{"id":{"repo_id":"radboud","oai_identifier":"oai:repository.ubn.ru.nl:2066/329214"},"canonical_url":"https://search.dev.ndltd.org/etd/radboud/oai:repository.ubn.ru.nl:2066/329214","repository":{"repo_id":"radboud","name":"Radboud University Nijmegen","base_url":"https://repository.ubn.ru.nl/oai/request"},"display":{"title":"Restoring the Balance: Unraveling disease mechanisms and exploring shared therapies for lysine metabolism disorders using human neural models","abstract":"Contains fulltext : 329214.pdf (Publisher’s version ) (Closed access)","abstract_html":"Contains fulltext : 329214.pdf (Publisher’s version ) (Closed access)","abstract_has_math":false,"creators":["Schuurmans, M.S."],"institution":"S.l. : s.n.","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":["Karnebeek, C.D. van","Nadif Kasri, N.","Garanto, A."],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2026,"date_issued":"2026","date_published":"2026","updated_at":"2026-07-24T04:03:24Z","subjects":["Medical Imaging - Radboud University Medical Center","Paediatrics - Radboud University Medical Center"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[{"key":"dc:identifier","label":"Identifier","values":["9789493483958"],"render_values":[{"text":"9789493483958","href":null,"code":true}]}]},"links":{"outbound_url":"https://hdl.handle.net/2066/329214","outbound_label":"Handle","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["Karnebeek, C.D. van","Nadif Kasri, N.","Garanto, A."]},{"key":"dc:creator","label":"Author","values":["Schuurmans, M.S."]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["2026"]},{"key":"dc:publisher","label":"Institution","values":["S.l. : s.n."]},{"key":"dc:type","label":"Dc Type","values":["Doctoral thesis"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Medical Imaging - Radboud University Medical Center","Paediatrics - Radboud University Medical Center"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://hdl.handle.net/2066/329214","9789493483958"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["Contains fulltext : 329214.pdf (Publisher’s version ) (Closed access)","Rare metabolic disorders such as pyridoxine-dependent epilepsy (PDE) and glutaric aciduria type I (GA1) cause severe epilepsy and permanent brain damage in young children. Effective treatments are largely lacking. This research developed patient-specific brain cell models and a new, efficient way to generate these brain cells. This allowed the diseases to be accurately modelled and provided better insight into how toxic metabolies accumulate and disrupt brain cell function. In addition, a novel therapeutic strategy was tested that partially slows the breakdown of lysine, an amino acid. This reduced toxic metabolites and restored key brain cell functions, pointing to a potential shared treatment for multiple lysine metabolism disorders. The study also shows that lysine itself plays an active role in communication between brain cells. These insights open new avenues for understanding and treating rare brain disorders.","Radboud University, 30 maart 2026","Promotores : Karnebeek, C.D. van, Nadif Kasri, N. Co-promotor : Garanto, A.","456 p."]},{"key":"dc:title","label":"Title","values":["Restoring the Balance: Unraveling disease mechanisms and exploring shared therapies for lysine metabolism disorders using human neural models"]}]}],"canonical_facts":{"dc:contributor":["Karnebeek, C.D. van","Nadif Kasri, N.","Garanto, A."],"dc:creator":["Schuurmans, M.S."],"dc:date":["2026"],"dc:description":["Contains fulltext : 329214.pdf (Publisher’s version ) (Closed access)","Rare metabolic disorders such as pyridoxine-dependent epilepsy (PDE) and glutaric aciduria type I (GA1) cause severe epilepsy and permanent brain damage in young children. Effective treatments are largely lacking. This research developed patient-specific brain cell models and a new, efficient way to generate these brain cells. This allowed the diseases to be accurately modelled and provided better insight into how toxic metabolies accumulate and disrupt brain cell function. In addition, a novel therapeutic strategy was tested that partially slows the breakdown of lysine, an amino acid. This reduced toxic metabolites and restored key brain cell functions, pointing to a potential shared treatment for multiple lysine metabolism disorders. The study also shows that lysine itself plays an active role in communication between brain cells. These insights open new avenues for understanding and treating rare brain disorders.","Radboud University, 30 maart 2026","Promotores : Karnebeek, C.D. van, Nadif Kasri, N. 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