| Title: | Protein aggregation in progressive myoclonus epilepsies and related syndromes |
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| Authors: | ID Žerovnik, Eva, Institut "Jožef Stefan" (Author) |
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| Files: |  URL - Source URL, visit https://www.explorationpub.com/Journals/en/Article/1006136
 PDF - Presentation file, download (938,66 KB)
MD5: D01DB8B3CA0FFF755356093AAF153BAA
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| Language: | English |
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| Typology: | 1.02 - Review Article |
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| Organization: |  IJS - Jožef Stefan Institute
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| Abstract: | For this review paper, data on protein misfolding and aggregation in progressive myoclonus epilepsies and some developmental encephalopathies are gathered. There is evidence that in some cases of monogenic epilepsies, misfolding of the mutated protein takes place, often leading to protein aggregation. On one hand, protein aggregation reduces the amount of protein and its activity; on the other, it exerts generic toxicity to neurons. Understanding the molecular causes due to loss of normal function and gain of toxic function of the mutated aggregate-prone proteins is important to obtain new therapies. By observing the symptomatology of progressive and developmental epileptic syndromes, one can derive some conclusions about the relevance of protein misfolding and aggregation in the picture. A plausible view seems that the most severe symptoms of dementia, behavioral and psychiatric symptoms, are linked to protein aggregation and downstream effects on cellular degradation and energy systems. Finally, I discuss the potential of targeting the proteostasis network to develop novel anti-seizure and neuroprotective therapies. |
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| Keywords: | neurodegeneration, protein aggregation, protein misfolding, progressive myoclonus epilepsies, developmental ecephalopaties |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Submitted for review: | 13.02.2026 |
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| Article acceptance date: | 30.03.2026 |
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| Publication date: | 08.05.2026 |
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| Publisher: | Open Exploration Publishing |
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| Year of publishing: | 2026 |
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| Number of pages: | str. 1-13 |
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| Numbering: | Vol. 5, [article no.] 1006136 |
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| Source: | ZDA |
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| PID: | 20.500.12556/DiRROS-29379  |
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| UDC: | 577 |
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| ISSN on article: | 2834-5347 |
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| DOI: | 10.37349/en.2026.1006136 |
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| COBISS.SI-ID: | 277707267 |
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| Copyright: | © The Author(s) 2026. |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 11. 5. 2026;
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| Publication date in DiRROS: | 13.05.2026 |
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| Views: | 116 |
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| Downloads: | 87 |
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| Metadata: |    |
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