{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T20:56:55Z","timestamp":1782766615025,"version":"3.54.5"},"reference-count":40,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100008257","name":"Tarbiat Modares University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008257","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2021,7]]},"DOI":"10.1016\/j.mito.2021.03.012","type":"journal-article","created":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T05:40:50Z","timestamp":1617255650000},"page":"1-7","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"special_numbering":"C","title":["Crystallographic modeling of the PNPT1:c.1453A&gt;G variant as a cause of mitochondrial dysfunction and autosomal recessive deafness; expanding the neuroimaging and clinical features"],"prefix":"10.1016","volume":"59","author":[{"given":"Ali","family":"Hosseini Bereshneh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Rezaei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1152-2862","authenticated-orcid":false,"given":"Ehsan","family":"Jafarinia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Rajabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud Reza","family":"Ashrafi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Reza","family":"Tavasoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mito.2021.03.012_b0005","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"},{"key":"10.1016\/j.mito.2021.03.012_b0010","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ejhg.2016.128","article-title":"Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease","volume":"25","author":"Alodaib","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.mito.2021.03.012_b0015","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1261\/rna.144606","article-title":"Sequence-specific RNA binding mediated by the RNase PH domain of components of the exosome","volume":"12","author":"Anderson","year":"2006","journal-title":"RNA"},{"key":"10.1016\/j.mito.2021.03.012_b0020","first-page":"1","article-title":"Mitochondrial Calcium Uniporter as a potential therapeutic strategy for Alzheimer\u2019s disease (AD)","author":"Anila","year":"2019","journal-title":"Acta Neuropsychiatrica"},{"key":"10.1016\/j.mito.2021.03.012_b0025","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1172\/JCI120848","article-title":"Mitochondria, OxPhos, and neurodegeneration: cells are not just running out of gas","volume":"129","author":"Area-Gomez","year":"2019","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.mito.2021.03.012_b0030","doi-asserted-by":"crossref","first-page":"W344","DOI":"10.1093\/nar\/gkw408","article-title":"ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules","volume":"44","author":"Ashkenazy","year":"2016","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2021.03.012_b0035","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.ajhg.2016.08.012","article-title":"Guidelines for large-scale sequence-based complex trait association studies: lessons learned from the NHLBI exome sequencing project","volume":"99","author":"Auer","year":"2016","journal-title":"Am. J. Human Genetics"},{"key":"10.1016\/j.mito.2021.03.012_b0040","doi-asserted-by":"crossref","first-page":"D120","DOI":"10.1093\/nar\/gkh082","article-title":"ProTherm, version 4.0: thermodynamic database for proteins and mutants","volume":"32","author":"Bava","year":"2004","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2021.03.012_b0045","article-title":"Mitochondria as multifaceted regulators of cell death","volume":"1\u201316","author":"Bock","year":"2019","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.mito.2021.03.012_b0050","doi-asserted-by":"crossref","first-page":"W306","DOI":"10.1093\/nar\/gki375","article-title":"I-Mutant2. 0: predicting stability changes upon mutation from the protein sequence or structure","volume":"33","author":"Capriotti","year":"2005","journal-title":"Nucleic Acids Res."},{"issue":"16","key":"10.1016\/j.mito.2021.03.012_b0055","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/j.mito.2021.03.012_b0060","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Consortium, Genomes Project","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.mito.2021.03.012_b0065","first-page":"82","article-title":"Pymol: An open-source molecular graphics tool","volume":"40","author":"DeLano","year":"2002","journal-title":"CCP4 Newsletter on protein crystallography"},{"key":"10.1016\/j.mito.2021.03.012_b0070","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1038\/s41586-018-0363-0","article-title":"Mitochondrial double-stranded RNA triggers antiviral signalling in humans","volume":"560","author":"Dhir","year":"2018","journal-title":"Nature"},{"key":"10.1016\/j.mito.2021.03.012_b0075","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s12883-019-1387-2","article-title":"A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4","volume":"19","author":"Eidi","year":"2019","journal-title":"BMC Neurol."},{"key":"10.1016\/j.mito.2021.03.012_b0080","doi-asserted-by":"crossref","first-page":"1968","DOI":"10.1002\/humu.23880","article-title":"Iranome: A catalog of genomic variations in the Iranian population","volume":"40","author":"Fattahi","year":"2019","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mito.2021.03.012_b0085","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/nature12985","article-title":"Mitochondrial form and function","volume":"505","author":"Friedman","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.mito.2021.03.012_b0090","doi-asserted-by":"crossref","unstructured":"Garnier, Jean, Jean-Fran\u00e7ois Gibrat, Barry Robson, 1996. '[32] GOR method for predicting protein secondary structure from amino acid sequence.' in, Methods in enzymology (Elsevier).","DOI":"10.1016\/S0076-6879(96)66034-0"},{"key":"10.1016\/j.mito.2021.03.012_b0095","doi-asserted-by":"crossref","first-page":"8630","DOI":"10.1093\/nar\/gky642","article-title":"Crystal structure of dimeric human PNPase reveals why disease-linked mutants suffer from low RNA import and degradation