{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:13:44Z","timestamp":1790820824101,"version":"4.1.0"},"reference-count":71,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T00:00:00Z","timestamp":1564099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T00:00:00Z","timestamp":1564099200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2019,11]]},"DOI":"10.1002\/humu.23860","type":"journal-article","created":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T12:35:17Z","timestamp":1562589317000},"page":"1924-1938","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":64,"title":["Mutation update: Review of\n            <i>TPP1<\/i>\n            gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease"],"prefix":"10.1155","volume":"40","author":[{"given":"Emily","family":"Gardner","sequence":"first","affiliation":[{"name":"UCL MRC Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitch","family":"Bailey","sequence":"additional","affiliation":[{"name":"Global Scientific Affairs BioMarin Pharmaceutical Inc  Novato California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Schulz","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University Medical Center Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikel","family":"Aristorena","sequence":"additional","affiliation":[{"name":"UCL MRC Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Miller","sequence":"additional","affiliation":[{"name":"Global Scientific Affairs BioMarin Pharmaceutical Inc  Novato California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4385-4957","authenticated-orcid":false,"given":"Sara E.","family":"Mole","sequence":"additional","affiliation":[{"name":"UCL MRC Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health University College London  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,26]]},"reference":[{"key":"e_1_2_7_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.02.016"},{"key":"e_1_2_7_1_3_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac501994b"},{"issue":"2","key":"e_1_2_7_1_4_1","doi-asserted-by":"crossref","first-page":"e00023","DOI":"10.1042\/BSR20120104","article-title":"Different molecular mechanisms involved in spontaneous and oxidative stress\u2010induced mitochondrial fragmentation in tripeptidyl peptidase\u20101 (TPP\u20101)\u2010deficient fibroblasts","volume":"33","author":"Beersel G.","year":"2013","journal-title":"Bioscience Reports"},{"key":"e_1_2_7_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200002)47:2<254::AID-ANA19>3.0.CO;2-7"},{"issue":"1","key":"e_1_2_7_1_6_1","first-page":"S35","article-title":"Clinical presentation and molecular characterization of children with neuronal ceroid lipofuscinosis (NCL I & II) from India","volume":"39","author":"Bhavsar R.","year":"2016","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"e_1_2_7_1_7_1","unstructured":"Caillaud C. Manicom J. Peuch J. P. Lobel P. &Poenaru L.(1999).Enzymatic and molecular pre and postnatal diagnosis of ceroid lipofuscinoses in France(abstract: 1287). Paper presented at the The American Society of Human Genetics 49th annual meeting San Francisco California."},{"key":"e_1_2_7_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.12.005"},{"key":"e_1_2_7_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2015.05.014"},{"key":"e_1_2_7_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00690384"},{"key":"e_1_2_7_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2052.2005.01254.x"},{"key":"e_1_2_7_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_2_7_1_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001876"},{"key":"e_1_2_7_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-008-0349-3"},{"key":"e_1_2_7_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.07.011"},{"key":"e_1_2_7_1_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0176526"},{"key":"e_1_2_7_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2009.04.022"},{"key":"e_1_2_7_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2006.06.010"},{"key":"e_1_2_7_1_19_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2853"},{"key":"e_1_2_7_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2008.11.004"},{"key":"e_1_2_7_1_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.822"},{"key":"e_1_2_7_1_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww111"},{"key":"e_1_2_7_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.23423"},{"key":"e_1_2_7_1_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/gt.2017.4"},{"key":"e_1_2_7_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2017.08.017"},{"key":"e_1_2_7_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.12.058"},{"key":"e_1_2_7_1_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01214.x"},{"issue":"5","key":"e_1_2_7_1_28_1","first-page":"553","article-title":"Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile","volume":"123","author":"Kohan R.","year":"2008","journal-title":"Human Genetics"},{"key":"e_1_2_7_1_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21624"},{"key":"e_1_2_7_1_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1145>3.0.CO;2-Z"},{"key":"e_1_2_7_1_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03516.x"},{"key":"e_1_2_7_1_32_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M008562200"},{"key":"e_1_2_7_1_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt043"},{"key":"e_1_2_7_1_34_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2001.0514"},{"key":"e_1_2_7_1_35_1","unstructured":"Mole S. E.