{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T23:14:10Z","timestamp":1784762050357,"version":"3.55.0"},"reference-count":57,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2022,6,29]],"date-time":"2022-06-29T00:00:00Z","timestamp":1656460800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PI18\/00147"],"award-info":[{"award-number":["PI18\/00147"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PI21\/00103"],"award-info":[{"award-number":["PI21\/00103"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spanish Ministry of Economy and Competitiveness","award":["SAF2017-89020-R"],"award-info":[{"award-number":["SAF2017-89020-R"]}]},{"DOI":"10.13039\/100008666","name":"Fundaci\u00f3 la Marat\u00f3 de TV3","doi-asserted-by":"publisher","award":["20143130"],"award-info":[{"award-number":["20143130"]}],"id":[{"id":"10.13039\/100008666","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008666","name":"Fundaci\u00f3 la Marat\u00f3 de TV3","doi-asserted-by":"publisher","award":["20143131"],"award-info":[{"award-number":["20143131"]}],"id":[{"id":"10.13039\/100008666","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003359","name":"Generalitat Valenciana","doi-asserted-by":"publisher","award":["PROMETEO\/2018\/135"],"award-info":[{"award-number":["PROMETEO\/2018\/135"]}],"id":[{"id":"10.13039\/501100003359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Spanish Ministry of Science and Innovation","doi-asserted-by":"publisher","award":["RyC-2014-16410"],"award-info":[{"award-number":["RyC-2014-16410"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Spanish Ministry of Science and Innovation","doi-asserted-by":"publisher","award":["PRE2018-083562"],"award-info":[{"award-number":["PRE2018-083562"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,11,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Peroxiredoxin 3 (PRDX3) encodes a mitochondrial antioxidant protein, which is essential for the control of reactive oxygen species homeostasis. So far, PRDX3 mutations are involved in mild-to-moderate progressive juvenile onset cerebellar ataxia. We aimed to unravel the molecular bases underlying the disease in an infant suffering from cerebellar ataxia that started at 19\u00a0months old and presented severe cerebellar atrophy and peripheral neuropathy early in the course of disease. By whole exome sequencing, we identified a novel homozygous mutation, PRDX3 p.D163E, which impaired the mitochondrial ROS defense system. In mouse primary cortical neurons, the exogenous expression of PRDX3 p.D163E was reduced and triggered alterations in neurite morphology and in mitochondria. Mitochondrial computational parameters showed that p.D163E led to serious mitochondrial alterations. In transfected HeLa cells expressing the mutation, mitochondria accumulation was detected by correlative light electron microscopy. Mitochondrial morphology showed severe changes, including extremely damaged outer and inner membranes with a notable cristae disorganization. Moreover, spherical structures compatible with lipid droplets were identified, which can be associated with a generalized response to stress and can be involved in the removal of unfolded proteins. In the patient\u2019s fibroblasts, PRDX3 expression was nearly absent. The biochemical analysis suggested that the mutation p.D163E would result in an unstable structure tending to form aggregates that trigger unfolded protein responses via mitochondria and endoplasmic reticulum. Altogether, our findings broaden the clinical spectrum of the recently described PRDX3-associated neurodegeneration and provide new insight into the pathological mechanisms underlying this new form of cerebellar ataxia.<\/jats:p>","DOI":"10.1093\/hmg\/ddac146","type":"journal-article","created":{"date-parts":[[2022,6,29]],"date-time":"2022-06-29T13:56:42Z","timestamp":1656511002000},"page":"3897-3913","source":"Crossref","is-referenced-by-count":15,"title":["Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in <i>PRDX3<\/i>"],"prefix":"10.1093","volume":"31","author":[{"given":"Dolores","family":"Mart\u00ednez-Rubio","sequence":"first","affiliation":[{"name":"Rare Neurodegenerative Diseases Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) , Valencia 46012 , Spain"},{"name":"Joint Unit CIPF-IIS La Fe Rare Diseases , Valencia 46012 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1ngela","family":"Rodr\u00edguez-Prieto","sequence":"additional","affiliation":[{"name":"Cortical Circuits in Health and Disease Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) , Valencia 46012 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Sancho","sequence":"additional","affiliation":[{"name":"Rare Neurodegenerative Diseases Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) , Valencia 46012 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Navarro-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Cortical Circuits in Health and Disease Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) , Valencia 