activities","volume":"46","author":"Golzarroshan","year":"2018","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2021.03.012_b0100","first-page":"531210","article-title":"Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes","author":"Karczewski","year":"2019","journal-title":"BioRxiv"},{"key":"10.1016\/j.mito.2021.03.012_b0105","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.mito.2021.03.012_b0110","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2013","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2021.03.012_b0115","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"},{"key":"10.1016\/j.mito.2021.03.012_b0120","doi-asserted-by":"crossref","first-page":"4146","DOI":"10.1093\/nar\/gkr1281","article-title":"Crystal structure of human polynucleotide phosphorylase: insights into its domain function in RNA binding and degradation","volume":"40","author":"Lin","year":"2012","journal-title":"Nucl. Acids Res."},{"issue":"187\u2013201","key":"10.1016\/j.mito.2021.03.012_b0125","article-title":"PNPT1 release from mitochondria during apoptosis triggers decay of poly (A) RNAs","volume":"174","author":"Liu","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.mito.2021.03.012_b0130","doi-asserted-by":"crossref","first-page":"W222","DOI":"10.1093\/nar\/gkx313","article-title":"PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update","volume":"45","author":"L\u00f3pez-Ferrando","year":"2017","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2021.03.012_b0135","doi-asserted-by":"crossref","unstructured":"Lyu, PINGCHIANG C, John C. Sherman, Amy Chen, Neville R. Kallenbach. 1991. Alpha-helix stabilization by natural and unnatural amino acids with alkyl side chains, Proc. Natl. Acad. Sci., 88: 5317-20.","DOI":"10.1073\/pnas.88.12.5317"},{"key":"10.1016\/j.mito.2021.03.012_b0140","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ajme.2017.05.014","article-title":"An overview about mitochondrial DNA mutations in ovarian cancer","volume":"53","author":"Mahalaxmi","year":"2017","journal-title":"Alexandria J. Med."},{"key":"10.1016\/j.mito.2021.03.012_b0145","doi-asserted-by":"crossref","first-page":"3352","DOI":"10.1093\/hmg\/ddx221","article-title":"Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome","volume":"26","author":"Matilainen","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2021.03.012_b0150","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: Predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2021.03.012_b0155","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1016\/S0022-2836(03)00528-X","article-title":"Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria","volume":"329","author":"Piwowarski","year":"2003","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.mito.2021.03.012_b0160","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1261\/rna.698108","article-title":"Analysis of the human polynucleotide phosphorylase (PNPase) reveals differences in RNA binding and response to phosphate compared to its bacterial and chloroplast counterparts","volume":"14","author":"Portnoy","year":"2008","journal-title":"RNA"},{"key":"10.1016\/j.mito.2021.03.012_b0165","doi-asserted-by":"crossref","unstructured":"Pravda, Luk\u00e1\u0161, David Sehnal, Dominik Tou\u0161ek, Veronika Navr\u00e1tilov\u00e1, V\u00e1clav Bazgier, Karel Berka, Radka Svobodov\u00e1 Va\u0159ekov\u00e1, Jaroslav Ko\u010da, and Michal Otyepka. 2018. 'MOLEonline: a web-based tool for analyzing channels, tunnels and pores (2018 update)', Nucl. Acids Res., 46: W368-W73.","DOI":"10.1093\/nar\/gky309"},{"key":"10.1016\/j.mito.2021.03.012_b0170","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/gim.2015.148","article-title":"Clinical application of whole-exome sequencing across clinical indications","volume":"18","author":"Retterer","year":"2016","journal-title":"Genet. Med."},{"key":"10.1016\/j.mito.2021.03.012_b0175","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1111\/cge.13068","article-title":"Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination","volume":"93","author":"Sato","year":"2018","journal-title":"Clin. Genet."},{"key":"10.1016\/j.mito.2021.03.012_b0180","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"10.1016\/j.mito.2021.03.012_b0185","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: the NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2021.03.012_b0190","doi-asserted-by":"crossref","first-page":"e115","DOI":"10.1093\/nar\/gks596","article-title":"Primer3\u2014new capabilities and interfaces","volume":"40","author":"Untergasser","year":"2012","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mito.2021.03.012_b0195","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1016\/j.ajhg.2012.09.001","article-title":"Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency","volume":"91","author":"Vedrenne","year":"2012","journal-title":"Am. J. Human Genetics"},{"key":"10.1016\/j.mito.2021.03.012_b0200","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1093\/nar\/29.5.1017","article-title":"Exoribonuclease superfamilies: structural analysis and phylogenetic distribution","volume":"29","author":"Zuo","year":"2001","journal-title":"Nucl. Acids Res."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724921000441?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724921000441?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T18:27:49Z","timestamp":1761589669000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724921000441"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":40,"alternative-id":["S1567724921000441"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2021.03.012","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Crystallographic modeling of the PNPT1:c.1453A>G variant as a cause of mitochondrial dysfunction and autosomal recessive deafness; expanding the neuroimaging and clinical features","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2021.03.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier B.V. and Mitochondria Research Society. All rights reserved.","name":"copyright","label":"Copyright"}]}}