{"id":11387,"date":"2026-02-04T17:00:00","date_gmt":"2026-02-04T17:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=3c66a6f52015c859a46aadea54f9b41e"},"modified":"2026-02-04T23:00:00","modified_gmt":"2026-02-04T23:00:00","slug":"bi-allelic-loss-of-function-variants-in-jkamp-cause-a-neurodevelopmental-syndrome-associated-with-dysregulation-of-gpr37-trafficking","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/04\/bi-allelic-loss-of-function-variants-in-jkamp-cause-a-neurodevelopmental-syndrome-associated-with-dysregulation-of-gpr37-trafficking\/","title":{"rendered":"Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking"},"content":{"rendered":"Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome. A zebrafish jkamp knockout recapitulates key disease features. Functional studies show that JKAMP deficiency impairs folding and trafficking of the brain-enriched orphan G protein-coupled receptor GPR37, linking endoplasmic reticulum protein quality-control dysfunction to neurodevelopmental disease.","protected":false},"excerpt":{"rendered":"<p>Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome. A zebrafish jkamp knockout recapitulates key disease features. Functional studies show that JKAMP deficiency impairs folding and trafficking of the brain-enriched orphan&#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-11387","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\/11387","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=11387"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11387\/revisions"}],"predecessor-version":[{"id":11474,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11387\/revisions\/11474"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=11387"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=11387"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=11387"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}