{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T11:32:43Z","timestamp":1779363163506,"version":"3.51.4"},"reference-count":40,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T00:00:00Z","timestamp":1689897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009068","name":"University of Bern","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009068","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genomics"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.ygeno.2023.110689","type":"journal-article","created":{"date-parts":[[2023,7,23]],"date-time":"2023-07-23T13:24:33Z","timestamp":1690118673000},"page":"110689","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Loss-of-function variant in the ovine TMCO6 gene in North Country Cheviot sheep with motor neuron disease"],"prefix":"10.1016","volume":"115","author":[{"given":"Anna","family":"Letko","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz","family":"Br\u00fclisauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene M.","family":"H\u00e4fliger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eilidh","family":"Corr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Scholes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ygeno.2023.110689_bb0005","series-title":"Practical Guide to Neurogenetics","first-page":"150","article-title":"Motor neuron diseases","author":"Warner","year":"2009"},{"key":"10.1016\/j.ygeno.2023.110689_bb0010","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.amjmed.2018.07.012","article-title":"Motor neuron disease: pathophysiology, diagnosis, and management","volume":"132","author":"Foster","year":"2019","journal-title":"Am. J. Med."},{"key":"10.1016\/j.ygeno.2023.110689_bb0015","first-page":"49","article-title":"The genetics of amyotrophic lateral sclerosis: current insights","volume":"6","author":"Kirby","year":"2016","journal-title":"Degener Neurol. Neuromuscul. Dis."},{"key":"10.1016\/j.ygeno.2023.110689_bb0020","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1177\/030098588502200202","article-title":"\u201cShaker\u201d calf syndrome: a newly recognized inherited neurodegenerative disorder of horned Hereford calves","volume":"22","author":"Rousseaux","year":"1985","journal-title":"Vet. Pathol."},{"key":"10.1016\/j.ygeno.2023.110689_bb0025","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1038\/hdy.2012.23","article-title":"A missense mutation in AGTPBP1 was identified in Sheep with a lower motor neuron disease","volume":"109","author":"Zhao","year":"2012","journal-title":"Heredity (Edinb)"},{"key":"10.1016\/j.ygeno.2023.110689_bb0030","series-title":"Sheep Genome Variants V2. Commonwealth Scientific and Industrial Research Organisation (CSIRO). Data Collection","author":"Daetwyler","year":"2019"},{"key":"10.1016\/j.ygeno.2023.110689_bb0040","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1101\/gr.097857.109","article-title":"Detection of nonneutral substitution rates on mammalian phylogenies","volume":"20","author":"Pollard","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.ygeno.2023.110689_bb0045","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res."},{"key":"10.1016\/j.ygeno.2023.110689_bb0050","doi-asserted-by":"crossref","first-page":"D344","DOI":"10.1093\/nar\/gkaa977","article-title":"The InterPro protein families and domains database: 20 years on","volume":"49","author":"Blum","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ygeno.2023.110689_bb0055","doi-asserted-by":"crossref","first-page":"5818","DOI":"10.1038\/s41598-018-23938-7","article-title":"Canine NAPEPLD-associated models of human myelin disorders","volume":"8","author":"Minor","year":"2018","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ygeno.2023.110689_bb0060","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1111\/j.1365-2052.2009.01987.x","article-title":"A shared 336kb haplotype associated with the belt pattern in three divergent cattle breeds","volume":"41","author":"Dr\u00f6gem\u00fcller","year":"2010","journal-title":"Anim. Genet."},{"key":"10.1016\/j.ygeno.2023.110689_bb0065","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1242\/jcs.002410","article-title":"Post-translational integration of tail-anchored proteins is facilitated by defined molecular chaperones","volume":"120","author":"Abell","year":"2007","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.ygeno.2023.110689_bb0070","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1111\/tra.12550","article-title":"Discrimination between the endoplasmic reticulum and mitochondria by spontaneously inserting tail-anchored proteins","volume":"19","author":"Figueiredo Costa","year":"2018","journal-title":"Traffic"},{"key":"10.1016\/j.ygeno.2023.110689_bb0075","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0220917","article-title":"Mouse TMCO5 is localized to the Manchette microtubules involved in vesicle transfer in the elongating spermatids","volume":"14","author":"Yamase","year":"2019","journal-title":"PLoS One"},{"key":"10.1016\/j.ygeno.2023.110689_bb0080","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1038\/nature04377","article-title":"Functional genomics reveals genes involved in protein secretion and Golgi organization","volume":"439","author":"Bard","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.ygeno.2023.110689_bb0085","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/mrd.23108","article-title":"A membrane protein, TMCO5A, has a close relationship with Manchette microtubules in rat spermatids during Spermiogenesis","volume":"86","author":"Kaneko","year":"2019","journal-title":"Mol. Reprod. Dev."},{"key":"10.1016\/j.ygeno.2023.110689_bb0095","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006997","article-title":"A High resolution atlas of gene expression in the domestic Sheep (Ovis Aries)","volume":"13","author":"Clark","year":"2017","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ygeno.2023.110689_bb0100","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1038\/nature04209","article-title":"Towards a proteome-scale map of the human protein-protein interaction network","volume":"437","author":"Rual","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.ygeno.2023.110689_bb0105","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.neurobiolaging.2021.05.016","article-title":"The role of frontotemporal dementia associated genes in patients with Alzheimer\u2019s disease","volume":"107","author":"Xiao","year":"2021","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.ygeno.2023.110689_bb0110","article-title":"Association of the Protein-Quality-Control Protein Ubiquilin-1 with Alzheimer\u2019s disease both in vitro and in vivo","volume":"16","author":"Zhang","year":"2022","journal-title":"Front. Neurosci."