{"id":3246,"date":"2022-10-31T18:28:36","date_gmt":"2022-10-31T18:28:36","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?page_id=3246"},"modified":"2023-12-30T07:52:02","modified_gmt":"2023-12-30T07:52:02","slug":"laboratorio","status":"publish","type":"page","link":"https:\/\/neuropediatoolkit.org\/en\/laboratorio\/","title":{"rendered":"Laboratory"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">Ciencia b\u00e1sica aplicada. <\/h2>\n\n\n<form role=\"search\" method=\"get\" action=\"https:\/\/neuropediatoolkit.org\/en\/\" class=\"wp-block-search__button-inside wp-block-search__icon-button wp-block-search\"    ><label class=\"wp-block-search__label screen-reader-text\" for=\"wp-block-search__input-2\" >Buscar<\/label><div class=\"wp-block-search__inside-wrapper\" ><input class=\"wp-block-search__input\" id=\"wp-block-search__input-2\" placeholder=\"\" value=\"\" type=\"search\" name=\"s\" required \/><button aria-label=\"Buscar\" class=\"wp-block-search__button has-icon wp-element-button\" type=\"submit\" ><svg class=\"search-icon\" viewBox=\"0 0 24 24\" width=\"24\" height=\"24\">\n\t\t\t\t\t<path d=\"M13 5c-3.3 0-6 2.7-6 6 0 1.4.5 2.7 1.3 3.7l-3.8 3.8 1.1 1.1 3.8-3.8c1 .8 2.3 1.3 3.7 1.3 3.3 0 6-2.7 6-6S16.3 5 13 5zm0 10.5c-2.5 0-4.5-2-4.5-4.5s2-4.5 4.5-4.5 4.5 2 4.5 4.5-2 4.5-4.5 4.5z\"><\/path>\n\t\t\t\t<\/svg><\/button><\/div><\/form>\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<p>Podemos analizar los mecanismos de las enfermedades neuropedi\u00e1tricas en distintos niveles biol\u00f3gicos. Algunas enfermedades est\u00e1n involucradas caracter\u00edsticamente en uno de ellos, y otras participan de forma recurrente en varios. No obstante agruparlas en grupos funcionales es \u00fatil para analizar sus elementos comunes y favorecer su comprensi\u00f3n desde el punto de vista biol\u00f3gico.  <\/p>\n<\/div><figure class=\"wp-block-media-text__media\"><img fetchpriority=\"high\" decoding=\"async\" width=\"717\" height=\"1024\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-61-717x1024.png\" alt=\"\" class=\"wp-image-3863 size-full\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-717x1024.png 717w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-210x300.png 210w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-768x1097.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-1075x1536.png 1075w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-1434x2048.png 1434w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-8x12.png 8w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-61-1568x2240.png 1568w\" sizes=\"(max-width: 717px) 100vw, 717px\" \/><\/figure><\/div>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-3a855b8f\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Nivel pico.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-0234d2db\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciencias f\u00edsicas.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Biof\u00edsica. <\/p>\n\n\n\n<p>Bioestad\u00edstica.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Nivel nano.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3f2a0790\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Genomics\">Gen\u00f3mica<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Existen diferencias entre gen\u00f3mica y gen\u00e9tica. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>La gen\u00e9tica es el estudio de la funci\u00f3n y compsici\u00f3n de los genes, as\u00ed como su herencia, y las enfermedades que produce. <\/li>\n\n\n\n<li>La genomica es el estudio del set completo de informaci\u00f3n gen\u00e9tica de un organismo, incluyendo las regiones no codificantes. <\/li>\n<\/ul>\n\n\n\n<p>El genoma de un indiv\u00edduo se encuentra empaquetado en cromosomas, compuestos de cromatina, que a su vez est\u00e1 formada por las hebras de DNA empaquetadas alrededor de las histonas. Las hebras de DNA estan formadas por la combinaci\u00f3n de pares de bases.  <\/p>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-856x1024.png\" alt=\"\" class=\"wp-image-3341\" width=\"330\" height=\"395\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-856x1024.png 856w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-251x300.png 251w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-768x919.