{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T05:57:11Z","timestamp":1792130231765,"version":"4.4.0"},"reference-count":63,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T00:00:00Z","timestamp":1674000000000},"content-version":"vor","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100002108","name":"Friedreich Ataxia Research Alliance","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100002108","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Belgian National Scientific Research Funds"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Friedreich ataxia is an autosomal recessive multisystem disorder with prominent neurological manifestations and cardiac involvement. The disease is caused by large GAA expansions in the first intron of the FXN gene, encoding the mitochondrial protein frataxin, resulting in downregulation of gene expression and reduced synthesis of frataxin. The selective loss of proprioceptive neurons is a hallmark of Friedreich ataxia, but the cause of the specific vulnerability of these cells is still unknown. We herein perform an in vitro characterization of human induced pluripotent stem cell-derived sensory neuronal cultures highly enriched for primary proprioceptive neurons. We employ neurons differentiated from healthy donors, Friedreich ataxia patients and Friedreich ataxia sibling isogenic control lines. The analysis of the transcriptomic and proteomic profile suggests an impairment of cytoskeleton organization at the growth cone, neurite extension and, at later stages of maturation, synaptic plasticity. Alterations in the spiking profile of tonic neurons are also observed at the electrophysiological analysis of mature neurons. Despite the reversal of the repressive epigenetic state at the FXN locus and the restoration of FXN expression, isogenic control neurons retain many features of Friedreich ataxia neurons. Our study suggests the existence of abnormalities affecting proprioceptors in Friedreich ataxia, particularly their ability to extend towards their targets and transmit proper synaptic signals. It also highlights the need for further investigations to better understand the mechanistic link between FXN silencing and proprioceptive degeneration in Friedreich ataxia.<\/jats:p>","DOI":"10.1093\/braincomms\/fcad007","type":"journal-article","created":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T15:31:45Z","timestamp":1674055905000},"source":"Crossref","is-referenced-by-count":16,"title":["Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties"],"prefix":"10.1093","volume":"5","author":[{"given":"Chiara","family":"Dionisi","sequence":"first","affiliation":[{"name":"Laboratory of Experimental Neurology, Universit\u00e9 Libre de Bruxelles (ULB) , 1070 Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Chazalon","sequence":"additional","affiliation":[{"name":"Laboratory of Neurophysiology, ULB-Neuroscience Institute (UNI), Universit\u00e9 Libre de Bruxelles (ULB) , 1070 Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myriam","family":"Rai","sequence":"additional","affiliation":[{"name":"Laboratory of Experimental Neurology, Universit\u00e9 Libre de Bruxelles (ULB) , 1070 Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7604-3814","authenticated-orcid":false,"given":"C\u00e9line","family":"Keime","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire UMR 7104 CNRS-UdS \/ INSERM U1258, Universit\u00e9 de Strasbourg , 67404 Illkirch Cedex, Strasbourg , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Imbault","sequence":"additional","affiliation":[{"name":"Institut de Recherche Interdisciplinaire en Biologie Humaine et Mol\u00e9culaire (IRIBHM), Universit\u00e9 Libre de Bruxelles (ULB) , 1070 Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Communi","sequence":"additional","affiliation":[{"name":"Institut de Recherche Interdisciplinaire en Biologie Humaine et Mol\u00e9culaire (IRIBHM), Universit\u00e9 Libre de Bruxelles (ULB) , 1070 Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Puccio","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire UMR 7104 CNRS-UdS \/ INSERM U1258, Universit\u00e9 de Strasbourg , 67404 Illkirch Cedex, Strasbourg , France"},{"name":"Institut NeuroMyoGene (INMG) UMR5310\u2014INSERM U1217, Facult\u00e9 de M\u00e9decine, Universit\u00e9 Claude Bernard\u2014Lyon I , 69008 Lyon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge N","family":"Schiffmann","sequence":"additional","affiliation":[{"name":"Laboratory of Neurophysiology, ULB-Neuroscience Institute (UNI), Universit\u00e9 Libre de Bruxelles (ULB) , 1070 Brussels , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5230-5787","authenticated-orcid":false,"given":"Massimo","family":"Pandolfo","sequence":"additional","affiliation":[{"name":"Laboratory of Experimental Neurology, Universit\u00e9 Libre de Bruxelles (ULB) , 1070 Brussels , Belgium"},{"name":"Department of Neurology and Neurosurgery, McGill University , Montreal, Quebec H3A 2B4 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,1,18]]},"reference":[{"key":"2023020206251927400_fcad007-B1","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich\u2019s ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"issue":"1","key":"2023020206251927400_fcad007-B2","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/1868-7083-4-2","article-title":"Is Friedreich ataxia an epigenetic disorder?","volume":"4","author":"Kumari","year":"2012","journal-title":"Clin Epigenet"},{"issue":"25","key":"2023020206251927400_fcad007-B3","doi-asserted-by":"crossref","first-page":"25943","DOI":"10.1074\/jbc.C400107200","article-title":"Frataxin-mediated iron delivery to ferrochelatase in the final step of heme 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