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Here, we report the analysis of the first genetic model of CEDNIK in zebrafish. Strikingly, homozygous\n                    <jats:italic>snap29<\/jats:italic>\n                    mutant larvae display CEDNIK-like features, such as microcephaly and skin defects. Consistent with Snap29 role in membrane fusion during autophagy, we observe accumulation of the autophagy markers p62 and LC3, and formation of aberrant multilamellar organelles and mitochondria. Importantly, we find high levels of apoptotic cell death during early development that might play a yet uncharacterized role in CEDNIK pathogenesis. Mutant larvae also display mouth opening problems, feeding impairment and swimming difficulties. These alterations correlate with defective trigeminal nerve formation and excess axonal branching. Since the paralog Snap25 is known to promote axonal branching, Snap29 might act in opposition with, or modulate Snap25 activity during neurodevelopment. Our vertebrate genetic model of CEDNIK extends the description\n                    <jats:italic>in vivo<\/jats:italic>\n                    of the multisystem defects due to loss of Snap29 and could provide the base to test compounds that might ameliorate traits of the disease.\n                  <\/jats:p>","DOI":"10.1038\/s41598-018-37780-4","type":"journal-article","created":{"date-parts":[[2019,2,4]],"date-time":"2019-02-04T06:04:09Z","timestamp":1549260249000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development"],"prefix":"10.1038","volume":"9","author":[{"given":"Valeria","family":"Mastrodonato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina","family":"Beznoussenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Mironov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Deflorian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Vaccari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,2,4]]},"reference":[{"key":"37780_CR1","doi-asserted-by":"publisher","first-page":"3463","DOI":"10.1091\/mbc.e07-03-0193","volume":"18","author":"TH Kloepper","year":"2007","unstructured":"Kloepper, T. 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