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1-10x12.png 10w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/TheGENOME_cell-to-DNA-1284x1536-1.png 1284w\" sizes=\"(max-width: 330px) 100vw, 330px\" \/><\/figure>\n\n\n\n<p>Podemos clasificar las distintas enfermedades gen\u00f3micas en:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/cariotipo-en-la-era-del-acgh\/\">Aneuploidias y otros errores citogen\u00e9ticos<\/a>.<\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/sindromes-de-microdeleccion-y-microduplicacion\/\">Reordenamientos cromos\u00f3micos y CNVs.<\/a><\/li>\n<\/ul>\n\n\n\n<p>Y las enfermedades gen\u00e9ticas en:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/notable-mutations%ef%bf%bc\/\">Mutaciones puntuales y enfermedades monogen\u00e9ticas.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/str-short-tandem-repeat-disorders\/\">Mutaciones din\u00e1micas y STRs.<\/a><\/li>\n\n\n\n<li>Trastornos de la reparaci\u00f3n del DNA. <\/li>\n\n\n\n<li>Tel\u00f3meros.<\/li>\n<\/ul>\n\n\n\n<p>Existen m\u00faltiples recursos para consultar las enfermedades gen\u00f3micas y gen\u00e9ticas, como: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/decipher-genome-browser\/\">Decipher genome browser. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/gene-reviews\/\">GeneReviews<\/a>.<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Epigenoma\">Epigen\u00f3mica<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metilaci%C3%B3n_del_ADN\">Metilaci\u00f3n.<\/a> <\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK535150\/?report=reader\">Epigen\u00e9tica y enfermedades causadas por errores de imprinting<\/a>.<\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/cromatinopatias\/\">Cromatinopat\u00edas.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK550348\/\">Metiloma y huella epigen\u00e9tica. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"631\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/01\/image-1-1024x631.png\" alt=\"\" class=\"wp-image-4346\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-1024x631.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-300x185.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-768x474.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-1536x947.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-2048x1263.png 2048w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-18x12.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/01\/image-1-1568x967.png 1568w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Transcriptomics_technologies\">Transcript\u00f3mica<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"754\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-47-1024x754.png\" alt=\"\" class=\"wp-image-3760\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-1024x754.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-300x221.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-768x566.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47-16x12.png 16w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-47.png 1036w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-60dbf9bfb7b0dfe7c08c2ca4eea15054\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:CGURW97Q}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n        <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n        <span class=\"ZP_POSTID ZP_ATTR\">3246<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\t\t\t\t<span class=\"ZP_JSON ZP_ATTR\">%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22CGURW97Q%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Millan%22%2C%22parsedDate%22%3A%222013%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BMillan%20MJ.%20An%20epigenetic%20framework%20for%20neurodevelopmental%20disorders%3A%20From%20pathogenesis%20to%20potential%20therapy.%20Neuropharmacology%20%5BInternet%5D.%202013%20%5Bcited%202016%20Sept%2026%5D%3B68%3A2%26%23x2013%3B82.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS002839081200562X%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS002839081200562X%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22An%20epigenetic%20framework%20for%20neurodevelopmental%20disorders%3A%20From%20pathogenesis%20to%20potential%20therapy%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mark%20J.