{"id":1715,"date":"2024-03-05T13:23:25","date_gmt":"2024-03-05T05:23:25","guid":{"rendered":"http:\/\/www.hngenetics.org\/?p=1715"},"modified":"2024-03-05T13:24:31","modified_gmt":"2024-03-05T05:24:31","slug":"%e4%b8%ad%e5%8d%97%e5%a4%a7%e5%ad%a6%e6%9d%8e%e5%ae%b6%e5%a4%a7%e6%95%99%e6%8e%88%e5%90%88%e4%bd%9c%e5%8f%91%e7%8e%b0cntnap2%e7%aa%81%e5%8f%98%e5%af%bc%e8%87%b4%e5%ad%a4%e7%8b%ac%e7%97%87%e7%9a%84","status":"publish","type":"post","link":"http:\/\/www.hngenetics.org\/?p=1715","title":{"rendered":"\u4e2d\u5357\u5927\u5b66\u674e\u5bb6\u5927\u6559\u6388\u5408\u4f5c\u53d1\u73b0CNTNAP2\u7a81\u53d8\u5bfc\u81f4\u5b64\u72ec\u75c7\u7684\u65b0\u673a\u5236"},"content":{"rendered":"\n<p>2024\u5e743\u67081\u65e5\uff0c\u56fd\u9645\u6743\u5a01\u671f\u520aSignal Transduction and Targeted Therapy\uff08\u4fe1\u53f7\u8f6c\u5bfc\u4e0e\u9776\u5411\u6cbb\u7597\uff0c\u5f71\u54cd\u56e0\u5b50: 39.3\uff09\u53d1\u8868\u4e86\u9898\u4e3a\u201cContactin-associated protein-like 2 (CNTNAP2) mutations impair the essential \u03b1-secretase cleavages, leading to autism-like phenotypes\u201d\u7684\u7814\u7a76\u8bba\u6587\u3002\u5728\u672c\u7814\u7a76\u4e2d\uff0c\u6765\u81ea\u74ef\u6c5f\u5b9e\u9a8c\u5ba4\/\u6e29\u5dde\u533b\u79d1\u5927\u5b66\u3001\u4e2d\u5357\u5927\u5b66\u3001\u9996\u90fd\u533b\u79d1\u5927\u5b66\u7684\u79d1\u7814\u4eba\u5458\u5408\u4f5c\u53d1\u73b0\u03b1-\u5206\u6ccc\u9176\uff08ADAM10\/17\uff09\u662f\u526a\u5207\u5b64\u72ec\u75c7\u76f8\u5173CNTNAP2\u86cb\u767d\u4ee5\u5b9e\u73b0\u5176\u751f\u7406\u529f\u80fd\u6240\u5fc5\u9700\u7684\u86cb\u767d\u9176\uff1bCNTNAP2\u57fa\u56e0\u7a81\u53d8\u5f71\u54cd\u5176\u03b1-\u5206\u6ccc\u9176\u526a\u5207\u662f\u5bfc\u81f4\u5b64\u72ec\u75c7\u7684\u91cd\u8981\u673a\u5236\u4e4b\u4e00\u3002\u8be5\u7814\u7a76\u6210\u679c\u63d0\u793aCNTNAP2\u9176\u5207\u53ca\u5176\u4ea7\u7269\u4e3a\u5b64\u72ec\u75c7\u836f\u7269\u5f00\u53d1\u7684\u65b0\u9776\u70b9\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"865\" height=\"306\" src=\"http:\/\/www.hngenetics.org\/wp-content\/uploads\/2024\/03\/111.png\" alt=\"\" class=\"wp-image-1716\" srcset=\"http:\/\/www.hngenetics.org\/wp-content\/uploads\/2024\/03\/111.png 865w, http:\/\/www.hngenetics.org\/wp-content\/uploads\/2024\/03\/111-300x106.png 300w, http:\/\/www.hngenetics.org\/wp-content\/uploads\/2024\/03\/111-768x272.png 768w\" sizes=\"auto, (max-width: 865px) 100vw, 