{"id":1285,"date":"2025-10-22T02:00:00","date_gmt":"2025-10-22T02:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=ecffd6d65e8e7e073c247f30bf3329c1"},"modified":"2025-10-22T23:00:00","modified_gmt":"2025-10-22T23:00:00","slug":"bi-allelic-variants-in-the-ribosomal-protein-rps6kc1-cause-a-complex-neurodevelopmental-disorder","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/22\/bi-allelic-variants-in-the-ribosomal-protein-rps6kc1-cause-a-complex-neurodevelopmental-disorder\/","title":{"rendered":"Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder"},"content":{"rendered":"Bi-allelic variants in RPS6KC1 cause a neurodevelopmental disorder with features overlapping with Coffin-Lowry syndrome. Functional studies reveal impaired ribosomal protein synthesis, disrupted lipid signaling, and reduced mTOR activity, highlighting a critical role for RPS6KC1 in neurodevelopment via the regulation of PRDX3, SPHK1, and the mTOR\/PI3K pathway.","protected":false},"excerpt":{"rendered":"<p>Bi-allelic variants in RPS6KC1 cause a neurodevelopmental disorder with features overlapping with Coffin-Lowry syndrome. Functional studies reveal impaired ribosomal protein synthesis, disrupted lipid signaling, and reduced mTOR activity, highlighting &#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,41],"tags":[48],"class_list":["post-1285","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-american-journal-of-human-genetics","tag-amjhumgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1285","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1285"}],"version-history":[{"count":23,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1285\/revisions"}],"predecessor-version":[{"id":2420,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1285\/revisions\/2420"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1285"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1285"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1285"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}