(2017). NCL mutation and patient database. Retrieved fromhttps:\/\/www.ucl.ac.uk\/ncl\u2010disease\/mutation\u2010and\u2010patient\u2010database"},{"key":"e_1_2_7_1_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.12.255"},{"key":"e_1_2_7_1_37_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0427"},{"key":"e_1_2_7_1_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01054.x"},{"key":"e_1_2_7_1_39_1","unstructured":"National Center for Biotechnology Information. (2018).National Library of Medicine. Database of Single Nucleotide Polymorphisms (dbSNP). Retrieved fromhttp:\/\/www.ncbi.nlm.nih.gov\/SNP\/"},{"key":"e_1_2_7_1_40_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1583730"},{"key":"e_1_2_7_1_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-4642(18)30179-2"},{"key":"e_1_2_7_1_42_1","first-page":"103","volume-title":"Neuronal Ceroid Lipofuscinoses (Batten Disease) in Latin America\u2013An Update","author":"Noher de Halac I.","year":"2005"},{"key":"e_1_2_7_1_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a021451"},{"issue":"42","key":"e_1_2_7_1_44_1","doi-asserted-by":"crossref","first-page":"26518","DOI":"10.1016\/S0021-9258(18)47225-0","article-title":"Cloning, nucleotide sequence, and expression of an isovaleryl pepstatin\u2010insensitive carboxyl proteinase gene from Pseudomonas sp. 101","volume":"269","author":"Oda K.","year":"1994","journal-title":"Journal of Biological Chemistry"},{"key":"e_1_2_7_1_45_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M806947200"},{"key":"e_1_2_7_1_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.05.014"},{"key":"e_1_2_7_1_47_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0109576"},{"key":"e_1_2_7_1_48_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.018820"},{"issue":"2","key":"e_1_2_7_1_49_1","first-page":"57","article-title":"Newborn screening","volume":"31","author":"Pitt J. J.","year":"2010","journal-title":"Clinical Biochemist Reviews"},{"key":"e_1_2_7_1_50_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww221"},{"key":"e_1_2_7_1_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_1_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.11.006"},{"key":"e_1_2_7_1_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2016.02.015"},{"key":"e_1_2_7_1_54_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1712649"},{"key":"e_1_2_7_1_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2013.04.011"},{"key":"e_1_2_7_1_56_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5333.1802"},{"key":"e_1_2_7_1_57_1","doi-asserted-by":"publisher","DOI":"10.1086\/302427"},{"key":"e_1_2_7_1_58_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2729-04.2004"},{"key":"e_1_2_7_1_59_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13820"},{"key":"e_1_2_7_1_60_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10660"},{"key":"e_1_2_7_1_61_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.029280"},{"key":"e_1_2_7_1_62_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22292"},{"key":"e_1_2_7_1_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200006)15:6<577::AID-HUMU10>3.0.CO;2-Z"},{"key":"e_1_2_7_1_64_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R110.134452"},{"key":"e_1_2_7_1_65_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.09.004"},{"key":"e_1_2_7_1_66_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-010-0258-1"},{"key":"e_1_2_7_1_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2006.07.001"},{"key":"e_1_2_7_1_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.01.034"},{"key":"e_1_2_7_1_69_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f0547"},{"key":"e_1_2_7_1_70_1","doi-asserted-by":"publisher","DOI":"10.18388\/abp.2003_3716"},{"key":"e_1_2_7_1_71_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-015-2272-4"},{"key":"e_1_2_7_1_72_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200011000-00002"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23860","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.23860","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.23860","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.23860","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:57:03Z","timestamp":1672333023000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23860"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,26]]},"references-count":71,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1002\/humu.23860"],"URL":"https:\/\/doi.org\/10.1002\/humu.23860","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,26]]},"assertion":[{"value":"2019-01-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}