{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T07:53:37Z","timestamp":1782978817933,"version":"3.54.5"},"reference-count":64,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T00:00:00Z","timestamp":1614124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by a polyglutamine repeat expansion in the <jats:italic>ATXN7<\/jats:italic> gene. Patients with this disease suffer from a degeneration of their cerebellar Purkinje neurons and retinal photoreceptors that result in a progressive ataxia and loss of vision. As with many neurodegenerative diseases, studies of pathogenesis have been hindered by a lack of disease-relevant models. To this end, we have generated induced pluripotent stem cells (iPSCs) from a cohort of SCA7 patients in South Africa. First, we differentiated the SCA7 affected iPSCs into neurons which showed evidence of a transcriptional phenotype affecting components of STAGA (<jats:italic>ATXN7<\/jats:italic> and <jats:italic>KAT2A<\/jats:italic>) and the heat shock protein pathway (<jats:italic>DNAJA1<\/jats:italic> and <jats:italic>HSP70<\/jats:italic>). We then performed electrophysiology on the SCA7 iPSC-derived neurons and found that these cells show features of functional aberrations. Lastly, we were able to differentiate the SCA7 iPSCs into retinal photoreceptors that also showed similar transcriptional aberrations to the SCA7 neurons. Our findings give technical insights on how iPSC-derived neurons and photoreceptors can be derived from SCA7 patients and demonstrate that these cells express molecular and electrophysiological differences that may be indicative of impaired neuronal health. We hope that these findings will contribute towards the ongoing efforts to establish the cell-derived models of neurodegenerative diseases that are needed to develop patient-specific treatments.<\/jats:p>","DOI":"10.1371\/journal.pone.0247434","type":"journal-article","created":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T18:39:38Z","timestamp":1614191978000},"page":"e0247434","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":11,"title":["Molecular and electrophysiological features of spinocerebellar ataxia type seven in induced pluripotent stem cells"],"prefix":"10.1371","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3107-7871","authenticated-orcid":true,"given":"Richard J.","family":"Burman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren M.","family":"Watson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle C.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8266-3128","authenticated-orcid":true,"given":"Joseph V.","family":"Raimondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8332-8911","authenticated-orcid":true,"given":"Robea","family":"Ballo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Scholefield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally A.","family":"Cowley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J. A.","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan H.","family":"Kidson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie J.","family":"Greenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2021,2,24]]},"reference":[{"key":"pone.0247434.ref001","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1146\/annurev.neuro.29.051605.113042","article-title":"Trinucleotide repeat disorders","volume":"30","author":"HT Orr","year":"2007","journal-title":"Annu Rev Neurosci"},{"issue":"8","key":"pone.0247434.ref002","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1212\/WNL.44.8.1441","article-title":"Autosomal dominant cerebellar ataxia with retinal degeneration Clinical, neuropathologic, and genetic analysis of a large kindred","volume":"44","author":"L Gouw","year":"1994","journal-title":"Neurology"},{"issue":"2","key":"pone.0247434.ref003","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1007\/s12311-008-0027-y","article-title":"Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration.","volume":"7","author":"GA Garden","year":"2008","journal-title":"Cerebellum"},{"issue":"24","key":"pone.0247434.ref004","doi-asserted-by":"crossref","first-page":"8472","DOI":"10.1073\/pnas.0503505102","article-title":"Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration","volume":"102","author":"VB Palhan","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"issue":"5","key":"pone.0247434.ref005","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1093\/hmg\/ddi483","article-title":"Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program","volume":"15","author":"G Abou-Sleymane","year":"2006","journal-title":"Hum