%22%2C%22lastName%22%3A%22Millan%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%225%5C%2F2013%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.neuropharm.2012.11.015%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Flinkinghub.elsevier.com%5C%2Fretrieve%5C%2Fpii%5C%2FS002839081200562X%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%2200283908%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22N2ARV9VB%22%2C%227ZJWGN9I%22%5D%2C%22dateModified%22%3A%222025-09-27T22%3A13%3A52Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t<div id=\"zp-ID-3246-332710-CGURW97Q\" data-zp-author-date='Millan-2013' data-zp-date-author='2013-Millan' data-zp-date='2013' data-zp-year='2013' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Millan MJ. An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy. Neuropharmacology [Internet]. 2013 [cited 2016 Sept 26];68:2\u201382. Available from: <a class='zp-ItemURL' href='http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S002839081200562X'>http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S002839081200562X<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<p>Existen 2 procesos relacionados con el ARN que permiten el paso de la informaci\u00f3n gen\u00e9tica hacia la producci\u00f3n de prote\u00ednas. Son la <a href=\"https:\/\/en.wikipedia.org\/wiki\/Transcription_(biology)\">transcripci\u00f3n <\/a>y la <a href=\"https:\/\/es.wikipedia.org\/wiki\/Traducci%C3%B3n_(gen%C3%A9tica)\">traducci\u00f3n<\/a>, entre las cuales existen diversos procesos en los cuales se madura el RNAm desde un pre-RNAm, conocidos como <a href=\"https:\/\/en.wikipedia.org\/wiki\/Post-transcriptional_modification\">mecanismos de modificaci\u00f3n post-transcripci\u00f3n<\/a>. Intervienen varias mol\u00e9culas basadas en ARN, como el RNA-t y el snRNA (ribonucleoprote\u00ednas). Tambi\u00e9n existen mecanismos de modificaci\u00f3n<a href=\"https:\/\/es.wikipedia.org\/wiki\/Modificaci%C3%B3n_postraduccional\"> post-traducci\u00f3n<\/a> de las prote\u00ednas. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Transcripci\u00f3n. \n<ul class=\"wp-block-list\">\n<li>Transcriptopat\u00edas. <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Post-transcripci\u00f3n.\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/spliceopathies\/\">Spliceopatias.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/thebiologynotes.com\/alternative-splicing\/\">Splicing alternativo.<\/a> <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Traducci\u00f3n.\n<ul class=\"wp-block-list\">\n<li>Ribosomopat\u00edas. <\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Post-traducci\u00f3n. <\/li>\n<\/ul>\n\n\n\n<p><a href=\"https:\/\/www.nature.com\/articles\/nrg3074\">Noncoding RNA.<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/oligonucleotidos-antisentido\/\">Oligonucle\u00f3tidos antisentido. <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Prote%C3%B3mica\">Prote\u00f3mica<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Las <a href=\"https:\/\/en.wikipedia.org\/wiki\/Proteinopathy\">proteinopat\u00edas<\/a> son todas aquellas enfermedades gen\u00e9ticas que afectan a las regiones codificantes del DNA y producen afectaci\u00f3n de la conformaci\u00f3n de las cadenas de amino\u00e1cidos. Se excluyen de este concepto las enfermedades causadas por RNA no codificante, o las causadas por mutaciones que afectan a la secuencia de amino\u00e1cidos, por ejemplo. <\/p>\n\n\n\n<p>No obstante, dentro de este cap\u00edtulo vamos a agrupar las enfermedades en funci\u00f3n del tipo de prote\u00edna al que afectan. <\/p>\n\n\n\n<p>Existen 3 grupos principales de prote\u00ednas. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Prote\u00ednas funcionales (enzimas). Su alteraci\u00f3n da lugar a enfermedades metab\u00f3licas (metabolopat\u00edas). Suelen tener herencia autos\u00f3mico recesiva <a href=\"https:\/\/neuropediatoolkit.org\/enfermedades-metabolicas-ligadas-al-x\/\">(aunque no todas)<\/a>. <\/li>\n\n\n\n<li>Prote\u00ednas estructurales. Su alteraci\u00f3n da lugar a cambios f\u00edsicos (fenot\u00edpicos) microsc\u00f3picos (en la c\u00e9lula y los tejidos) o macrosc\u00f3picos. Suelen tener herencia autos\u00f3mico dominante. <\/li>\n\n\n\n<li>Se\u00f1alizaci\u00f3n celular y uni\u00f3n a ligandos. Son prote\u00ednas estructurales con una funci\u00f3n espec\u00edfica, conectadas a v\u00edas de comunicaci\u00f3n extracelulares e intracelulares. Existen receptores, canales y transportadores, as\u00ed como neurotransmisores, hormonas y cascadas de se\u00f1alizaci\u00f3n. Son especialmente importantes en el sistema nervioso central, que dispone de un sistema de comunicaci\u00f3n intercelular espec\u00edfico (sinapsis). <\/li>\n<\/ul>\n\n\n\n<p>En la web <a