1","key":"609_CR88","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1186\/s12974-017-0928-0","volume":"14","author":"S Torres-Odio","year":"2017","unstructured":"Torres-Odio S, Key J, Hoepken HH, Canet-Pons J, Valek L, Roller B, Walter M, Morales-Gordo B, Meierhofer D, Harter PN, Mittelbronn M, Tegeder I, Gispert S, Auburger G (2017) Progression of pathology in PINK1-deficient mouse brain from splicing via ubiquitination, ER stress, and mitophagy changes to neuroinflammation. J Neuroinflammation 14(1):154. https:\/\/doi.org\/10.1186\/s12974-017-0928-0","journal-title":"J Neuroinflammation"},{"key":"609_CR89","doi-asserted-by":"publisher","first-page":"4784268","DOI":"10.1155\/2018\/4784268","volume":"2018","author":"G Gelders","year":"2018","unstructured":"Gelders G, Baekelandt V, Van der Perren A (2018) Linking neuroinflammation and neurodegeneration in Parkinson\u2019s disease. J Immunol Res 2018:4784268\u20134784212. https:\/\/doi.org\/10.1155\/2018\/4784268","journal-title":"J Immunol Res"},{"issue":"7722","key":"609_CR90","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1038\/s41586-018-0448-9","volume":"561","author":"DA Sliter","year":"2018","unstructured":"Sliter DA, Martinez J, Hao L, Chen X, Sun N, Fischer TD, Burman JL, Li Y, Zhang Z, Narendra DP, Cai H, Borsche M, Klein C, Youle RJ (2018) Parkin and PINK1 mitigate STING-induced inflammation. Nature 561(7722):258\u2013262. https:\/\/doi.org\/10.1038\/s41586-018-0448-9","journal-title":"Nature"},{"issue":"6","key":"609_CR91","doi-asserted-by":"publisher","first-page":"1477","DOI":"10.1016\/j.cell.2018.07.041","volume":"174","author":"D Xu","year":"2018","unstructured":"Xu D, Jin T, Zhu H, Chen H, Ofengeim D, Zou C, Mifflin L, Pan L, Amin P, Li W, Shan B, Naito MG, Meng H, Li Y, Pan H, Aron L, Adiconis X, Levin JZ, Yankner BA, Yuan J (2018) TBK1 suppresses RIPK1-driven apoptosis and inflammation during development and in aging. Cell 174(6):1477\u20131491 e1419. https:\/\/doi.org\/10.1016\/j.cell.2018.07.041","journal-title":"Cell"},{"key":"609_CR92","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1016\/j.nbd.2016.09.010","volume":"96","author":"C Altmann","year":"2016","unstructured":"Altmann C, Hardt S, Fischer C, Heidler J, Lim HY, Haussler A, Albuquerque B, Zimmer B, Moser C, Behrends C, Koentgen F, Wittig I, Schmidt MHH, Clement AM, Deller T, Tegeder I (2016) Progranulin overexpression in sensory neurons attenuates neuropathic pain in mice: role of autophagy. Neurobiol Dis 96:294\u2013311. https:\/\/doi.org\/10.1016\/j.nbd.2016.09.010","journal-title":"Neurobiol Dis"},{"issue":"6","key":"609_CR93","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1038\/nprot.2008.73","volume":"3","author":"TD Schmittgen","year":"2008","unstructured":"Schmittgen TD, Livak KJ (2008) Analyzing real-time PCR data by the comparative C(T) method. Nat Protoc 3(6):1101\u20131108","journal-title":"Nat Protoc"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-020-00609-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-020-00609-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-020-00609-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T00:14:37Z","timestamp":1619568877000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-020-00609-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,28]]},"references-count":93,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["609"],"URL":"https:\/\/doi.org\/10.1007\/s10048-020-00609-2","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,28]]},"assertion":[{"value":"19 February 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 March 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 April 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}