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In this study, we show that the heterozygous loss of\n                    <jats:italic>SYT13<\/jats:italic>\n                    is sufficient to trigger a neurodegenerative phenotype resembling those observed in ALS and SMA. SYT13\n                    <jats:sup>+\/\u2212<\/jats:sup>\n                    hiPSC-derived MNs displayed a progressive manifestation of typical neurodegenerative hallmarks such as loss of synaptic contacts and accumulation of aberrant aggregates. Moreover, analysis of the SYT13\n                    <jats:sup>+\/\u2212<\/jats:sup>\n                    transcriptome revealed a significant impairment in biological mechanisms involved in motoneuron specification and spinal cord differentiation. This transcriptional portrait also strikingly correlated with ALS signatures, displaying a significant convergence toward the expression of pro-apoptotic and pro-inflammatory genes, which are controlled by the transcription factor TP53. Our data show for the first time that the heterozygous loss of a single member of the synaptotagmin family,\n                    <jats:italic>SYT13<\/jats:italic>\n                    , is sufficient to trigger a series of abnormal alterations leading to MN sufferance, thus revealing novel insights into the selective vulnerability of this cell population.\n                  <\/jats:p>","DOI":"10.1038\/s41419-024-06957-3","type":"journal-article","created":{"date-parts":[[2024,8,3]],"date-time":"2024-08-03T08:02:23Z","timestamp":1722672143000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons"],"prefix":"10.1038","volume":"15","author":[{"given":"Johannes","family":"Lehmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amr","family":"Aly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Steffke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Fabbio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentin","family":"Mayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Dikwella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kareen","family":"Halablab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9935-6899","authenticated-orcid":false,"given":"Francesco","family":"Roselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Seiffert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias M.","family":"Boeckers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Brenner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edor","family":"Kabashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Medhanie","family":"Mulaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1496-4436","authenticated-orcid":false,"given":"Ritchie","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8266-4913","authenticated-orcid":false,"given":"Alberto","family":"Catanese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,3]]},"reference":[{"key":"6957_CR1","doi-asserted-by":"publisher","first-page":"a024125","DOI":"10.1101\/cshperspect.a024125","volume":"8","author":"M Ghasemi","year":"2018","unstructured":"Ghasemi M, Brown RH. 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Experiments with animal models were performed according to the ethical approvals Nr. o.103-17 and o.217-9.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}}],"article-number":"560"}}