46012 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nerea","family":"Gorr\u00eda-Redondo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit , Department of Pediatrics, , Navarrabiomed, Pamplona 31008 , Spain"},{"name":"Complejo Hospitalario de Navarra , Department of Pediatrics, , Navarrabiomed, Pamplona 31008 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Miquel-Leal","sequence":"additional","affiliation":[{"name":"Cortical Circuits in Health and Disease Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) , Valencia 46012 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Marco-Mar\u00edn","sequence":"additional","affiliation":[{"name":"Structural Enzymopathology Unit, Instituto de Biomedicina de Valencia (IBV), Consejo Superior de Investigaciones Cient\u00edficas (CSIC), CIBER de Enfermedades Raras (CIBERER-ISCIII) , Valencia 46010 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Jenkins","sequence":"additional","affiliation":[{"name":"Rare Neurodegenerative Diseases Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) , Valencia 46012 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Soriano-Navarro","sequence":"additional","affiliation":[{"name":"Electron Microscopy Core Facility, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) , Valencia 46012 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Service of Advanced Light Microscopy, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) , Valencia 46012 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bel\u00e9n","family":"P\u00e9rez-Due\u00f1as","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca , Barcelona 08035 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Fazzari","sequence":"additional","affiliation":[{"name":"Cortical Circuits in Health and Disease Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) , Valencia 46012 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Aguilera-Albesa","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit , Department of Pediatrics, , Navarrabiomed, Pamplona 31008 , Spain"},{"name":"Complejo Hospitalario de Navarra , Department of Pediatrics, , Navarrabiomed, Pamplona 31008 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4435-1809","authenticated-orcid":false,"given":"Carmen","family":"Espin\u00f3s","sequence":"additional","affiliation":[{"name":"Rare Neurodegenerative Diseases Laboratory, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) , Valencia 46012 , Spain"},{"name":"Joint Unit CIPF-IIS La Fe Rare Diseases , Valencia 46012 , Spain"},{"name":"Biotechnology Department , Faculty of Veterinary and Experimental Sciences, , Valencia 46001 , Spain"},{"name":"Universidad Cat\u00f3lica de Valencia San Vicente M\u00e1rtir , Faculty of Veterinary and Experimental Sciences, , Valencia 46001 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,6,29]]},"reference":[{"key":"2022121614431161400_ref1","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1016\/j.neuron.2008.10.010","article-title":"Mitochondria in neuroplasticity and neurological disorders","volume":"60","author":"Mattson","year":"2008","journal-title":"Neuron"},{"key":"2022121614431161400_ref2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/B978-0-12-801415-8.00005-9","article-title":"Characterization of mitochondrial transport in neurons","volume":"547","author":"Zhou","year":"2014","journal-title":"Methods Enzymol."},{"key":"2022121614431161400_ref3","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.3390\/antiox9101020","article-title":"Mitochondrial dysfunction, oxidative stress and neuroinflammation in neurodegeneration with brain iron accumulation (NBIA)","volume":"9","author":"Hinarejos","year":"2020","journal-title":"Antioxidants (Basel)"},{"key":"2022121614431161400_ref4","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.3390\/molecules24081583","article-title":"Oxidative stress: a key modulator in neurodegenerative diseases","volume":"24","author":"Singh","year":"2019","journal-title":"Molecules"},{"key":"2022121614431161400_ref5","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1111\/cge.13057","article-title":"On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation","volume":"93","author":"Tello","year":"2018","journal-title":"Clin. Genet."},{"key":"2022121614431161400_ref6","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1093\/brain\/awv350","article-title":"Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration","volume":"139","author":"Holzerova","year":"2016","journal-title":"Brain"},{"key":"2022121614431161400_ref7","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1093\/brain\/awab071","article-title":"Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia","volume":"144","author":"Rebelo","year":"2021","journal-title":"Brain"},{"key":"2022121614431161400_ref8","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1002\/ana.25084","article-title":"A recessive ataxia diagnosis algorithm for the next generation sequencing era","volume":"82","author":"Renaud","year":"2017","journal-title":"Ann. Neurol."