{"id":10529,"date":"2025-01-31T12:39:27","date_gmt":"2025-01-31T11:39:27","guid":{"rendered":"https:\/\/www.uni.lu\/lcsb-en\/?post_type=research-groups&#038;p=10529"},"modified":"2025-06-17T16:15:58","modified_gmt":"2025-06-17T14:15:58","slug":"research","status":"publish","type":"research-groups","link":"https:\/\/www.uni.lu\/lcsb-en\/research-groups\/gene-expression-dynamics\/research\/","title":{"rendered":"Research"},"content":{"rendered":"<div class=\"section py-0 static\">\n<section class=\"py-0 wp-block-unilux-blocks-free-section section\"><div class=\"container xl:max-w-screen-xl\"><!-- SecondaryNavigationMirror --><div class=\"js-secondary-nav--sticky wp-block-unilux-blocks-secondary-navigation\" id=\"6bc66919-078e-4be4-8a56-a1589137e448\">\n    <nav id=\"secondary-navigation\" role=\"navigation\" aria-label=\"Secondary menu\" class=\"secondary-nav\">\n        <button class=\"secondary-nav__button btn btn-solid--primary w-full\" aria-expanded=\"false\" aria-controls=\"secondary-navigation__list\" title=\"The selected page is Overview\" type=\"button\">\n            <span class=\"btn__name mr-auto\">Overview<\/span>\n            <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--xs\">\n                <use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-down\" \/>\n            <\/svg>\n        <\/button>\n\n        <ul id=\"secondary-navigation__list\" class=\"secondary-nav__list\">\n            <li class=\"secondary-nav__item\">\n    <a href=\"https:\/\/www.uni.lu\/lcsb-en\/research-groups\/gene-expression-dynamics\/\" target=\"\" rel=\"noreferrer noopener\" class=\"secondary-nav__link \">\n        <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--xs\">\n            <use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-right\" \/>\n        <\/svg>\n        <span class=\"secondary-nav__name\">Overview<\/span>\n    <\/a>\n<\/li>\n<li class=\"secondary-nav__item\">\n    <a href=\"https:\/\/www.uni.lu\/lcsb-en\/research-groups\/gene-expression-dynamics\/research\" target=\"\" rel=\"noreferrer noopener\" class=\"secondary-nav__link \">\n        <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--xs\">\n            <use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-right\" \/>\n        <\/svg>\n        <span class=\"secondary-nav__name\">Research<\/span>\n    <\/a>\n<\/li>\n<li class=\"secondary-nav__item\">\n    <a href=\"https:\/\/www.uni.lu\/lcsb-en\/research-groups\/gene-expression-dynamics\/publications\" target=\"\" rel=\"noreferrer noopener\" class=\"secondary-nav__link \">\n        <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--xs\">\n            <use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-right\" \/>\n        <\/svg>\n        <span class=\"secondary-nav__name\">Publications<\/span>\n    <\/a>\n<\/li>\n<li class=\"secondary-nav__item\">\n    <a href=\"https:\/\/www.uni.lu\/lcsb-en\/research-groups\/gene-expression-dynamics\/people\" target=\"\" rel=\"noreferrer noopener\" class=\"secondary-nav__link \">\n        <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--xs\">\n            <use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-right\" \/>\n        <\/svg>\n        <span class=\"secondary-nav__name\">People<\/span>\n    <\/a>\n<\/li>\n        <\/ul>\n    <\/nav>\n<\/div>\n<!-- end SecondaryNavigationMirror -->\n\n<section class=\"section  wp-block-unilux-blocks-content-card-full-width \">\n    <div class=\"container 2xl:max-w-screen-2xl\">\n        <div class=\"max-w-11\/12\">\n            <div class=\"content-card content-card--right content-card__overlay--hidden wp-block-unilux-blocks-content-card\">\n    \n<h2 class=\"content-card__heading has-text-align-left wp-block-unilux-blocks-heading\"        id=\"our-research\"\n    >\nOur Research<\/h2>\n<div class=\"content-card__visual wp-block-unilux-blocks-content-card-visual-area\">\n    \n<section class=\"wp-block-unilux-blocks-image-video-wrapper\">\n    <figure class=\"wp-block-dev4-reusable-blocks-image  object-fit--cover\">\n    \n<img decoding=\"async\" class=\"wp-block-image unilux-custom-image-block\"\n                alt=\"\"\n            src=\"https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/gene-expression-dynamics-group_research.jpg\"\n                srcset=\"https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/gene-expression-dynamics-group_research-300x230.jpg 