{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:52:30Z","timestamp":1762001550222,"version":"build-2065373602"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,7,13]],"date-time":"2018-07-13T00:00:00Z","timestamp":1531440000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1016\/j.ymgmr.2018.07.003","type":"journal-article","created":{"date-parts":[[2018,7,20]],"date-time":"2018-07-20T20:29:26Z","timestamp":1532118566000},"page":"46-51","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"C","title":["Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms"],"prefix":"10.1016","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3482-6962","authenticated-orcid":false,"given":"Kishore R.","family":"Kumar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gautam","family":"Wali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan L.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amali C.","family":"Mallawaarachchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth E.","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2457-6261","authenticated-orcid":false,"given":"Velimir","family":"Gayevskiy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre E.","family":"Minoche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Veivers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel E.","family":"Dinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Mackay-Sim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark J.","family":"Cowley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn M.","family":"Sue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.ymgmr.2018.07.003_bb0005","doi-asserted-by":"crossref","first-page":"1622","DOI":"10.1086\/302161","article-title":"Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D","volume":"63","author":"Honsho","year":"1998","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ymgmr.2018.07.003_bb0010","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1006\/bbrc.2002.6642","article-title":"A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome","volume":"292","author":"Shimozawa","year":"2002","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"9","key":"10.1016\/j.ymgmr.2018.07.003_bb0015","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1136\/jmg.2009.074302","article-title":"Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene","volume":"47","author":"Ebberink","year":"2010","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgmr.2018.07.003_bb0020","first-page":"15","article-title":"A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey","volume":"5","author":"Bacino","year":"2015","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"4","key":"10.1016\/j.ymgmr.2018.07.003_bb0025","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s10048-016-0495-z","article-title":"Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing","volume":"17","author":"Kumar","year":"2016","journal-title":"Neurogenetics"},{"issue":"46","key":"10.1016\/j.ymgmr.2018.07.003_bb0030","doi-asserted-by":"crossref","first-page":"44513","DOI":"10.1074\/jbc.M206139200","article-title":"The Membrane Biogenesis Peroxin Pex16p: Topogenesis and functional roles in peroxisomal membrane assembLY","volume":"277","author":"Honsho","year":"2002","journal-title":"J. Biol. Chem."},{"issue":"4","key":"10.1016\/j.ymgmr.2018.07.003_bb0035","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1089\/ars.2009.2996","article-title":"Peroxisomes are oxidative organelles","volume":"13","author":"Antonenkov","year":"2010","journal-title":"Antioxid. Redox Signal."},{"issue":"8","key":"10.1016\/j.ymgmr.2018.07.003_bb0040","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1001\/archotol.124.8.861","article-title":"NEw techniques for biopsy and culture of human olfactory epithelial neurons","volume":"124","author":"F\u00e9ron","year":"1998","journal-title":"Archiv. Otolaryngol."},{"issue":"2","key":"10.1016\/j.ymgmr.2018.07.003_bb0045","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1002\/dvdy.20360","article-title":"Multipotent stem cells from adult olfactory mucosa","volume":"233","author":"Murrell","year":"2005","journal-title":"Dev. Dyn."},{"issue":"11\u221212","key":"10.1016\/j.ymgmr.2018.07.003_bb0050","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1242\/dmm.005447","article-title":"Disease-specific, neurosphere-derived cells as models for brain disorders","volume":"3","author":"Matigian","year":"2010","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.ymgmr.2018.07.003_bb0055","doi-asserted-by":"crossref","DOI":"10.1038\/srep27004","article-title":"Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia","volume":"6","author":"Wali","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ymgmr.2018.07.003_bb0060","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddt101","article-title":"A patient-derived olfactory stem cell disease model for ataxia-telangiectasia","author":"Stewart","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgmr.2018.07.003_bb0065","series-title":"ATM Kinase: Methods and Protocols","first-page":"391","article-title":"A patient-specific stem cell model