},{"key":"2022121614431161400_ref9","volume-title":"Cerebellar Disorders in Children","author":"Baxter","year":"2012"},{"key":"2022121614431161400_ref10","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.parkreldis.2018.10.013","article-title":"PLA2G6-associated neurodegeneration: new insights into brain abnormalities and disease progression","volume":"61","author":"Darling","year":"2019","journal-title":"Parkinsonism Relat. Disord."},{"key":"2022121614431161400_ref11","doi-asserted-by":"crossref","first-page":"2505","DOI":"10.3390\/ijms22052505","article-title":"Expanding the \u03b2-III spectrin-associated phenotypes toward non-progressive congenital ataxias with neurodegeneration","volume":"22","author":"Sancho","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"2022121614431161400_ref12","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"2022121614431161400_ref13","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1042\/BJ20091541","article-title":"Mitochondrial peroxiredoxin involvement in antioxidant defence and redox signalling","volume":"425","author":"Cox","year":"2009","journal-title":"Biochem. J."},{"key":"2022121614431161400_ref14","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1152\/physrev.00026.2013","article-title":"Mitochondrial reactive oxygen species (ROS) and ROS-induced ROS release","volume":"94","author":"Zorov","year":"2014","journal-title":"Physiol. Rev."},{"key":"2022121614431161400_ref15","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.biocel.2015.01.021","article-title":"Mitochondria: much ado about nothing? How dangerous is reactive oxygen species production?","volume":"63","author":"Holzerova","year":"2015","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"2022121614431161400_ref16","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.abb.2007.05.001","article-title":"Mitochondrial thioredoxin-2\/peroxiredoxin-3 system functions in parallel with mitochondrial GSH system in protection against oxidative stress","volume":"465","author":"Zhang","year":"2007","journal-title":"Arch. Biochem. Biophys."},{"key":"2022121614431161400_ref17","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.02196","article-title":"Cell autonomous regulation of hippocampal circuitry via Aph1b-gamma-secretase\/neuregulin 1 signalling","volume":"3","author":"Fazzari","year":"2014","journal-title":"elife"},{"key":"2022121614431161400_ref18","doi-asserted-by":"crossref","first-page":"3930186","DOI":"10.1155\/2019\/3930186","article-title":"Nrg1 intracellular signaling is neuroprotective upon stroke","volume":"2019","author":"Navarro-Gonzalez","year":"2019","journal-title":"Oxidative Med. Cell. Longev."},{"key":"2022121614431161400_ref19","doi-asserted-by":"crossref","first-page":"6649","DOI":"10.1073\/pnas.102523299","article-title":"The c-Myc target gene PRDX3 is required for mitochondrial homeostasis and neoplastic transformation","volume":"99","author":"Wonsey","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2022121614431161400_ref20","doi-asserted-by":"crossref","first-page":"13843","DOI":"10.1074\/jbc.M808515200","article-title":"Loss of PINK1 function promotes mitophagy through effects on oxidative stress and mitochondrial fission","volume":"284","author":"Dagda","year":"2009","journal-title":"J. Biol. Chem."},{"key":"2022121614431161400_ref21","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.acthis.2017.03.001","article-title":"A simple ImageJ macro tool for analyzing mitochondrial network morphology in mammalian cell culture","volume":"119","author":"Valente","year":"2017","journal-title":"Acta Histochem."},{"key":"2022121614431161400_ref22","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1016\/j.str.2016.04.013","article-title":"Structures of human peroxiredoxin 3 suggest self-chaperoning assembly that maintains catalytic state","volume":"24","author":"Yewdall","year":"2016","journal-title":"Structure"},{"key":"2022121614431161400_ref23","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/1471-2105-8-65","article-title":"AGGRESCAN: a server for the prediction and evaluation of \u201chot spots\u201d of aggregation in polypeptides","volume":"8","author":"Conchillo-Sole","year":"2007","journal-title":"BMC Bioinformatics"},{"key":"2022121614431161400_ref24","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1080\/07391102.2020.1830177","article-title":"Mutational landscape of K-Ras substitutions at 12th position-a systematic molecular dynamics approach","volume":"40","year":"2022","journal-title":"J. Biomol. Struct. Dyn."},{"key":"2022121614431161400_ref25","doi-asserted-by":"crossref","first-page":"D935","DOI":"10.1093\/nar\/gkr996","article-title":"SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants","volume":"40","author":"De Baets","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"2022121614431161400_ref26","doi-asserted-by":"crossref","first-page":"48","DOI":"10.3389\/fcell.2017.00048","article-title":"Recent insights into the role of unfolded protein response in ER stress in health and disease","volume":"5","author":"Lindholm","year":"2017","journal-title":"Front. Cell Dev. Biol."