href=\"https:\/\/www.proteinatlas.org\/\">proteinatlas<\/a> puede revisarse la expresi\u00f3n histol\u00f3gica de distintas prote\u00ednas en funci\u00f3n del tejido a estudiar. <\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-4b6a0c3d\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikibooks.org\/wiki\/Enfermedades_metab%C3%B3licas_producidas_por_enzimas_defectuosas\">Enzimopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>La mayor parte de enfermedades metab\u00f3licas hereditarias (errores cong\u00e9nitos del metabolismo) se deben a la mutaci\u00f3n de una enzima que produce un bloqueo metab\u00f3lico en una v\u00eda metab\u00f3lica sin alternativa (aunque algunas otras se deben a transportopat\u00edas, por ejemplo). Ver m\u00e1s adelante en el metaboloma. <\/p>\n\n\n\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/7qgxdfs9r7-u\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/sinaptopatias\/\">Sinaptopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"601\" height=\"525\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-9.png\" alt=\"\" class=\"wp-image-3680\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9.png 601w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-300x262.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-9-14x12.png 14w\" sizes=\"(max-width: 601px) 100vw, 601px\" \/><figcaption class=\"wp-element-caption\">M\u00faltiples mecanismos de alteraci\u00f3n de la funci\u00f3n de los neurotransmisores.<\/figcaption><\/figure>\n\n\n\n<p>M\u00e1s all\u00e1 de las <a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">enfermedades cl\u00e1sicas de los neurotransmisores<\/a>, en los \u00faltimos a\u00f1os se han descubierto otras enfermedades complejas relacionadas con la maquinaria espec\u00edfica de la sinapsis, y pueden clasificarse en funci\u00f3n de su localizaci\u00f3n en esta estructura en: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Presin\u00e1pticas. Son aquellas enfermedades que se producen por disrupci\u00f3n de la s\u00edntesis, transporte o fusi\u00f3n de la ves\u00edcula sin\u00e1ptica. Un ejemplo es la encefalopat\u00eda secundaria a mutaci\u00f3n del <a href=\"https:\/\/stxbp1.es\/\">STXBP1. <\/a><\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"565\" height=\"458\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-44.png\" alt=\"\" class=\"wp-image-3294\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44.png 565w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-300x243.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-44-15x12.png 15w\" sizes=\"(max-width: 565px) 100vw, 565px\" \/><figcaption class=\"wp-element-caption\"><div id=\"zotpress-4abc9d83d289af31c82470347550396f\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:63WK5ADH}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID 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id=\"zp-ID-3246-332710-63WK5ADH\" data-zp-author-date='Cort\u00e8s-Saladelafont-et-al.-2016' data-zp-date-author='2016-Cort\u00e8s-Saladelafont-et-al.' data-zp-date='2016' data-zp-year='2016' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Cort\u00e8s-Saladelafont E, Trist\u00e1n-Noguero A, Artuch R, Altafaj X, Bay\u00e8s A, Garc\u00eda-Cazorla A. Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission. Seminars in Pediatric Neurology [Internet]. 2016 [cited 2017 Nov 17];23(4):306\u201320. Available from: <a class='zp-ItemURL' href='http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1071909116300353'>http:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1071909116300353<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Postsin\u00e1pticas. Son aquellas enfermedades relacionadas con los receptores dendr\u00edticos. Un ejemplo son las <a href=\"https:\/\/grin-portal.broadinstitute.org\/\">GRINpat\u00edas (Glutamate Receptor, Inotropic, NMDA, subunit 1). <\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Channelopathy\">Canalopat\u00edas.<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/epilepsygenetics.net\/\">BeyondTheIonChannel<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"579\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-46.png\" alt=\"\" class=\"wp-image-3322\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-300x254.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-46-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/scn-portal.broadinstitute.org\/\">SCNportal. <\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Vias moleculares intracelulares.