{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,22]],"date-time":"2025-03-22T11:38:19Z","timestamp":1742643499663},"reference-count":30,"publisher":"Biomedical Research Press","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomed. Res."],"published-print":{"date-parts":[[2021,8,12]]},"DOI":"10.2220\/biomedres.42.129","type":"journal-article","created":{"date-parts":[[2021,8,11]],"date-time":"2021-08-11T22:07:46Z","timestamp":1628719666000},"page":"129-138","source":"Crossref","is-referenced-by-count":5,"title":["CLN6\u2019s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses"],"prefix":"10.2220","volume":"42","author":[{"given":"Yuki","family":"SHIRO","sequence":"first","affiliation":[{"name":"Department of Molecular Cell Biology and Medicine, Graduate School of Biomedical Sciences, Tokushima University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arisa","family":"YAMASHITA","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology and Medicine, Graduate School of Biomedical Sciences, Tokushima University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kana","family":"WATANABE","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology and Medicine, Graduate School of Biomedical Sciences, Tokushima University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuo","family":"YAMAZAKI","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology and Medicine, Graduate School of Biomedical Sciences, Tokushima University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1059","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"Alroy J, Braulke T, Cismondi IA, Cooper JD, Creegan D, <i>et al.<\/i> (2011) CLN6. in <i>Neuronal Ceroid Lipofuscinoses (Batten Disease)<\/i> (ed. by Mole SE <i>et al.<\/i>) pp159\u2013175, Oxford University Press.","DOI":"10.1093\/med\/9780199590018.003.0010"},{"key":"2","doi-asserted-by":"crossref","unstructured":"Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, <i>et al.<\/i> (2011) Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in cln6. <i>Am J Hum Genet <\/i><b>88<\/b>, 566\u2013573.","DOI":"10.1016\/j.ajhg.2011.04.004"},{"key":"3","doi-asserted-by":"crossref","unstructured":"Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, <i>et al.<\/i> (2020) A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. <i>J Clin Invest <\/i><b>140<\/b>, 4118\u20134132.","DOI":"10.1172\/JCI130955"},{"key":"4","doi-asserted-by":"crossref","unstructured":"Bronson RT, Donahue LR, Johnson KR, Tanner A, Lane PW, <i>et al.<\/i> (1998) Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. <i>Am J Med <\/i><i>Genet <\/i><b>77<\/b>, 289\u2013297.","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<289::AID-AJMG8>3.0.CO;2-I"},{"key":"5","doi-asserted-by":"crossref","unstructured":"Butz ES, Chandrachud U, Mole SE and Cotman SL (2020) Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. <i>Biochim Biophys Acta<\/i> \u2013 <i>Mol Basis Dis <\/i><b>1866<\/b>, 165571.","DOI":"10.1016\/j.bbadis.2019.165571"},{"key":"6","doi-asserted-by":"crossref","unstructured":"Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, <i>et al.<\/i> (2009) Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. <i>Biochem Biophys Res Commun <\/i><b>379<\/b>, 892\u2013897.","DOI":"10.1016\/j.bbrc.2008.12.159"},{"key":"7","doi-asserted-by":"crossref","unstructured":"C\u00e1rcel-Trullols J, Kov\u00e1cs AD and Pearce DA (2015) Cell biology of the NCL proteins: What they do and don\u2019t do. <i>Biochim Biophys Acta<\/i> \u2013 <i>Mol Basis Dis <\/i><b>1852<\/b>, 2242\u20132255.","DOI":"10.1016\/j.bbadis.2015.04.027"},{"key":"8","doi-asserted-by":"crossref","unstructured":"Chin JJ, Behnam B, Davids M, Sharma P, Zein WM, <i>et al.