865px\" \/><\/figure><\/div>\n\n\n<p>\u5b64\u72ec\u75c7\uff0c\u53c8\u79f0\u81ea\u95ed\u75c7\uff0c\u662f\u4e00\u79cd\u6700\u5e38\u89c1\u7684\u513f\u7ae5\u8111\u53d1\u80b2\u969c\u788d\u6027\u75be\u75c5\u3002CNTNAP2\u662f\u5b64\u72ec\u75c7\u7684\u5173\u952e\u81f4\u75c5\u57fa\u56e0\u4e4b\u4e00\uff1bCNTNAP2\u57fa\u56e0\u6572\u9664\u5c0f\u9f20\u5448\u73b0\u51fa\u5178\u578b\u7684\u5b64\u72ec\u75c7\u6837\u884c\u4e3a\uff0c\u5305\u62ec\u793e\u4f1a\u6d3b\u52a8\u51cf\u5c11\u548c\u91cd\u590d\u523b\u677f\u884c\u4e3a\uff0c\u540c\u65f6\u4f34\u968f\u7740\u795e\u7ecf\u53d1\u80b2\u5f02\u5e38\u3002\u672c\u5408\u4f5c\u56e2\u961f\u5148\u524d\u62a5\u9053\u4e86CNTNAP2\u53ef\u88ab\u963f\u5c14\u8328\u6d77\u9ed8\u75c5\u76f8\u5173\u7684\u03b3-\u5206\u6ccc\u9176\u526a\u5207\uff0c\u5176\u751f\u6210\u7684CNTNAP2\u7ec6\u80de\u5185\u7ed3\u6784\u86cb\u767d\uff08CNTNAP2 intracellular domain\uff0cCICD\uff09\u53ef\u6539\u5584\u5b64\u72ec\u75c7\u6837\u8868\u578b\u3002\u7136\u800c\uff0c\u5bf9\u4e8eCNTNAP2\u7684\u590d\u6742\u4ee3\u8c22\u8fc7\u7a0b\u53ca\u5176\u5f02\u5e38\u5bfc\u81f4\u5b64\u72ec\u75c7\u7684\u81f4\u75c5\u673a\u7406\u5c1a\u4e0d\u5b8c\u5168\u660e\u786e\u3002<\/p>\n\n\n\n<p>\u5728\u6700\u65b0\u7684\u7814\u7a76\u4e2d\uff0c\u8be5\u5408\u4f5c\u56e2\u961f\u53d1\u73b0\u5728\u03b3-\u5206\u6ccc\u9176\u526a\u5207\u4e4b\u524d\u9700\u8981\u5176\u4ed6\u86cb\u767d\u9176\u7684\u5904\u7406\u3002Furin\u548c\u03b1-\u5206\u6ccc\u9176\uff08ADAM10\/17\uff09\u5206\u522b\u5bf9CNTNAP2\u8fdb\u884c\u86cb\u767d\u9176\u89e3\uff0c\u5176\u4e2dCNTNAP2\u7ecfADAM10\u526a\u5207\u4ea7\u751fC79\u662f\u540e\u7eed\u03b3-\u5206\u6ccc\u9176\u526a\u5207\u7684\u5173\u952e\u6b65\u9aa4\u3002\u5b64\u72ec\u75c7\u60a3\u8005\u4e2d\u53d1\u73b0\u7684I1254T\u7a81\u53d8\u6291\u5236\u4e86\u03b1-\u5206\u6ccc\u9176\u5bf9CNTNAP2\u7684\u526a\u5207\uff0c\u81f4\u4f7fC79\u751f\u6210\u6c34\u5e73\u663e\u8457\u964d\u4f4e\uff1bCNTNAP2-I1254T\u57fa\u56e0\u6572\u5165\u5c0f\u9f20\u5448\u73b0\u51fa\u5b64\u72ec\u75c7\u6837\u8868\u578b\uff0c\u800c\u8fc7\u8868\u8fbeC79\u53ef\u663e\u6539\u5584CNTNAP2-I1254T\u57fa\u56e0\u6572\u5165\u5c0f\u9f20\u548cCNTNAP2\u57fa\u56e0\u6572\u9664\u5c0f\u9f20\u7684\u5b64\u72ec\u75c7\u6837\u8868\u578b\u3002\u8fd9\u9879\u7814\u7a76\u4e0d\u4ec5\u8868\u660e\u03b1-\u5206\u6ccc\u9176\u5728CNTNAP2\u86cb\u767d\u4ee3\u8c22\u548c\u529f\u80fd\u4e2d\u7684\u91cd\u8981\u4f5c\u7528\uff0c\u800c\u4e14\u63d0\u793a\u03b1-\u5206\u6ccc\u9176\u526a\u5207\u4ea7\u7269C79\u53ef\u80fd\u5177\u6709\u6cbb\u7597\u5b64\u72ec\u75c7\u7684\u6f5c\u529b\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"554\" height=\"273\" src=\"http:\/\/www.hngenetics.org\/wp-content\/uploads\/2024\/03\/112.png\" alt=\"\" class=\"wp-image-1717\" srcset=\"http:\/\/www.hngenetics.org\/wp-content\/uploads\/2024\/03\/112.png 