{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T07:26:20Z","timestamp":1792481180943,"version":"4.5.0"},"reference-count":44,"publisher":"National Academy of Sciences","issue":"39","license":[{"start":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T00:00:00Z","timestamp":1632182400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"HHS | NIH | National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["NS116611"],"award-info":[{"award-number":["NS116611"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2021,9,28]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Mutation of\n                    <jats:italic>CLP1<\/jats:italic>\n                    causes pontocerebellar hypoplasia type 10 (PCH10), a neurodegenerative disorder associated with intellectual and motor disability. We made two mouse models of PCH10: one homozygous for the mutation found in patients and one heterozygous for this mutation and a null allele. Mutant mice had motor impairments and neurodegeneration in the spinal cord and cerebellum. Mutants also had altered tRNA metabolism; however, it is not clear whether these alterations contribute to pathogenesis. In addition, mutation of\n                    <jats:italic>Clp1<\/jats:italic>\n                    resulted in altered poly(A) site selection and gene expression, suggesting that the role of CLP1 in mRNA 3\u2032 end processing could be a promising avenue for future research into the pathogenesis of PCH10.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2110730118","type":"journal-article","created":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T15:45:57Z","timestamp":1632239157000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":40,"title":["The\n                    <i>Clp1<\/i>\n                    R140H mutation alters tRNA metabolism and mRNA 3\u2032 processing in mouse models of pontocerebellar hypoplasia"],"prefix":"10.1073","volume":"118","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7055-3610","authenticated-orcid":false,"given":"Caitlin E.","family":"Monaghan","sequence":"first","affiliation":[{"name":"Department of Cellular and Molecular Medicine, Division of Biological Sciences, Section of Neurobiology, University of California San Diego, La Jolla, CA 92093;"},{"name":"HHMI, University of California San Diego, La Jolla, CA 92093;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott I.","family":"Adamson","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory for Genomic Medicine, Farmington, CT 06030;"},{"name":"Department of Genetics and Genome Sciences, Institute for Systems Genomics, UConn Health, Farmington, CT 06030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mridu","family":"Kapur","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine, Division of Biological Sciences, Section of Neurobiology, University of California San Diego, La Jolla, CA 92093;"},{"name":"HHMI, University of California San Diego, La Jolla, CA 92093;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey H.","family":"Chuang","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory for Genomic Medicine, Farmington, CT 06030;"},{"name":"Department of Genetics and Genome Sciences, Institute for Systems Genomics, UConn Health, Farmington, CT 06030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6740-593X","authenticated-orcid":false,"given":"Susan L.","family":"Ackerman","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine, Division of Biological Sciences, Section of Neurobiology, University of California San Diego, La Jolla, CA 92093;"},{"name":"HHMI, University of California San Diego, La Jolla, CA 92093;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2021,9,21]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.02.058"},{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.03.049"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.01.002"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature11923"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature05777"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(04)00342-3"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/19.21.5895"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1197847"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa438"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.17.4642"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.244673.114"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2016.116"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1261\/rna.068056.118"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-07580-5"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005166"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1261\/rna.075226.120"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.52985"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2019.02.049"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2019.01.027"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1261\/rna.057075.116"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-021-07781-1"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2016.01.020"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3582-16.2017"},{"key":"e_1_3_4_24_2","doi-asserted-by":"crossref","unstructured":"S. Sekulovski . Assembly defects of the human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia. bioRxiv [Preprint] (2020). https:\/\/doi.org\/10.1101\/2020.08.03.234229 (Accessed 20 April 2021).","DOI":"10.1101\/2020.08.03.234229"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.204"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.12.015"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.7.2505-2516.2000"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2015.09.008"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41401-020-0375-9"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2020.02.157"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2720"},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2015.11.017"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.020"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.12.001"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-106861"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.12.015"},{"key":"e_1_3_4_37_2","doi-asserted-by":"publisher","DOI":"10.1371\/currents.md.1e2bec4e78697b7b0ff80ea25a1d38be"},{"key":"e_1_3_4_38_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2757-14.2015"},{"key":"e_1_3_4_39_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.50617"},{"key":"e_1_3_4_40_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1249749"},{"key":"e_1_3_4_41_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep16763"},{"key":"e_1_3_4_42_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3629"},{"key":"e_1_3_4_43_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-7204-3_6"},{"key":"e_1_3_4_44_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.4324"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pnas.org\/syndication\/doi\/10.1073\/pnas.2110730118","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.2110730118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T08:58:12Z","timestamp":1649840292000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.2110730118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,21]]},"references-count":44,"journal-issue":{"issue":"39","published-print":{"date-parts":[[2021,9,28]]}},"alternative-id":["10.1073\/pnas.2110730118"],"URL":"https:\/\/doi.org\/10.1073\/pnas.2110730118","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,21]]},"assertion":[{"value":"2021-08-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2110730118"}}