Mol Genet"},{"issue":"2","key":"pone.0247434.ref006","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.neuint.2009.11.003","article-title":"Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation","volume":"56","author":"A-H Chou","year":"2010","journal-title":"Neurochem Int"},{"issue":"3","key":"pone.0247434.ref007","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.nbd.2005.04.018","article-title":"A role for both wild-type and expanded ataxin-7 in transcriptional regulation","volume":"20","author":"A-L Str\u00f6m","year":"2005","journal-title":"Neurobiol Dis"},{"issue":"5","key":"pone.0247434.ref008","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1016\/j.celrep.2019.01.028","article-title":"Metabolic and organelle morphology defects in mice and human patients define spinocerebellar ataxia type 7 as a mitochondrial disease","volume":"26","author":"JM Ward","year":"2019","journal-title":"Cell Rep"},{"issue":"4","key":"pone.0247434.ref009","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/j.neuron.2019.11.019","article-title":"Nicotinamide pathway-dependent SIRT1 activation restores calcium homeostasis to achieve neuroprotection in spinocerebellar ataxia type 7","volume":"105","author":"CA Stoyas","year":"2020","journal-title":"Neuron"},{"issue":"12","key":"pone.0247434.ref010","doi-asserted-by":"crossref","first-page":"132","DOI":"10.3390\/genes7120132","article-title":"Mutant CAG repeats effectively targeted by RNA interference in SCA7 cells.","volume":"7","author":"A Fiszer","year":"2016","journal-title":"Genes"},{"key":"pone.0247434.ref011","first-page":"1","article-title":"Molecular targets and therapeutic strategies in spinocerebellar ataxia type 7.","author":"A Niewiadomska-Cimicka","year":"2019","journal-title":"Neurotherapeutics"},{"key":"pone.0247434.ref012","first-page":"1","article-title":"Modeling Polyglutamine Expansion Diseases with Induced Pluripotent Stem Cells.","author":"S Naphade","year":"2019","journal-title":"Neurotherapeutics"},{"issue":"8","key":"pone.0247434.ref013","doi-asserted-by":"crossref","first-page":"683","DOI":"10.7196\/SAMJ.5521","article-title":"Inherited polyglutamine spinocerebellar ataxias in South Africa","volume":"102","author":"D Smith","year":"2012","journal-title":"S Afr Med J"},{"issue":"5","key":"pone.0247434.ref014","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1111\/j.1399-0004.2006.00680.x","article-title":"Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics","volume":"70","author":"J Greenberg","year":"2006","journal-title":"Clin Genet"},{"issue":"1","key":"pone.0247434.ref015","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.jns.2015.04.053","article-title":"Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7","volume":"354","author":"DC Smith","year":"2015","journal-title":"J Neurol Sci"},{"issue":"9","key":"pone.0247434.ref016","doi-asserted-by":"crossref","first-page":"e7232","DOI":"10.1371\/journal.pone.0007232","article-title":"Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype.","volume":"4","author":"J Scholefield","year":"2009","journal-title":"PloS ONE."},{"issue":"12","key":"pone.0247434.ref017","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1038\/ejhg.2014.39","article-title":"Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts","volume":"22","author":"J Scholefield","year":"2014","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"pone.0247434.ref018","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.cell.2006.07.024","article-title":"Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors","volume":"126","author":"K Takahashi","year":"2006","journal-title":"Cell"},{"issue":"5","key":"pone.0247434.ref019","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.cell.2007.11.019","article-title":"Induction of pluripotent stem cells from adult human fibroblasts by defined factors","volume":"131","author":"K Takahashi","year":"2007","journal-title":"Cell"},{"key":"pone.0247434.ref020","first-page":"383","volume-title":"Specialized Cells.","author":"R. Freshney","year":"2000","edition":"6"},{"issue":"6","key":"pone.0247434.ref021","doi-asserted-by":"crossref","first-page":"4760","DOI":"10.1074\/jbc.M110.183780","article-title":"Development of defective and persistent Sendai virus vector a unique gene delivery\/expression system ideal for cell reprogramming","volume":"286","author":"K Nishimura","year":"2011","journal-title":"J Biol Chem"},{"issue":"5","key":"pone.0247434.ref022","doi-asserted-by":"crossref","first-page":"410","DOI":"10.2174\/156652312802762518","article-title":"Development of