<\/i> (2019) Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. <i>Mol Genet Metab <\/i><b>126<\/b>, 188\u2013195.","DOI":"10.1016\/j.ymgme.2018.12.001"},{"key":"9","doi-asserted-by":"crossref","unstructured":"DeTar DLF and Luthra NP (1977) Conformations of Proline. <i>J Am Chem Soc <\/i><b>99<\/b>, 1232\u20131244.","DOI":"10.1021\/ja00446a040"},{"key":"10","doi-asserted-by":"crossref","unstructured":"Gao H, Boustany RMN, Espinola JA, Cotman SL, Srinidhi L, <i>et al.<\/i> (2002) Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. <i>Am J Hum Genet <\/i><b>70<\/b>, 324\u2013335.","DOI":"10.1086\/338190"},{"key":"11","doi-asserted-by":"crossref","unstructured":"Heine C, Quitsch A, Storch S, Martin Y, Lonka L, <i>et al.<\/i> (2007) Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. <i>Mol Membr Biol <\/i><b>24<\/b>, 74\u201387.","DOI":"10.1080\/09687860600967317"},{"key":"12","doi-asserted-by":"crossref","unstructured":"Jing PI, Dogovski C and Pittard AJ (1998) Functional consequences of changing proline residues in the phenylalanine-specific permease of Escherichia coli. <i>J Bacteriol <\/i><b>180<\/b>, 5515\u20135519.","DOI":"10.1128\/JB.180.21.5515-5519.1998"},{"key":"13","doi-asserted-by":"crossref","unstructured":"Katz ML, Buckley RM, Biegen V, O\u2019Brien DP, Johnson GC, <i>et al.<\/i> (2020) Neuronal ceroid lipofuscinosis in a domestic cat associated with a DNA sequence variant that creates a premature stop codon in CLN6. <i>G3 Genes, Genomes, Genet <\/i><b>10<\/b>, 2741-2751.","DOI":"10.1534\/g3.120.401407"},{"key":"14","doi-asserted-by":"crossref","unstructured":"Kollmann K, Uusi-Rauva K, Scifo E, Tyynel\u00e4 J, Jalanko A, <i>et al.<\/i> (2013) Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. <i>Biochim Biophys Acta<\/i> \u2013 <i>Mol <\/i><i>Basis <\/i><i>Dis <\/i><b>1832<\/b>, 1866\u20131881.","DOI":"10.1016\/j.bbadis.2013.01.019"},{"key":"15","doi-asserted-by":"crossref","unstructured":"Kousi M, Lehesjoki AE and Mole SE (2012) Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. <i>Hum Mutat <\/i><b>33<\/b>, 42\u201363.","DOI":"10.1002\/humu.21624"},{"key":"16","doi-asserted-by":"crossref","unstructured":"Kurze AK, Galliciotti G, Heine C, Mole SE, Quitsch A, <i>et al.<\/i> (2010) Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. <i>Hum Mutat <\/i><b>31<\/b>, E1163\u20131174.","DOI":"10.1002\/humu.21184"},{"key":"17","doi-asserted-by":"crossref","unstructured":"Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, <i>et al.<\/i> (2019) Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. <i>Lancet Neurol <\/i><b>18<\/b>, 107\u2013116.","DOI":"10.1016\/S1474-4422(18)30368-5"},{"key":"18","doi-asserted-by":"crossref","unstructured":"Mole SE, Michaux G, Codlin S, Wheeler RB, Sharp JD, <i>et al.<\/i> (2004) CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. <i>Exp Cell Res <\/i><b>298<\/b>, 399\u2013406.","DOI":"10.1016\/j.yexcr.2004.04.042"},{"key":"19","doi-asserted-by":"crossref","unstructured":"Nelvagal HR, Lange J, Takahashi K, Tarczyluk-Wells MA and Cooper JD (2020) Pathomechanisms in the neuronal ceroid lipofuscinoses. <i>Biochim Biophys Acta<\/i> \u2013 <i>Mol Basis Dis <\/i><b>1866<\/b>, 165570.","DOI":"10.1016\/j.bbadis.2019.165570"},{"key":"20","doi-asserted-by":"crossref","unstructured":"Newbold RJ, Deery EC, Walker CE, Wilkie SE, Srinivasan N, <i>et al.