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>mTORpat\u00edas.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"765\" height=\"522\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-42.png\" alt=\"\" class=\"wp-image-3285\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42.png 765w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-42-18x12.png 18w\" sizes=\"(max-width: 765px) 100vw, 765px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/rasopathiesnet.org\/\">RASopat\u00edas. <\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"417\" height=\"476\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-43.png\" alt=\"\" class=\"wp-image-3287\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43.png 417w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-263x300.png 263w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-43-11x12.png 11w\" sizes=\"(max-width: 417px) 100vw, 417px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Transportopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Las <a href=\"http:\/\/neuropediatoolkit.org\/transportopatias\/\">transportopat\u00edas<\/a> son todas aquellas enfermedades derivadas del mal funcionamiento de las prote\u00ednas transportadoras de membrana, un conjunto de estructuras en forma de canal que permiten el paso a trav\u00e9s de las membranas tanto mediante el uso del <a href=\"https:\/\/en.wikipedia.org\/wiki\/Active_transport\">transporte activo<\/a> como el <a href=\"https:\/\/en.wikipedia.org\/wiki\/Passive_transport\">transporte pasivo<\/a> a favor de gradiente, permitiendo y regulando la entrada y salida de distintos compuestos en la c\u00e9lula y las organelas celulares. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"432\" height=\"299\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-8.png\" alt=\"\" class=\"wp-image-3604\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8.png 432w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-300x208.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-8-18x12.png 18w\" sizes=\"(max-width: 432px) 100vw, 432px\" \/><\/figure>\n\n\n\n<p>Tambi\u00e9n podemos clasificarlas en funci\u00f3n de las sustancias transportadas, en <a href=\"https:\/\/en.wikipedia.org\/wiki\/Uniporter\">uniportador <\/a>(1 unica sustancia) o <a href=\"https:\/\/en.wikipedia.org\/wiki\/Cotransporter\">cotransportador<\/a> (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Symporter\">simportador<\/a>, 2 sustancias en la misma direcci\u00f3n; <a href=\"https:\/\/en.wikipedia.org\/wiki\/Antiporter\">antiportador<\/a>, 2 sustancias en direcciones opuestas). <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png\" alt=\"\" class=\"wp-image-3603\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-1024x576.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-300x169.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-768x432.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7-18x10.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/image-7.png 1280w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>Existen varios recursos para consultar informaci\u00f3n sobre los transportadores de membrana, como la <a href=\"http:\/\/www.ittsociety.org\/itts-events\/2020\/6\/14\/grc-membrane-transport-proteins\">web de la sociedad internacional de prote\u00ednas transportadoras de membrana<\/a>, o la web de Bioparadigms, donde se mantiene un <a href=\"https:\/\/www.bioparadigms.org\/slc\/intro.htm\">registro de clasificaci\u00f3n de todas las prote\u00ednas SLC <\/a>descubiertas hasta la fecha y su funci\u00f3n, as\u00ed como la iniciativa <a href=\"https:\/\/www.nccr-transcure.ch\/\">TransCure<\/a>, para la investigaci\u00f3n de tratamientos.<\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/es.wikipedia.org\/wiki\/Metabol%C3%B3mica\">Metabol\u00f3mica<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Existen m\u00faltiples recursos para el estudio de las enfermedades metab\u00f3licas, el m\u00e1s \u00fatil es el <a href=\"http:\/\/neuropediatoolkit.org\/vademecum-metabolicum\/\">Vademecum Metabolicum<\/a>. <\/p>\n\n\n\n<p>Tambi\u00e9n resultan interesantes las webs de <a href=\"http:\/\/biochemical-pathways.com\/#\/map\/1\">biochemical pathways<\/a>, donde est\u00e1 disponible un diagrama con todas las rutas metab\u00f3licas relevantes, o la web del <a href=\"https:\/\/www.genome.jp\/kegg\/\">KEGG<\/a> (Kyoto Encyclopedia of Genes and Genomes), donde se dispone de informaci\u00f3n tabulizada sobre los metabolitos, las enzimas y los genes codificantes as\u00ed como diagramas de todas las rutas metab\u00f3licas, o la web <a href=\"https:\/\/humancyc.org\/\">HumanCyC<\/a>, una enciclopedia del metabolismo y los genes del ser humano. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/0\">Aminoacidopat\u00edas y enfermedades de los p\u00e9ptidos. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/1\">Enfermedades del metabolismo de los carbohidratos. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/2\">Enfermedades del metabolismo de los \u00e1cidos grasos, carnitina y cuerpos cet\u00f3nicos.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/7\">Lipidopat\u00edas<\/a>. <\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/4\">Purinas, pirimidinas y nucle\u00f3tidos. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/3\">Metabolismo energ\u00e9tico. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/cdg-roadmap\/\">Trastornos de la glicosilaci\u00f3n.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/11\">Metabolismo de los neurotransmisores.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/12\">Metabolismo de las vitaminas y cofactores. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/0\/13\">Metabolismo de los elementos traza y metales.<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Nivel micro.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-63.png\" alt=\"\" class=\"wp-image-5414\" width=\"618\" height=\"542\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-300x264.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-768x675.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-63-14x12.png 14w\" sizes=\"(max-width: 618px) 100vw, 618px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-47afee26\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Ciliopat\u00edas.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"312\" height=\"215\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-45.png\" alt=\"\" class=\"wp-image-3310\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45.png 312w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-300x207.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-45-18x12.png 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ZP_ATTR\">%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22UA2FVAU9%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Reiter%20and%20Leroux%22%2C%22parsedDate%22%3A%222017-09%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BReiter%20JF%2C%20Leroux%20MR.%20Genes%20and%20molecular%20pathways%20underpinning%20ciliopathies.%20Nat%20Rev%20Mol%20Cell%20Biol%20%5BInternet%5D.%202017%20Sept%20%5Bcited%202022%20Oct%2031%5D%3B18%289%29%3A533%26%23x2013%3B47.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fnrm.2017.60%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fnrm.2017.60%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Genes%20and%20molecular%20pathways%20underpinning%20ciliopathies%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jeremy%20F.%22%2C%22lastName%22%3A%22Reiter%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Michel%20R.%22%2C%22lastName%22%3A%22Leroux%22%7D%5D%2C%22abstractNote%22%3A%22There%20are%20two%20types%20of%20cilia%2C%20motile%20and%20non-motile%20primary%2C%20which%20have%20different%20roles%20in%20human%20physiology%2C%20cell%20signalling%20and%20development.Ciliopathies%20are%20human%20disorders%20that%20arise%20from%20the%20dysfunction%20of%20motile%20and%5C%2For%20non-motile%20cilia.%20At%20least%2035%20different%20ciliopathies%20collectively%20affect%20nearly%20all%20organ%20systems%2C%20with%20prevalent%20phenotypes%20including%20polycystic%20kidney%20disease%2C%20retinal%20degeneration%2C%20obesity%2C%20skeletal%20malformations%20and%20brain%20anomalies.There%20are%20more%20than%20180%20known%20ciliopathy-associated%20proteins%2C%20and%20over%20240%20established%20ciliary%20proteins%20that%20represent%20candidate%20ciliopathy%20proteins.The%20basal%20body%2C%20transition%20zone%20and%20intraflagellar%20transport%20system%20represent%20hotspots%20for%20ciliopathies.Proteins%20that%20do%20not%20specifically%20localize%20to%20cilia%20may%20influence%20ciliary%20functions%20and%20cause%20ciliopathies%2C%20and%20ciliary%20proteins%20can%20have%20extraciliary%20functions.Many%20complementary%20approaches%2C%20coupled%20with%20the%20sequencing%20of%20the%20genomes%20of%20patients%2C%20are%20being%20carried%20out%20to%20uncover%20additional%20ciliary%20proteins%20and%20their%20associations%20with%20known%20or%20novel%20ciliopathies.