554w, http:\/\/www.hngenetics.org\/wp-content\/uploads\/2024\/03\/112-300x148.png 300w\" sizes=\"auto, (max-width: 554px) 100vw, 554px\" \/><\/figure><\/div>\n\n\n<p>\u52a0\u62ff\u5927\u5065\u5eb7\u79d1\u5b66\u9662\u9662\u58eb\u3001\u74ef\u6c5f\u5b9e\u9a8c\u5ba4\u4e3b\u4efb\u3001\u6e29\u5dde\u533b\u79d1\u5927\u5b66\u526f\u6821\u957f\u5b8b\u4f1f\u5b8f\u9662\u58eb\u4e0e\u4e2d\u5357\u5927\u5b66\u751f\u547d\u79d1\u5b66\u5b66\u9662\u674e\u5bb6\u5927\u6559\u6388\u3001\u9996\u90fd\u533b\u79d1\u5927\u5b66\u5ba3\u6b66\u533b\u9662\u5f20\u97f5\u526f\u6559\u6388\u662f\u672c\u9879\u6210\u679c\u7684\u5171\u540c\u901a\u8baf\u4f5c\u8005\u3002 \u539f\u6587\u94fe\u63a5\uff1ahttps:\/\/www.nature.com\/articles\/s41392-024-01768-6<\/p>\n","protected":false},"excerpt":{"rendered":"<div class=\"mh-excerpt\"><p>2024\u5e743\u67081\u65e5\uff0c\u56fd\u9645\u6743\u5a01\u671f\u520aSignal Tr <a class=\"mh-excerpt-more\" href=\"http:\/\/www.hngenetics.org\/?p=1715\" title=\"\u4e2d\u5357\u5927\u5b66\u674e\u5bb6\u5927\u6559\u6388\u5408\u4f5c\u53d1\u73b0CNTNAP2\u7a81\u53d8\u5bfc\u81f4\u5b64\u72ec\u75c7\u7684\u65b0\u673a\u5236\">[\u8be6\u7ec6]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":1717,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[17,9],"tags":[],"class_list":["post-1715","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-17","category-9"],"_links":{"self":[{"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/posts\/1715","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=1715"}],"version-history":[{"count":2,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/posts\/1715\/revisions"}],"predecessor-version":[{"id":1719,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/posts\/1715\/revisions\/1719"}],"wp:featuredmedia":[{"embeddable":true,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=\/wp\/v2\/media\/1717"}],"wp:attachment":[{"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=1715"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=1715"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/www.hngenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=1715"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}