Sendai virus vectors and their potential applications in gene therapy and regenerative medicine","volume":"12","author":"M Nakanishi","year":"2012","journal-title":"Curr Gene Ther"},{"key":"pone.0247434.ref023","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/978-1-61779-201-4_8","article-title":"Traditional Human Embryonic Stem Cell Culture.","volume":"767","author":"P Schwartz","year":"2011","journal-title":"Methods Mol Biol"},{"issue":"2","key":"pone.0247434.ref024","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/nprot.2012.154","article-title":"Characterization of pluripotent stem cells","volume":"8","author":"M Mart\u00ed","year":"2013","journal-title":"Nat Protoc"},{"issue":"20","key":"pone.0247434.ref025","doi-asserted-by":"crossref","first-page":"8299","DOI":"10.1073\/pnas.1014041108","article-title":"Rapid induction and long-term self-renewal of primitive neural precursors from human embryonic stem cells by small molecule inhibitors","volume":"108","author":"W Li","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"issue":"2","key":"pone.0247434.ref026","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/stem.1268","article-title":"Brief report: Self\u2010organizing neuroepithelium from human pluripotent stem cells facilitates derivation of photoreceptors","volume":"31","author":"C Boucherie","year":"2013","journal-title":"Stem Cells"},{"issue":"1","key":"pone.0247434.ref027","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1186\/1471-2105-6-62","article-title":"A standard curve based method for relative real time PCR data processing","volume":"6","author":"A Larionov","year":"2005","journal-title":"BMC Bioinformatics"},{"issue":"5","key":"pone.0247434.ref028","doi-asserted-by":"crossref","first-page":"2730","DOI":"10.1074\/jbc.M506751200","article-title":"Ataxin-7 can export from the nucleus via a conserved exportin-dependent signal","volume":"281","author":"J Taylor","year":"2006","journal-title":"J Biol Chem"},{"issue":"4","key":"pone.0247434.ref029","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1373\/clinchem.2008.112797","article-title":"The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments","volume":"55","author":"SA Bustin","year":"2009","journal-title":"Clin Chem"},{"issue":"3","key":"pone.0247434.ref030","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S0896-6273(02)01190-X","article-title":"SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity","volume":"37","author":"S-Y Yoo","year":"2003","journal-title":"Neuron"},{"issue":"4","key":"pone.0247434.ref031","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1016\/j.bbrc.2005.06.207","article-title":"Decreased expression of Hsp27 and Hsp70 in transformed lymphoblastoid cells from patients with spinocerebellar ataxia type 7","volume":"334","author":"H-F Tsai","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"issue":"1","key":"pone.0247434.ref032","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.nbd.2011.12.042","article-title":"The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington\u2019s disease patients demonstrates mutation related enhanced lysosomal activity","volume":"46","author":"S Camnasio","year":"2012","journal-title":"Neurobiol Dis"},{"issue":"7378","key":"pone.0247434.ref033","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1038\/nature10671","article-title":"Excitation-induced ataxin-3 aggregation in neurons from patients with Machado\u2013Joseph disease","volume":"480","author":"P Koch","year":"2011","journal-title":"Nature"},{"issue":"8","key":"pone.0247434.ref034","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1093\/cercor\/bhn206","article-title":"Electrical excitability of early neurons in the human cerebral cortex during the second trimester of gestation","volume":"19","author":"AR Moore","year":"2008","journal-title":"Cereb Cortex"},{"issue":"34","key":"pone.0247434.ref035","doi-asserted-by":"crossref","first-page":"12543","DOI":"10.1073\/pnas.0404700101","article-title":"Derivation of midbrain dopamine neurons from human embryonic stem cells","volume":"101","author":"AL Perrier","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"issue":"8","key":"pone.0247434.ref036","doi-asserted-by":"crossref","first-page":"e6606","DOI":"10.1371\/journal.pone.0006606","article-title":"A novel combination of factors, termed SPIE, which promotes dopaminergic neuron differentiation from human embryonic stem cells","volume":"4","author":"T Vazin","year":"2009","journal-title":"PloS ONE"},{"issue":"10","key":"pone.0247434.ref037","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1089\/scd.2010.0501","article-title":"Physiological