},{"key":"10.1016\/j.ygeno.2023.110689_bb0115","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/ng1934","article-title":"Systematic Meta-analyses of Alzheimer disease genetic association studies: the AlzGene database","volume":"39","author":"Bertram","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ygeno.2023.110689_bb0120","doi-asserted-by":"crossref","first-page":"2752","DOI":"10.1056\/NEJM200506303522618","article-title":"The Ubiquilin 1 gene and Alzheimer\u2019s disease","volume":"352","author":"Slifer","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ygeno.2023.110689_bb0125","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.nbd.2012.06.018","article-title":"Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS","volume":"48","author":"Gonz\u00e1lez-P\u00e9rez","year":"2012","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ygeno.2023.110689_bb0130","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1002\/ana.24164","article-title":"UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration","volume":"75","author":"Fahed","year":"2014","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ygeno.2023.110689_bb0135","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/nature10353","article-title":"Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS\/dementia","volume":"477","author":"Deng","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ygeno.2023.110689_bb0140","doi-asserted-by":"crossref","first-page":"2813","DOI":"10.1523\/JNEUROSCI.3541-13.2014","article-title":"Ubiquilin-1 protects cells from oxidative stress and ischemic stroke caused tissue injury in mice","volume":"34","author":"Liu","year":"2014","journal-title":"J. Neurosci."},{"key":"10.1016\/j.ygeno.2023.110689_bb0145","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s00401-014-1367-y","article-title":"Pathogenic Ubqln2 gains toxic properties to induce neuron death","volume":"129","author":"Wu","year":"2015","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ygeno.2023.110689_bb0150","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint Spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ygeno.2023.110689_bb0155","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1016\/j.gim.2022.04.006","article-title":"ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)","volume":"24","author":"Miller","year":"2022","journal-title":"Genet. Med."},{"key":"10.1016\/j.ygeno.2023.110689_bb0170","doi-asserted-by":"crossref","first-page":"i884","DOI":"10.1093\/bioinformatics\/bty560","article-title":"Fastp: an ultra-fast all-in-one FASTQ preprocessor","volume":"34","author":"Chen","year":"2018","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ygeno.2023.110689_bb0175","doi-asserted-by":"crossref","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with burrows-wheeler transform","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ygeno.2023.110689_bb0180","series-title":"Genomics in the Cloud: Using Docker, GATK, and WDL in Terra","author":"Van der Auwera","year":"2020"},{"key":"10.1016\/j.ygeno.2023.110689_bb0185","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"Gigascience"},{"key":"10.1016\/j.ygeno.2023.110689_bb0190","series-title":"DetectRUNS: An R Package to Detect Runs of Homozygosity and Heterozygosity in Diploid Genomes","author":"Biscarini","year":"2019"},{"key":"10.1016\/j.ygeno.2023.110689_bb0195","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12864-020-6463-x","article-title":"How to study runs of homozygosity using Plink? A guide for analyzing medium density Snp data in livestock and pet species","volume":"21","author":"Meyermans","year":"2020","journal-title":"BMC Genomics"},{"key":"10.1016\/j.ygeno.2023.110689_bb0200","author":"Sheep Genomes"},{"key":"10.1016\/j.ygeno.2023.110689_bb0205","doi-asserted-by":"crossref","first-page":"2987","DOI":"10.1093\/bioinformatics\/btr509","article-title":"A statistical framework for SNP calling, mutation discovery, association mapping and population Genetical parameter estimation from sequencing data","volume":"27","author":"Li","year":"2011","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ygeno.2023.110689_bb0210","first-page":"559","article-title":"Qqman: an R package for visualizing GWAS results using Q-Q and Manhattan plots","volume":"81","author":"Turner","year":"2014","journal-title":"bioRxiv"},{"key":"10.1016\/j.ygeno.2023.110689_bb0215","series-title":"A Language and Environment for Statistical Computing","author":"R Core Team R","year":"2019"},{"key":"10.1016\/j.ygeno.2023.110689_bb0220","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1186\/1471-2105-13-134","article-title":"Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction","volume":"13","author":"Ye","year":"2012","journal-title":"BMC Bioinform."}],"container-title":["Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754323001337?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754323001337?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:42:45Z","timestamp":1760164965000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0888754323001337"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":40,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["S0888754323001337"],"URL":"https:\/\/doi.org\/10.1016\/j.ygeno.2023.110689","relation":{},"ISSN":["0888-7543"],"issn-type":[{"value":"0888-7543","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Loss-of-function variant in the ovine TMCO6 gene in North Country Cheviot sheep with motor neuron disease","name":"articletitle","label":"Article Title"},{"value":"Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ygeno.2023.110689","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"110689"}}