300w, https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/gene-expression-dynamics-group_research-1024x784.jpg 1024w, https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/gene-expression-dynamics-group_research-768x588.jpg 768w, https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/gene-expression-dynamics-group_research.jpg 1182w\"\n                style=\"object-position: 50.00% 50.00%; font-family: &quot;object-fit: cover; object-position: 50.00% 50.00%;&quot;; aspect-ratio: 3\/2; object-fit: cover; width: 100%;\"\n        loading=\"lazy\"\n\/>    <\/figure><\/section>\n<div class=\"wp-block-unilux-blocks-wrapper content-card__overlay\">\n<a class=\"wp-block-unilux-blocks-button-highlight-rounded bottom-left\" \n    href=\"#\"\n    target=\"_self\"\n>\n    \n<span class=\"btn-highlight-rounded__name wp-block-unilux-blocks-plain-text\"><\/span>    <span class=\"icon-rounded\">\n        <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--arrow-right icon--lg\"><use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-right\"><\/use><\/svg>    <\/span>\n<\/a><\/div>\n<\/div><div class=\"content-card__body  wp-block-unilux-blocks-content-card-free-area\">\n    \n<h3 class=\"has-text-align-left wp-block-unilux-blocks-heading\"        id=\"the-noise-of-silent-mutations\"\n    >\nThe noise of silent mutations<\/h3>\n\n<p>The biology of disease is centred on the loss or gain of protein function caused by mutations that alter the protein sequence. Although these mutations undoubtedly contribute to the pathology of disorders, a unifying model of the underlying molecular mechanisms of these diseases is largely lacking. This suggests that important effects of these mutations on protein function have been overlooked.<\/p>\n\n<p>One possible explanation thereof is that mutations are only discussed in the context of fully synthesised proteins. A key process that is often neglected in this respect is protein synthesis. During translation, the speed of ribosomes is not uniform, but specific to the mRNA and the nascent protein encoded. This speed adaptation is necessary for the nascent protein to find its native structure and consequently affects its function. As a result, silent mutations, that do not change the sequence of the protein but the speed of the ribosomes, can affect its co-translational folding. This is particularly important in diseases characterised by changes in ribosome speed, such as autism. Although co-translational folding has important implications for protein function in cells, we know very little about this process. Therefore, we are studying ribosome speed during differentiation of stem cells from healthy and diseased patients and how silent mutations affect co-translational protein folding.<\/p>\n<\/div><\/div>        <\/div>\n    <\/div>\n<\/section>\n\n<figure class=\"wp-block-dev4-reusable-blocks-image  object-fit--contain\">\n    \n<img decoding=\"async\" class=\"wp-block-image unilux-custom-image-block\"\n                alt=\"\"\n            src=\"https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/Ribosomes-adjust-their-speed-during-translation.png\"\n                srcset=\"https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/Ribosomes-adjust-their-speed-during-translation-300x96.png 300w, https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/Ribosomes-adjust-their-speed-during-translation-768x245.png 768w, https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/Ribosomes-adjust-their-speed-during-translation.png 986w\"\n                style=\"object-position: 50.00% 50.00%; font-family: &quot;object-fit: contain; object-position: 50.00% 50.00%;&quot;; aspect-ratio: 32\/9; object-fit: contain; width: 100%;\"\n        loading=\"lazy\"\n\/>            <p class=\"wp-block-dev4-reusable-blocks-image-caption\">\n            Ribosomes adjust their speed during translation. At the velocity checkpoint, they slow down to give the nascent chain enough time to find its native fold. Mutations that alter ribosome speed can lead to protein misfolding. Importantly, this can be the case for both non-synonymous and synonymous silent mutations.        <\/p>\n    <\/figure><\/div><\/section>\n\n\n\n<section class=\"py-0 wp-block-unilux-blocks-free-section section\"><div class=\"container xl:max-w-screen-xl\">\n<p><\/p>\n<\/div><\/section>\n\n\n\n<section class=\"wp-block-unilux-blocks-free-section section\"><div class=\"container xl:max-w-screen-xl\">\n<h2 class=\"has-text-align-left wp-block-unilux-blocks-heading\"        id=\"our-research-projects\"\n    >\nOur research projects<\/h2>\n\n\n\n<p>Our research projects integrate translatomics, interactomics, visual proteomics and machine learning based structure analysis to unravel the impact of ribosome speed on co-translational folding in healthy and diseased cells.<\/p>\n\n\n\n<div class=\"wp-block-unilux-blocks-accordion accordion accordion--theme accordion-standard\" data-reference=\"db0e2cc3-9baf-4dac-aa25-ad21fb98d28b\" data-accordion-type=\"standard\"><div class=\"accordion__item  wp-block-unilux-blocks-accordion-item\">\n    <h3 class=\"accordion__header\"\n                    id=\"the-role-of-ribosome-assisted-nascent-protein-folding-in-maintaining-cellular-plasticity\"\n        >\n        <button\n            type=\"button\"\n            id=\"accordion-labelledby-89bced61-accf-4076-9685-c721df933759\"\n            class=\"accordion__button collapsed\"\n            aria-expanded=\"false\"\n            aria-controls=\"accordion-panel-89bced61-accf-4076-9685-c721df933759\"\n            data-bs-toggle=\"collapse\"\n            data-bs-target=\"#accordion-panel-89bced61-accf-4076-9685-c721df933759\"\n        >\n            <span class=\"accordion__title\">\n                                The role of ribosome assisted nascent protein folding in maintaining cellular plasticity            <\/span>\n\n            <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--arrow-down \"><use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-down\"><\/use><\/svg>        <\/button>\n    <\/h3>\n    <div id=\"accordion-panel-89bced61-accf-4076-9685-c721df933759\"\n        class=\"accordion__collapse collapse\"\n        aria-labelledby=\"accordion-labelledby-89bced61-accf-4076-9685-c721df933759\"\n        data-bs-parent=\"[data-reference=&quot;db0e2cc3-9baf-4dac-aa25-ad21fb98d28b&quot;]\"\n    >\n        <div class=\"accordion__body \">\n            \n<ul class=\"wp-block-unilux-blocks-highlighted-list list-highlighted list-highlighted--course\"><li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"duration\"\n    >\nDuration:<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p>2025-2028<\/p>\n<\/div><\/div><\/li>\n\n<li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"funding-source\"\n    >\nFunding source:<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p>LCSB<\/p>\n<\/div><\/div><\/li>\n\n<li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"researchers\"\n    >\nResearchers:<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p><\/p>\n<\/div><\/div><\/li>\n\n<li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"partners\"\n    >\nPartners:<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p><\/p>\n<\/div><\/div><\/li>\n\n<li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"description\"\n    >\nDescription:<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p>In this project we will use induced pluripotent stem cells and differentiate them into neural stem cells and neurons (1). Then we will identify ribosome pause sites using (kinetic) ribosome profiling (2). This method provides a snapshot of ribosome footprints along mRNAs. These pause sites will be aligned with the protein domain structure to identify velocity checkpoints where the ribosome slows down to facilitate co-translational folding. The experiments will be complemented by structure analysis using AlphaFold and structure probing using limited proteolysis.<\/p>\n\n<ol class=\"ulux-list\">\n<li class=\"ulux-list-item\">O&#8217;Neill AC <em>et al<\/em>. Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity. Science. 2022 Jun 17;376(6599):eabf9088. doi: 10.1126\/science.abf9088. Epub 2022 Jun 17. PMID: 35709258.<\/li>\n\n\n\n<li class=\"ulux-list-item\">Ingolia NT <em>et al<\/em>. Genome-wide analysis in vivo of translation with nucleotide resolution using ribosome profiling. Science. 2009 Apr 10;324(5924):218-23. doi: 10.1126\/science.1168978.