},{"key":"2022121614431161400_ref27","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/nrm.2017.110","article-title":"The mitochondrial UPR: mechanisms, physiological functions and implications in ageing","volume":"19","author":"Shpilka","year":"2018","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2022121614431161400_ref28","doi-asserted-by":"crossref","first-page":"5600","DOI":"10.1074\/jbc.RA117.001484","article-title":"Chemical stresses fail to mimic the unfolded protein response resulting from luminal load with unfolded polypeptides","volume":"293","author":"Bergmann","year":"2018","journal-title":"J. Biol. Chem."},{"key":"2022121614431161400_ref29","doi-asserted-by":"crossref","first-page":"515","DOI":"10.3389\/fphys.2020.00515","article-title":"Mitochondrial quality control and cellular Proteostasis: two sides of the same coin","volume":"11","author":"Quiles","year":"2020","journal-title":"Front. Physiol."},{"key":"2022121614431161400_ref30","first-page":"833","article-title":"Role of PITRM1 in mitochondrial dysfunction and neurodegeneration","volume":"9","author":"Brunetti","year":"2021","journal-title":"Biomedicine"},{"key":"2022121614431161400_ref31","doi-asserted-by":"crossref","first-page":"3781","DOI":"10.3390\/ijms21113781","article-title":"Overview of mitochondrial E3 ubiquitin ligase MITOL\/MARCH5 from molecular mechanisms to diseases","volume":"21","author":"Shiiba","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"2022121614431161400_ref32","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1007\/s10545-017-0028-4","article-title":"Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)","volume":"40","author":"Diego","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"2022121614431161400_ref33","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1186\/s13023-017-0707-0","article-title":"A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)","volume":"12","author":"Serrano","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"2022121614431161400_ref34","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1046\/j.1471-4159.2003.01918.x","article-title":"Mitochondrial peroxiredoxin-3 protects hippocampal neurons from excitotoxic injury in vivo","volume":"86","author":"Hattori","year":"2003","journal-title":"J. Neurochem."},{"key":"2022121614431161400_ref35","doi-asserted-by":"crossref","DOI":"10.12688\/f1000research.7864.1","article-title":"Transporting mitochondria in neurons","volume":"5","author":"Course","year":"2016","journal-title":"F1000Res"},{"key":"2022121614431161400_ref36","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1093\/hmg\/ddz006","article-title":"Characterization of molecular mechanisms underlying the axonal Charcot-Marie-tooth neuropathy caused by MORC2 mutations","volume":"28","author":"Sancho","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"2022121614431161400_ref37","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/glia.22493","article-title":"Sh3tc2 deficiency affects neuregulin-1\/ErbB signaling","volume":"61","author":"Gouttenoire","year":"2013","journal-title":"Glia"},{"key":"2022121614431161400_ref38","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1038\/s41593-018-0235-9","article-title":"Protein misfolding, aggregation, and conformational strains in neurodegenerative diseases","volume":"21","author":"Soto","year":"2018","journal-title":"Nat. Neurosci."},{"key":"2022121614431161400_ref39","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s00441-012-1362-3","article-title":"Axonal degeneration as a therapeutic target in the CNS","volume":"349","author":"Lingor","year":"2012","journal-title":"Cell Tissue Res."},{"key":"2022121614431161400_ref40","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.jneumeth.2016.01.008","article-title":"Quantification of mitochondrial morphology in neurites of dopaminergic neurons using multiple parameters","volume":"262","author":"Wiemerslage","year":"2016","journal-title":"J. Neurosci. Methods"},{"key":"2022121614431161400_ref41","doi-asserted-by":"crossref","first-page":"2969","DOI":"10.1091\/mbc.E19-05-0284","article-title":"Mitochondrial lipid droplet formation as a detoxification mechanism to sequester and degrade excessive urothelial membranes","volume":"30","author":"Liao","year":"2019","journal-title":"Mol. Bio. Cell"},{"key":"2022121614431161400_ref42","doi-asserted-by":"crossref","first-page":"742","DOI":"10.3389\/fnins.2020.00742","article-title":"Lipid droplets in neurodegenerative disorders","volume":"14","author":"Farmer.","year":"2020","journal-title":"Front. Neurosci."