<\/i> (2001) The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy. <i>Hum <\/i><i>Mol Genet <\/i><b>10<\/b>, 47\u201354.","DOI":"10.1093\/hmg\/10.1.47"},{"key":"21","doi-asserted-by":"crossref","unstructured":"Palmer DN, Barry LA, Tyynel\u00e4 J and Cooper JD (2013) NCL disease mechanisms. <i>Biochim Biophys Acta<\/i> \u2013 <i>Mol Basis Dis <\/i><b>1832<\/b>, 1882\u20131893.","DOI":"10.1016\/j.bbadis.2013.05.014"},{"key":"22","doi-asserted-by":"crossref","unstructured":"Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, <i>et al.<\/i> (2003) Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. <i>Hum Mutat <\/i><b>22<\/b>, 35\u201342.","DOI":"10.1002\/humu.10227"},{"key":"23","doi-asserted-by":"crossref","unstructured":"Sun G, Yao F, Tian Z, Ma T and Yang Z (2018) A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: A case report. <i>BMC Med Genet <\/i><b>19<\/b>, 177.","DOI":"10.1186\/s12881-018-0690-x"},{"key":"24","doi-asserted-by":"crossref","unstructured":"Teixeira CA, Espinola J, Huo L, Kohlsch\u00fctter J, Sawin DAP, <i>et al.<\/i> (2003) Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. <i>Hum <\/i><i>Mutat <\/i><b>21<\/b>, 502\u2013508.","DOI":"10.1002\/humu.10207"},{"key":"25","doi-asserted-by":"crossref","unstructured":"Vicart P, Caron A, Guicheney P, Li Z, Pr\u00e9vost MC, <i>et al.<\/i> (1998) A missense mutation in the \u03b1b-crystallin chaperone gene causes a desmin-related myopathy. <i>Nat Genet <\/i><b>20<\/b>, 92\u201395.","DOI":"10.1038\/1765"},{"key":"26","doi-asserted-by":"crossref","unstructured":"Warrier V, Vieira M and Mole SE (2013) Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. <i>Biochim Biophys Acta<\/i> \u2013 <i>Mol Basis Dis <\/i><b>1832<\/b>, 1827\u20131830.","DOI":"10.1016\/j.bbadis.2013.03.017"},{"key":"27","doi-asserted-by":"crossref","unstructured":"Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, <i>et al.<\/i> (2002) The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. <i>Am J <\/i><i>Hum Genet <\/i><b>70<\/b>, 537\u2013542.","DOI":"10.1086\/338708"},{"key":"28","doi-asserted-by":"crossref","unstructured":"Yamamoto S, Yamashita A, Arakaki N, Nemoto H and Yamazaki T (2014) Prevention of aberrant protein aggregation by anchoring the molecular chaperone \u03b1b-crystallin to the endoplasmic reticulum. <i>Biochem Biophys Res Commun <\/i><b>455<\/b>, 241\u2013245.","DOI":"10.1016\/j.bbrc.2014.10.151"},{"key":"29","doi-asserted-by":"crossref","unstructured":"Yamashita A, Hiraki Y and Yamazaki T (2017) Identification of CLN6 as a molecular entity of endoplasmic reticulum-driven anti-aggregate activity. <i>Biochem Biophys Res Commun <\/i><b>487<\/b>, 917\u2013922.","DOI":"10.1016\/j.bbrc.2017.05.002"},{"key":"30","doi-asserted-by":"crossref","unstructured":"Yamashita A, Shiro Y, Hiraki Y, Yujiri T and Yamazaki T (2020) Implications of graded reductions in CLN6\u2019s anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses. <i>Biochem Biophys Res Commun <\/i><b>525<\/b>, 883\u2013888.","DOI":"10.1016\/j.bbrc.2020.03.019"}],"container-title":["Biomedical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/biomedres\/42\/4\/42_129\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,7]],"date-time":"2023-01-07T04:59:21Z","timestamp":1673067561000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/biomedres\/42\/4\/42_129\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,12]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.2220\/biomedres.42.129","relation":{},"ISSN":["0388-6107","1880-313X"],"issn-type":[{"value":"0388-6107","type":"print"},{"value":"1880-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,12]]}}}