<\/li>\n<\/ol>\n<figure class=\"wp-block-dev4-reusable-blocks-image  object-fit--contain\">\n    \n<img decoding=\"async\" class=\"wp-block-image unilux-custom-image-block\"\n                alt=\"\"\n            src=\"https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/role-of-ribosome-assisted-nascent-protein-folding-in-maintaining-cellular-plasticity-.jpg\"\n                srcset=\"https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/role-of-ribosome-assisted-nascent-protein-folding-in-maintaining-cellular-plasticity--275x300.jpg 275w, https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/role-of-ribosome-assisted-nascent-protein-folding-in-maintaining-cellular-plasticity--768x838.jpg 768w, https:\/\/www.uni.lu\/wp-content\/uploads\/sites\/6\/2025\/01\/role-of-ribosome-assisted-nascent-protein-folding-in-maintaining-cellular-plasticity-.jpg 770w\"\n                style=\"object-position: 50.00% 50.00%; font-family: &quot;object-fit: contain; object-position: 50.00% 50.00%;&quot;; aspect-ratio: 16\/9; object-fit: contain; width: 100%;\"\n        loading=\"lazy\"\n\/>    <\/figure>\n<p>We will analyse footprints of actively translating ribosomes to identify pause sites. These sites will be aligned with the domain structure of the encoded proteins to identify velocity checkpoints that will allow reconstruction of co-translational folding trajectories.<\/p>\n<\/div><\/div><\/li>\n\n<li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"project-details-pdf\"\n    >\nProject details (PDF):<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p><\/p>\n<\/div><\/div><\/li><\/ul>\n        <\/div>\n    <\/div>\n<\/div>\n\n<div class=\"accordion__item  wp-block-unilux-blocks-accordion-item\">\n    <h3 class=\"accordion__header\"\n                    id=\"react-rebalancing-the-epitranscriptional-landscape-as-an-advanced-therapy-in-sma\"\n        >\n        <button\n            type=\"button\"\n            id=\"accordion-labelledby-f531d204-b48f-4683-926d-fe647b143266\"\n            class=\"accordion__button collapsed\"\n            aria-expanded=\"false\"\n            aria-controls=\"accordion-panel-f531d204-b48f-4683-926d-fe647b143266\"\n            data-bs-toggle=\"collapse\"\n            data-bs-target=\"#accordion-panel-f531d204-b48f-4683-926d-fe647b143266\"\n        >\n            <span class=\"accordion__title\">\n                                REACT: Rebalancing the Epitranscriptional landscape as an AdvanCed Therapy in SMA            <\/span>\n\n            <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--arrow-down \"><use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-down\"><\/use><\/svg>        <\/button>\n    <\/h3>\n    <div id=\"accordion-panel-f531d204-b48f-4683-926d-fe647b143266\"\n        class=\"accordion__collapse collapse\"\n        aria-labelledby=\"accordion-labelledby-f531d204-b48f-4683-926d-fe647b143266\"\n        data-bs-parent=\"[data-reference=&quot;db0e2cc3-9baf-4dac-aa25-ad21fb98d28b&quot;]\"\n    >\n        <div class=\"accordion__body \">\n            \n<ul class=\"wp-block-unilux-blocks-highlighted-list list-highlighted list-highlighted--course\"><li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"duration\"\n    >\nDuration:<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p>2025-2027<\/p>\n<\/div><\/div><\/li>\n\n<li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"funding-source\"\n    >\nFunding source:<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p>Cure SMA<\/p>\n<\/div><\/div><\/li>\n\n<li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"researchers\"\n    >\nResearchers:<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p><\/p>\n<\/div><\/div><\/li>\n\n<li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"partners\"\n    >\nPartners:<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p>Dr. Gabriella Viero, Prof. Marina Boido, Dr. Tobias Straub<\/p>\n<\/div><\/div><\/li>\n\n<li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"description\"\n    >\nDescription:<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p>Spinal muscular atrophy (SMA) is a neurodegenerative disease characterised by the loss of motor neurons in the spinal cord (1). Newly developed therapies for SMA have added years to the life expectancy of severely affected patients. As a result, new symptoms have emerged in treated patients, such as intellectual deficits (2), suggesting a complex pathological impact of the disease.