to investigate the neurological phenotype observed in ataxia-telangiectasia","author":"Stewart","year":"2017"},{"issue":"7616","key":"10.1016\/j.ymgmr.2018.07.003_bb0070","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"doi-asserted-by":"crossref","unstructured":"Gayevskiy V, Roscioli T, Dinger ME, Cowley MJ. Seave: a comprehensive web platform for storing and interrogating human genomic variation. Bioinformatics doi: https:\/\/doi.org\/10.1093\/bioinformatics\/bty540.","key":"10.1016\/j.ymgmr.2018.07.003_bb0075","DOI":"10.1093\/bioinformatics\/bty540"},{"key":"10.1016\/j.ymgmr.2018.07.003_bb0080","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1242\/jcs.02776","article-title":"Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance","volume":"119","author":"Nguyen","year":"2006","journal-title":"J. Cell Sci."},{"issue":"4","key":"10.1016\/j.ymgmr.2018.07.003_bb0085","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1007\/s00418-013-1133-6","article-title":"The biogenesis protein PEX14 is an optimal marker for the identification and localization of peroxisomes in different cell types, tissues, and species in morphological studies","volume":"140","author":"Grant","year":"2013","journal-title":"Histochem. Cell Biol."},{"key":"10.1016\/j.ymgmr.2018.07.003_bb0090","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nmeth.2089","article-title":"NIH Image to ImageJ: 25 years of image analysis","volume":"9","author":"Schneider","year":"2012","journal-title":"Nat. Methods"},{"issue":"7","key":"10.1016\/j.ymgmr.2018.07.003_bb0095","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"issue":"4","key":"10.1016\/j.ymgmr.2018.07.003_bb0100","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"issue":"3","key":"10.1016\/j.ymgmr.2018.07.003_bb0105","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgmr.2018.07.003_bb0110","article-title":"The Medical Genome Reference Bank: a whole-genome data resource of 4,000 healthy elderly individuals. Rationale and cohort design","author":"Lacaze","year":"2018","journal-title":"bioRxiv"},{"issue":"1","key":"10.1016\/j.ymgmr.2018.07.003_bb0115","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1750-1172-6-8","article-title":"Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene","volume":"6","author":"Sevin","year":"2011","journal-title":"Orphan. J. Rare Dis."},{"doi-asserted-by":"crossref","unstructured":"R\u00e9gal L, Ebberink MS, Goemans N, Wanders RJA, De Meirleir L, Jaeken J, Schrooten M, Van Coster R, Waterham HR (2010) Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann. Neurol. 68 (2):259\u2013263. doi:https:\/\/doi.org\/10.1002\/ana.22035.","key":"10.1016\/j.ymgmr.2018.07.003_bb0120","DOI":"10.1002\/ana.22035"},{"issue":"1","key":"10.1016\/j.ymgmr.2018.07.003_bb0125","first-page":"14","article-title":"MRS findings in a patient with juvenile-onset Alexander's leukodystrophy","volume":"165","author":"Nelson","year":"2013","journal-title":"J. La State Med. Soc."},{"issue":"3\u20135","key":"10.1016\/j.ymgmr.2018.07.003_bb0130","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1159\/000111347","article-title":"Multinuclear NMR studies on the energy metabolism of glial and neuronal cells","volume":"15","author":"Brand","year":"1993","journal-title":"Dev. Neurosci."},{"issue":"3","key":"10.1016\/j.ymgmr.2018.07.003_bb0135","doi-asserted-by":"crossref","first-page":"2079","DOI":"10.1016\/j.neuroimage.2010.10.017","article-title":"In vivo mapping of brain myo-inositol","volume":"54","author":"Haris","year":"2011","journal-title":"NeuroImage"},{"issue":"4","key":"10.1016\/j.ymgmr.2018.07.003_bb0140","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1007\/s10545-016-9922-4","article-title":"The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders","volume":"39","author":"Ferdinandusse","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"issue":"Suppl 1","key":"10.1016\/j.ymgmr.2018.07.003_bb0145","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1007\/BF00711431","article-title":"Assay of plasmalogens and polyunsaturated fatty acids (PUFA) in erythrocytes and fibroblasts","volume":"18","author":"Dacremont","year":"1995","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2018.07.003_bb0150","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2013.00241","article-title":"PEX16: a multifaceted regulator of peroxisome biogenesis","volume":"4","author":"Kim","year":"2013","journal-title":"Front. Physiol."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426918300715?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426918300715?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:49:58Z","timestamp":1762001398000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426918300715"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":30,"alternative-id":["S2214426918300715"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2018.07.003","relation":{},"ISSN":["2214-4269"],"issn-type":[{"type":"print","value":"2214-4269"}],"subject":[],"published":{"date-parts":[[2018,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2018.07.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}