properties of neurons derived from human embryonic stem cells using a dibutyryl cyclic AMP-based protocol","volume":"20","author":"GS Belinsky","year":"2011","journal-title":"Stem Cells Dev"},{"issue":"1","key":"pone.0247434.ref038","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.scr.2013.09.014","article-title":"Patch-clamp recordings and calcium imaging followed by single-cell PCR reveal the developmental profile of 13 genes in iPSC-derived human neurons","volume":"12","author":"GS Belinsky","year":"2014","journal-title":"Stem Cell Res"},{"issue":"3","key":"pone.0247434.ref039","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1152\/physrev.00017.2004","article-title":"Ion channel development, spontaneous activity, and activity-dependent development in nerve and muscle cells","volume":"85","author":"WJ Moody","year":"2005","journal-title":"Physiol Rev"},{"issue":"6","key":"pone.0247434.ref040","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/j.neuron.2010.08.022","article-title":"SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776","volume":"67","author":"L Duvick","year":"2010","journal-title":"Neuron"},{"issue":"2","key":"pone.0247434.ref041","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1093\/hmg\/dds427","article-title":"Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2","volume":"22","author":"ST Hansen","year":"2012","journal-title":"Hum Mol Genet"},{"issue":"4","key":"pone.0247434.ref042","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1007\/s13311-014-0289-7","article-title":"The role for alterations in neuronal activity in the pathogenesis of polyglutamine repeat disorders.","volume":"11","author":"R Chopra","year":"2014","journal-title":"Neurotherapeutics"},{"issue":"1","key":"pone.0247434.ref043","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/s12311-017-0905-2","article-title":"Self-organized cerebellar tissue from human pluripotent stem cells and disease modeling with patient-derived iPSCs","volume":"17","author":"K. Muguruma","year":"2018","journal-title":"Cerebellum"},{"issue":"4","key":"pone.0247434.ref044","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1007\/s12311-017-0913-2","article-title":"A simplified method for generating Purkinje cells from human-induced pluripotent stem cells","volume":"17","author":"LM Watson","year":"2018","journal-title":"Cerebellum"},{"issue":"13","key":"pone.0247434.ref045","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1093\/hmg\/8.13.2473","article-title":"Very large (CAG) n DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.","volume":"8","author":"DG Monckton","year":"1999","journal-title":"Hum Mol Genet"},{"issue":"5","key":"pone.0247434.ref046","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1016\/j.cell.2009.02.013","article-title":"Parkinson\u2019s disease patient-derived induced pluripotent stem cells free of viral reprogramming factors","volume":"136","author":"F Soldner","year":"2009","journal-title":"Cell"},{"issue":"7356","key":"pone.0247434.ref047","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1038\/nature10317","article-title":"Molecular chaperones in protein folding and proteostasis","volume":"475","author":"FU Hartl","year":"2011","journal-title":"Nature"},{"issue":"31","key":"pone.0247434.ref048","doi-asserted-by":"crossref","first-page":"10541","DOI":"10.1523\/JNEUROSCI.0146-10.2010","article-title":"Quantitative relationships between huntingtin levels, polyglutamine length, inclusion body formation, and neuronal death provide novel insight into huntington\u2019s disease molecular pathogenesis","volume":"30","author":"J Miller","year":"2010","journal-title":"J Neurosci"},{"issue":"7010","key":"pone.0247434.ref049","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1038\/nature02998","article-title":"Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death","volume":"431","author":"M Arrasate","year":"2004","journal-title":"Nature"},{"issue":"5","key":"pone.0247434.ref050","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1111\/j.1460-9568.2010.07352.x","article-title":"Levels of DNAJB family members (HSP40) correlate with disease onset in patients with spinocerebellar ataxia type 3.","volume":"32","author":"M Zijlstra","year":"2010","journal-title":"Eur J Neurosci"},{"issue":"6","key":"pone.0247434.ref051","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/S0896-6273(01)00422-6","article-title":"Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7","volume":"31","author":"AR La