<\/p>\n\n<p>In this project, funded by Cure SMA (https:\/\/www.curesma.org\/), we will investigate the role of the Survival Motor Neuron (SMN) protein in regulating the epitranscriptome and translatome required for higher cognition (3). To this end, we will integrate iCLIP data with ribosome profiling and SLAM-seq using SMN-deficient neurons and mouse brains.<\/p>\n\n<ol class=\"ulux-list\">\n<li class=\"ulux-list-item\">&nbsp;Mercuri E et al. Spinal muscular atrophy. Nat Rev Dis Primers. 2022 Aug 4;8(1):52. doi: 10.1038\/s41572-022-00380-8. PMID: 35927425.<\/li>\n\n\n\n<li class=\"ulux-list-item\">Baranello G; Neurodevelopment in SMA Working Group. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy. Eur J Paediatr Neurol. 2024 Jan;48:67-68. doi: 10.1016\/j.ejpn.2023.11.006.<\/li>\n<\/ol>\n\n<p>Shi H et al. m6A facilitates hippocampus-dependent learning and memory through YTHDF1. Nature. 2018 Nov;563(7730):249-253. doi: 10.1038\/s41586-018-0666-1.<\/p>\n\n<p><\/p>\n<\/div><\/div><\/li>\n\n<li class=\"list-highlighted__item  items-start wp-block-unilux-blocks-highlighted-list-item\">\n    <header class=\"list-highlighted__header wp-block-unilux-blocks-highlighted-list-item-header\">\n    \n<h4 class=\"title text-18 font-bold has-text-align-left wp-block-unilux-blocks-heading\"        id=\"project-details-pdf\"\n    >\nProject details (PDF):<\/h4>\n<div class=\"wp-block-unilux-blocks-bigtext\">\n    <span>\n        \n    <\/span>\n<\/div><\/header><div class=\"list-highlighted__body wp-block-unilux-blocks-highlighted-list-item-body\">\n    <div class=\"wp-block-unilux-blocks-highlighted-list-item-free-content-area\">\n    \n<p><\/p>\n<\/div><\/div><\/li><\/ul>\n        <\/div>\n    <\/div>\n<\/div><\/div>\n<\/div><\/section>\n\n\n\n<section class=\"py-0 wp-block-unilux-blocks-free-section section\"><div class=\"container xl:max-w-screen-xl\">\n<p><\/p>\n<\/div><\/section>\n\n\n<section class=\"section section wp-block-unilux-blocks-quick-link-discover-section\">\n    <div class=\"container xl:max-w-screen-xl\">\n        \n<h2 class=\"has-text-align-left wp-block-unilux-blocks-heading\"        id=\"discover-more\"\n    >\nDiscover more<\/h2>\n\n<ul class=\"wp-block-unilux-blocks-quick-link-discover quick-link-list\">\n<li class=\"wp-block-unilux-blocks-quick-link-discover-item\">\n    <a\n                    href=\"https:\/\/www.uni.lu\/lcsb-en\/research\/\"\n                    class=\"quick-link\"\n            target=\"\"\n    >\n            <span class=\"quick-link__container\">\n                <span class=\"quick-link__text\">\n                    Research at the LCSB                 <\/span>\n                <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--arrow-right \"><use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-right\"><\/use><\/svg>            <\/span>\n    <\/a>\n<\/li>\n\n\n\n<li class=\"wp-block-unilux-blocks-quick-link-discover-item\">\n    <a\n                    href=\"https:\/\/www.uni.lu\/lcsb-en\/join-us\/\"\n                    class=\"quick-link\"\n            target=\"\"\n    >\n            <span class=\"quick-link__container\">\n                <span class=\"quick-link__text\">\n                    Join us                <\/span>\n                <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--arrow-right \"><use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-right\"><\/use><\/svg>            <\/span>\n    <\/a>\n<\/li>\n\n\n\n<li class=\"wp-block-unilux-blocks-quick-link-discover-item\">\n    <a\n                    href=\"https:\/\/www.uni.lu\/lcsb-en\/contact\/\"\n                    class=\"quick-link\"\n            target=\"\"\n    >\n            <span class=\"quick-link__container\">\n                <span class=\"quick-link__text\">\n                    Contact us                 <\/span>\n                <svg aria-hidden=\"true\" focusable=\"false\" class=\"icon icon-outline icon--arrow-right \"><use xlink:href=\"https:\/\/www.uni.lu\/wp-content\/themes\/unilux-theme\/assets\/images\/icons\/icons-outline.svg#icon--arrow-right\"><\/use><\/svg>            <\/span>\n    <\/a>\n<\/li>\n<\/ul>\n    <\/div>\n<\/section><\/div>","protected":false},"excerpt":{"rendered":"<p>The biology of disease is centred on the loss or gain of protein function caused by mutations that alter the protein sequence. Although these mutations undoubtedly contribute to the pathology of disorders, a unifying model of the underlying molecular mechanisms of these diseases is largely lacking. 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