%22%2C%22date%22%3A%222017-09%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fnrm.2017.60%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fnrm.2017.60%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221471-0080%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22UUQCBK9V%22%2C%22VAMI5HYK%22%5D%2C%22dateModified%22%3A%222025-11-09T21%3A22%3A51Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t<div id=\"zp-ID-3246-332710-UA2FVAU9\" data-zp-author-date='Reiter-and-Leroux-2017-09' data-zp-date-author='2017-09-Reiter-and-Leroux' data-zp-date='2017-09' data-zp-year='2017' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Reiter JF, Leroux MR. Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol [Internet]. 2017 Sept [cited 2022 Oct 31];18(9):533\u201347. Available from: <a class='zp-ItemURL' href='https:\/\/www.nature.com\/articles\/nrm.2017.60'>https:\/\/www.nature.com\/articles\/nrm.2017.60<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"685\" height=\"592\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-6.png\" alt=\"\" class=\"wp-image-3355\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-300x259.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-6-14x12.png 14w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ciliopathyalliance.org\/\">https:\/\/www.ciliopathyalliance.org\/<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Citoesqueleto<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Tubulinopat\u00edas<\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Golgiopatias<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"930\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png\" alt=\"\" class=\"wp-image-3366\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-1024x930.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-300x272.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-768x698.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9-13x12.png 13w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-9.png 1418w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Enfermedades mitocondriales<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<iframe src=\"https:\/\/prezi.com\/p\/embed\/n0kfrrzccdf8\/\" id=\"iframe_container\" webkitallowfullscreen=\"\" mozallowfullscreen=\"\" allowfullscreen=\"\" allow=\"autoplay; fullscreen\" width=\"560\" height=\"315\" frameborder=\"0\"><\/iframe>\n\n\n\n<p><a href=\"https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome\">https:\/\/www.mitomap.org\/foswiki\/bin\/view\/MITOMAP\/WebHome<\/a><\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-umdf wp-block-embed-umdf\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/www.umdf.org\/\n<\/div><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"http:\/\/neuropediatoolkit.org\/facies-tosca\/\">Enfermedades Lisosomales<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/neuropediatoolkit.org\/enfermedades-peroxisomales\/\">Enfermedades Peroxisomales<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div><a href=\"https:\/\/en.wikipedia.org\/wiki\/Ribosomopathy\">Ribosomopat\u00edas<\/a><\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Nivel macro. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-53b6b186\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Fenotipo macrosc\u00f3pico. Neuroanatom\u00eda.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.clinicalneuroanatomyseminars.com\">https:\/\/www.clinicalneuroanatomyseminars.com<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/braininfo.rprc.washington.edu\/Default.aspx\">http:\/\/braininfo.rprc.washington.edu\/Default.aspx<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.neuroanatomy.ca\/\">https:\/\/www.neuroanatomy.ca\/<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/www.atlasbrain.com\/enx\/atlas_main.html\">http:\/\/www.atlasbrain.com\/enx\/atlas_main.html<\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/jerarquia-del-control-del-sistema-motor\/\">Jerarqu\u00eda del control del sistema motor. <\/a><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Polioencefalopat\u00edas.<\/li>\n\n\n\n<li>Leucoencefalopat\u00edas. <\/li>\n\n\n\n<li>Basal ganglia disorders.<\/li>\n\n\n\n<li>Cerebelopat\u00edas. <\/li>\n\n\n\n<li>Mielopat\u00edas. <\/li>\n\n\n\n<li>Enfermedades neuromusculares.