{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T17:25:40Z","timestamp":1771953940349,"version":"3.50.1"},"reference-count":12,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>The patatin-like protein family plays an important role in various biological functions including lipid homeostasis, cellular growth, and signaling. Conserved across species, the patatin domain is shared by all 9 members of the PNPLA family without redundancy in the coding sequences. The defective function of &lt;i&gt;PNPLA2&lt;\/i&gt;, &lt;i&gt;PNPLA6&lt;\/i&gt;, and &lt;i&gt;PNPLA9&lt;\/i&gt; are known to cause mitochondrial-related neurodegeneration. Recently, &lt;i&gt;PNPLA8&lt;\/i&gt; has been associated with mitochondrial myopathy and poor weight gain with lactic acidosis in 3 unrelated families. Using whole-exome sequencing, we identified a homozygous novel missense variation c.1874A&amp;#x3e;G in the patatin domain of &lt;i&gt;PNPLA8&lt;\/i&gt;. The patient had prenatal-onset severe and progressive neurodegeneration with mortality in infancy. <\/jats:p>","DOI":"10.1159\/000513524","type":"journal-article","created":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T21:06:31Z","timestamp":1617051991000},"page":"174-178","source":"Crossref","is-referenced-by-count":13,"title":["Homozygous Missense Variation in &lt;b&gt;&lt;i&gt;PNPLA8&lt;\/i&gt;&lt;\/b&gt; Causes Prenatal-Onset Severe Neurodegeneration"],"prefix":"10.1159","volume":"12","author":[{"given":"Suzena","family":"Masih","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amita","family":"Moirangthem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,3,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1951"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.R800082-JLR200"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9010274"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.055194"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3390\/biom9120807"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.8"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31095"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2018.06.018"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6055-4"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22743"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38687"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/hep.31161"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/513524","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/513524","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:15:15Z","timestamp":1745424915000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000513524"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":12,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,6,3]]},"published-print":{"date-parts":[[2021,6,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000513524","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}