},{"key":"2022121614431161400_ref43","doi-asserted-by":"crossref","first-page":"5053","DOI":"10.3390\/molecules25215053","article-title":"Friend or foe: lipid droplets as organelles for protein and lipid storage in cellular stress response, aging and disease","volume":"25","author":"Geltinger","year":"2020","journal-title":"Molecules"},{"key":"2022121614431161400_ref44","doi-asserted-by":"crossref","first-page":"17016","DOI":"10.1038\/cddiscovery.2017.16","article-title":"Clearing the outer mitochondrial membrane from harmful proteins via lipid droplets","volume":"3","author":"Bischof","year":"2017","journal-title":"Cell Death Discov."},{"key":"2022121614431161400_ref45","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.bbrc.2018.02.093","article-title":"Quaternary structure influences the peroxidase activity of peroxiredoxin 3","volume":"497","author":"Yewdall","year":"2018","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2022121614431161400_ref46","doi-asserted-by":"crossref","first-page":"7295","DOI":"10.1038\/s41598-021-86442-5","article-title":"ATF5 deficiency causes abnormal cortical development","volume":"11","author":"Umemura","year":"2021","journal-title":"Sci. Rep."},{"key":"2022121614431161400_ref47","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2021.101134","article-title":"Proteomic analysis demonstrates the role of the quality control protease LONP1 in mitochondrial protein aggregation","volume":"297","author":"Pollecker","year":"2021","journal-title":"J. Biol. Chem."},{"key":"2022121614431161400_ref48","doi-asserted-by":"crossref","DOI":"10.3389\/fnmol.2022.831116","article-title":"The unfolded protein responses in health, aging, and neurodegeneration: recent advances and future considerations","volume":"15","author":"Wodrich","year":"2022","journal-title":"Front. Mol. Neurosci."},{"key":"2022121614431161400_ref49","doi-asserted-by":"crossref","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","article-title":"Scale for the assessment and rating of ataxia: development of a new clinical scale","volume":"66","author":"Schmitz-Hubsch","year":"2006","journal-title":"Neurology"},{"key":"2022121614431161400_ref50","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1002\/acn3.51095","article-title":"Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect","volume":"7","author":"Correa-Vela","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"2022121614431161400_ref51","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1111\/cge.13719","article-title":"Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain","volume":"97","author":"S\u00e1nchez-Monteagudo","year":"2020","journal-title":"Clin. Genet."},{"key":"2022121614431161400_ref52","doi-asserted-by":"crossref","first-page":"20","DOI":"10.12688\/wellcomeopenres.10069.1","article-title":"Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN","volume":"1","author":"Fowler","year":"2016","journal-title":"Wellcome Open Res."},{"key":"2022121614431161400_ref53","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1016\/j.jmb.2007.05.022","article-title":"Inference of macromolecular assemblies from crystalline state","volume":"372","author":"Krissinel","year":"2007","journal-title":"J. Mol. Biol."},{"key":"2022121614431161400_ref54","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1073\/pnas.2235688100","article-title":"Electroporation and RNA interference in the rodent retina in vivo and in vitro","volume":"101","author":"Matsuda","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2022121614431161400_ref55","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1093\/hmg\/ddu440","article-title":"Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-tooth disease","volume":"24","author":"Pla-Martin","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"2022121614431161400_ref56","doi-asserted-by":"crossref","first-page":"264","DOI":"10.3389\/fnmol.2017.00264","article-title":"Reversible axonal dystrophy by calcium modulation in Frataxin-deficient sensory neurons of YG8R mice","volume":"10","author":"Molla","year":"2017","journal-title":"Front. Mol. Neurosci."},{"key":"2022121614431161400_ref57","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/nmeth.4170","article-title":"eC-CLEM: flexible multidimensional registration software for correlative microscopies","volume":"14","author":"Paul-Gilloteaux","year":"2017","journal-title":"Nat. Methods"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddac146\/45194491\/ddac146.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/31\/22\/3897\/47999584\/ddac146.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/31\/22\/3897\/47999584\/ddac146.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T15:32:04Z","timestamp":1671204724000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/31\/22\/3897\/6619440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,29]]},"references-count":57,"journal-issue":{"issue":"22","published-online":{"date-parts":[[2022,6,29]]},"published-print":{"date-parts":[[2022,11,10]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddac146","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,11,15]]},"published":{"date-parts":[[2022,6,29]]}}}