<ul><li>Polineuropat\u00edas.<\/li><li>Miopat\u00edas.<\/li><\/ul>\n<ul class=\"wp-block-list\">\n<li>Enfermedades de la uni\u00f3n neuromuscular. <\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Fenotipo del desarrollo (morfol\u00f3gico). <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"751\" height=\"437\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/04\/imagen-64.png\" alt=\"\" class=\"wp-image-5417\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64.png 751w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-300x175.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/04\/imagen-64-18x10.png 18w\" sizes=\"(max-width: 751px) 100vw, 751px\" \/><\/figure>\n\n\n\n<p>Embriolog\u00eda.  <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html\">http:\/\/www.uco.es\/~an1gamoj\/MyWeb\/animated_embryology.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html\">https:\/\/is.muni.cz\/do\/rect\/el\/estud\/lf\/ps15\/atlas\/web\/intro_en.html<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/atlas.eshre.eu\/\">https:\/\/atlas.eshre.eu\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ehd.org\/virtual-human-embryo\/\">https:\/\/www.ehd.org\/virtual-human-embryo\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.3dembryoatlas.com\/\">https:\/\/www.3dembryoatlas.com\/<\/a><\/li>\n<\/ul>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/neuroembriopatias-malformaciones-del-snc\/\">Neuroembriopat\u00edas. <\/a><\/p>\n\n\n\n<p><a href=\"http:\/\/neuropediatoolkit.org\/embriologia-y-neurodesarrollo\/\">Neurocristopat\u00edas.<\/a><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Fenotipo funcional neurol\u00f3gico. Neurociencia.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-3cffcf5a\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Behavioral phenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><\/p>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Cognitive endophenotypes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"https:\/\/www.genes2cognition.org\/\">https:\/\/www.genes2cognition.org\/<\/a><\/p>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<div class=\"wp-block-media-text alignwide has-media-on-the-right is-stacked-on-mobile\" style=\"grid-template-columns:auto 25%\"><div class=\"wp-block-media-text__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-5a5f2f6c\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Consecuencias supraindividuales. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>M\u00e1s all\u00e1 del indiv\u00edduo pueden tambi\u00e9n ser susceptibles de inter\u00e9s cl\u00ednico los distintos niveles de organizaci\u00f3n interindividual.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Familia.<\/li>\n\n\n\n<li>Sociedad.<\/li>\n\n\n\n<li>Cultura. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n<\/div><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"699\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/11\/imagen-60.png\" alt=\"\" class=\"wp-image-3854 size-full\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60-300x205.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60-768x524.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/11\/imagen-60-18x12.png 18w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure><\/div>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n","protected":false},"excerpt":{"rendered":"<p>Ciencia b\u00e1sica aplicada. Podemos analizar los mecanismos de las enfermedades neuropedi\u00e1tricas en distintos niveles biol\u00f3gicos. Algunas enfermedades est\u00e1n involucradas caracter\u00edsticamente en uno de ellos, y otras participan de forma recurrente en varios. No obstante agruparlas en grupos funcionales es \u00fatil para analizar sus elementos comunes y favorecer su comprensi\u00f3n desde el punto de vista biol\u00f3gico.<\/p>","protected":false},"author":1,"featured_media":3249,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-3246","page","type-page","status-publish","has-post-thumbnail","hentry","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=3246"}],"version-history":[{"count":20,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions"}],"predecessor-version":[{"id":7115,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/pages\/3246\/revisions\/7115"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/3249"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=3246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}