{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T15:35:55Z","timestamp":1784129755963,"version":"3.55.0"},"reference-count":73,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,1,25]],"date-time":"2005-01-25T00:00:00Z","timestamp":1106611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Neuroscience Research"],"published-print":{"date-parts":[[2005,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Infantile neuronal ceroid lipofuscinosis (INCL; Batten disease) is a severe neurodegenerative disorder of childhood characterized by the accumulation of autofluorescent storage material in lysosomes. It is caused by mutation of the <jats:italic>CLN1\/PPT1<\/jats:italic> gene, which encodes the lysosomal enzyme palmitoyl protein thioesterase\u20101 (PPT1), but the mechanism of disease pathogenesis and substrates for the enzyme are unknown. <jats:italic>Caenorhabditis elegans<\/jats:italic> is a simple nematode worm, with a fully sequenced genome, which is easy to maintain and manipulate. It has a completely mapped cell lineage and nervous system and has already provided clues about the pathogenesis of several human neuronal and lysosomal storage disorders. We have identified and characterized a PPT1 homologue in <jats:italic>C. elegans<\/jats:italic>. We found that, although this gene was not essential for the animal's survival, its mutation resulted in a mild developmental and reproductive phenotype, affected the number and size of mitochondria, and resulted in an abnormality in mitochondrial morphology, possibly suggestive of a role for this organelle in INCL pathogenesis. This strain, deleted for <jats:italic>ppt\u20101<\/jats:italic>, potentially provides a model system for the study of PPT1 and the pathogenesis of INCL. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/jnr.20403","type":"journal-article","created":{"date-parts":[[2005,1,25]],"date-time":"2005-01-25T17:47:03Z","timestamp":1106675223000},"page":"836-848","source":"Crossref","is-referenced-by-count":21,"title":["Identification and characterization of <i>Caenorhabditis elegans<\/i> palmitoyl protein thioesterase1"],"prefix":"10.1002","volume":"79","author":[{"given":"Morwenna Y.","family":"Porter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Turmaine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara E.","family":"Mole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,1,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.10492"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-7799(01)01925-4"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.080508097"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005564509027"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/stke.2002.152.pe41"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-4943(02)00007-9"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570238"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/77.1.71"},{"key":"e_1_2_6_10_1","volume-title":"Mitochondria and cell death","author":"Brown G","year":"1999"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0012-1606(76)90119-6"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)41567-0"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)31641-1"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.12.1421"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.1998.71010323.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2000.0741478.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1128\/EC.3.2.302-310.2004"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4547(20001015)62:2<234::AID-JNR8>3.0.CO;2-8"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0435"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.6.869"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2811"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0451"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00260a027"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02815004"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0969-2126(00)00529-3"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1018"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn940"},{"key":"e_1_2_6_28_1","volume-title":"Caenorhabditis elegans. Modern biological analysis of an organism","author":"Epstein HF","year":"1995"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0501-64"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/161.3.1101"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/150.1.129"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(03)00623-1"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2004.tb00499.x"},{"key":"e_1_2_6_34_1","volume-title":"The neuronal ceroid lipofuscinoses (Batten disease)","author":"Goebel HH","year":"1999"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.251485198"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh656"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20030598"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2000.2961"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1996.tb00909.x"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.062065399"},{"key":"e_1_2_6_41_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780199637393.001.0001","volume-title":"C. elegans. A practical approach","author":"Hope IA","year":"1999"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/0047-6374(94)90087-6"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/20694"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-3806(99)00115-7"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2821"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0197-0186(01)00128-0"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2202-4-30"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.1.69"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.00989"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0047-6374(01)00291-3"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.19.10046"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570237"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)00627-2"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M406207200"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01789"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.05.108"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970100902"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1006\/mcne.2001.1010"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(88)80075-5"},{"key":"e_1_2_6_60_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M313579200"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(99)00207-4"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/0012-1606(81)90367-5"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(00)00468-1"},{"key":"e_1_2_6_64_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0400709101"},{"key":"e_1_2_6_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.10272"},{"key":"e_1_2_6_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(03)00079-6"},{"key":"e_1_2_6_67_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M103999200"},{"key":"e_1_2_6_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(93)80908-D"},{"key":"e_1_2_6_69_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0134(20010101)42:1<108::AID-PROT110>3.0.CO;2-O"},{"key":"e_1_2_6_70_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2809"},{"key":"e_1_2_6_71_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.26.15831"},{"key":"e_1_2_6_72_1","doi-asserted-by":"publisher","DOI":"10.1038\/376584a0"},{"key":"e_1_2_6_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(01)51006-6"},{"key":"e_1_2_6_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/0891-5849(96)00175-X"}],"container-title":["Journal of Neuroscience Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjnr.20403","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jnr.20403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T02:06:02Z","timestamp":1700186762000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jnr.20403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,25]]},"references-count":73,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2005,3,15]]}},"alternative-id":["10.1002\/jnr.20403"],"URL":"https:\/\/doi.org\/10.1002\/jnr.20403","archive":["Portico"],"relation":{},"ISSN":["0360-4012","1097-4547"],"issn-type":[{"value":"0360-4012","type":"print"},{"value":"1097-4547","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1,25]]}}}