Spada","year":"2001","journal-title":"Neuron"},{"issue":"10","key":"pone.0247434.ref052","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/j.tig.2006.07.010","article-title":"Transcriptional alterations and chromatin remodeling in polyglutamine diseases","volume":"22","author":"D Helmlinger","year":"2006","journal-title":"Trends Genet"},{"issue":"17","key":"pone.0247434.ref053","doi-asserted-by":"crossref","first-page":"3883","DOI":"10.1093\/hmg\/dds216","article-title":"Early transcriptional changes linked to naturally occurring Huntington\u2019s disease mutations in neural derivatives of human embryonic stem cells","volume":"21","author":"M Feyeux","year":"2012","journal-title":"Hum Mol Genet"},{"issue":"6","key":"pone.0247434.ref054","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1016\/j.neuron.2011.05.027","article-title":"CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA","volume":"70","author":"BL Sopher","year":"2011","journal-title":"Neuron"},{"issue":"2","key":"pone.0247434.ref055","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/j.expneurol.2010.05.011","article-title":"Polyglutamine-expanded ataxin-7 upregulates Bax expression by activating p53 in cerebellar and inferior olivary neurons","volume":"224","author":"H-L Wang","year":"2010","journal-title":"Exp Neurol"},{"issue":"17","key":"pone.0247434.ref056","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1093\/hmg\/11.17.1927","article-title":"Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington\u2019s disease mouse models reveal context-independent effects","volume":"11","author":"R Luthi-Carter","year":"2002","journal-title":"Hum Mol Genet"},{"issue":"11","key":"pone.0247434.ref057","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/nsmb.2902","article-title":"Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7","volume":"21","author":"JY Tan","year":"2014","journal-title":"Nat Struct Mol Biol"},{"issue":"2","key":"pone.0247434.ref058","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1093\/hmg\/ddr474","article-title":"Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model","volume":"21","author":"YC Chen","year":"2011","journal-title":"Hum Mol Genet"},{"key":"pone.0247434.ref059","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1042\/bss0730155","article-title":"Both normal and polyglutamine-expanded ataxin-7 are components of TFTC-type GCN5 histone acetyltransferase-containing complexes","volume":"73","author":"D Helmlinger","year":"2006","journal-title":"Biochem Soc Symp"},{"issue":"10","key":"pone.0247434.ref060","doi-asserted-by":"crossref","first-page":"e177","DOI":"10.1371\/journal.pgen.0030177","article-title":"Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila.","volume":"3","author":"J Bilen","year":"2007","journal-title":"PLoS Genet"},{"issue":"1","key":"pone.0247434.ref061","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.neuron.2006.09.025","article-title":"Drosophila in the study of neurodegenerative disease","volume":"52","author":"JL Marsh","year":"2006","journal-title":"Neuron"},{"issue":"3","key":"pone.0247434.ref062","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.stemcr.2017.01.022","article-title":"Reversal of phenotypic abnormalities by CRISPR\/Cas9-mediated gene correction in Huntington disease patient-derived induced pluripotent stem cells","volume":"8","author":"X Xu","year":"2017","journal-title":"Stem cell reports"},{"issue":"5","key":"pone.0247434.ref063","doi-asserted-by":"crossref","first-page":"1854","DOI":"10.3390\/ijms21051854","article-title":"Generation of New Isogenic Models of Huntington\u2019s Disease Using CRISPR-Cas9 Technology","volume":"21","author":"M Dabrowska","year":"2020","journal-title":"International journal of molecular sciences"},{"issue":"16","key":"pone.0247434.ref064","doi-asserted-by":"crossref","first-page":"8275","DOI":"10.1093\/nar\/gky548","article-title":"Efficient CRISPR\/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells","volume":"46","author":"S Dastidar","year":"2018","journal-title":"Nucleic acids research"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0247434","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T18:40:28Z","timestamp":1614192028000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0247434"}},"subtitle":[],"editor":[{"given":"Joseph","family":"Najbauer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2021,2,24]]},"references-count":64,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,2,24]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0247434","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,24]]}}}