<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0370-3908</journal-id>
<journal-title><![CDATA[Revista de la Academia Colombiana de Ciencias Exactas, Físicas y Naturales]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. acad. colomb. cienc. exact. fis. nat.]]></abbrev-journal-title>
<issn>0370-3908</issn>
<publisher>
<publisher-name><![CDATA[Academia Colombiana de Ciencias Exactas, Físicas y Naturales]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0370-39082025000400703</article-id>
<article-id pub-id-type="doi">10.18257/raccefyn.3228</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Caracterización bioinformática de modificaciones postraduccionales asociadas a la mutación con cambio de sentido T30I en la ferritina de cadena ligera y su efecto en la hiperferritinemia con cataratas]]></article-title>
<article-title xml:lang="en"><![CDATA[Bioinformatic characterization of post-translational modifications related to the T30I missense mutation in the ferritin light chain protein and its effect on hyperferritinemia with cataracts]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gómez-Hernández]]></surname>
<given-names><![CDATA[Madelin]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Soto-Ospina]]></surname>
<given-names><![CDATA[Alejandro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Villegas-Lanau]]></surname>
<given-names><![CDATA[Andrés]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Antioquia  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Grupo de Investigación en Producción, Desarrollo y Transformación Agropecuaria GIPDTA  ]]></institution>
<addr-line><![CDATA[Caldas Antioquia]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Antioquia  ]]></institution>
<addr-line><![CDATA[Medellín ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2025</year>
</pub-date>
<volume>49</volume>
<numero>193</numero>
<fpage>703</fpage>
<lpage>713</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0370-39082025000400703&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0370-39082025000400703&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0370-39082025000400703&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La ferritina es una proteína altamente conservada, pero las mutaciones en su secuencia primaria pueden estar relacionadas con diversas enfermedades, entre ellas, la hiperferritinemia con cataratas asociada a la mutación con cambio de sentido T30I en la ferritina de cadena ligera. Aunque se han propuesto algunos de los mecanismos moleculares de dicha mutación, el papel de las modificaciones postraduccionales involucradas aún no se ha esclarecido completamente. Hacemos aquí una caracterización bioinformática de las modificaciones alteradas por la mutación utilizando bases de datos y programas predictivos como NetNGlyc 1.0, NetOGlyc 4.0, NETPHOS 3.1 y Reactome. Nuestros análisis apuntaron hacia la pérdida de fosforilación en la serina 33 por acción de la quinasa CKI, lo que afecta la vía de señalización Wnt/&#946;-catenina. Estos resultados nos permiten proponer que la alteración en las modificaciones postraduccionales de la ferritina de cadena ligera constituiría un mecanismo molecular relacionado con el desarrollo de cataratas en la hiperferritinemia hereditaria.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Ferritin is a highly conserved protein; however, mutations in its primary sequence may be associated with various diseases. Among them is hyperferritinemia with cataracts, related to the T30I missense mutation in the ferritin light chain, for which some molecular mechanisms have been proposed, but the role of the post-translational modifications involved has not yet been fully elucidated. Here, we performed a bioinformatic characterization of the post-translational modifications altered by this mutation using database searches and predictive tools such as NetNGlyc 1.0, NetOGlyc 4.0, NetPhos 3.1, and Reactome. The analyses suggest a loss of phosphorylation at serine 33 by the CKI kinase, which affects the Wnt/&#946;-catenin signaling pathway. These results support the hypothesis that alterations in the post-translational modifications of the ferritin light chain may constitute a potential molecular mechanism related to cataract development in hereditary hyperferritinemia.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Ferritina]]></kwd>
<kwd lng="es"><![CDATA[Cataratas por hiperferritinemia hereditaria-HHCS]]></kwd>
<kwd lng="es"><![CDATA[Vía Wnt/&#946;-catenina]]></kwd>
<kwd lng="es"><![CDATA[Cataratas]]></kwd>
<kwd lng="en"><![CDATA[Ferritin]]></kwd>
<kwd lng="en"><![CDATA[Hyperferritinemia with cataracts-HHCS]]></kwd>
<kwd lng="en"><![CDATA[Wnt/&#946;-catenin pathway]]></kwd>
<kwd lng="en"><![CDATA[Cataracts]]></kwd>
</kwd-group>
</article-meta>
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