STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research
STXBP1 syndrome is a severe early-onset epileptic encephalopathy characterized by developmental delay and intellectual disability. This review addresses key challenges in STXBP1 syndrome research, focusing on advanced therapeutic approaches and experimental models. We explore gene therapy strategies...
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MDPI AG
2025-02-01
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| Series: | BioTech |
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| Online Access: | https://www.mdpi.com/2673-6284/14/1/11 |
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| author | Silvestre Ruano-Rodríguez Mar Navarro-Alonso Benito Domínguez-Velasco Manuel Álvarez-Dolado Francisco J. Esteban |
| author_facet | Silvestre Ruano-Rodríguez Mar Navarro-Alonso Benito Domínguez-Velasco Manuel Álvarez-Dolado Francisco J. Esteban |
| author_sort | Silvestre Ruano-Rodríguez |
| collection | DOAJ |
| description | STXBP1 syndrome is a severe early-onset epileptic encephalopathy characterized by developmental delay and intellectual disability. This review addresses key challenges in STXBP1 syndrome research, focusing on advanced therapeutic approaches and experimental models. We explore gene therapy strategies, including CRISPR-Cas9, adeno-associated viral (AAV) vectors, and RNA therapies such as antisense oligonucleotides (ASOs), aimed at correcting STXBP1 genetic dysfunctions. This review presents in vivo and in vitro models, highlighting their contributions to understanding disease mechanisms. Additionally, we provide a proposal for a detailed bioinformatic analysis of a Spanish cohort of 41 individuals with STXBP1-related disorders, offering insights into specific mutations and their biological implications. Clinical and translational perspectives are discussed, emphasizing the potential of personalized medicine approaches. Future research directions and key challenges are outlined, including the identification of STXBP1 interactors, unexplored molecular pathways, and the need for clinically useful biomarkers. This comprehensive review underscores the complexity of STXBP1-related infantile epileptic encephalopathy and opens new avenues for advancing the understanding and treatment of this heterogeneous disease. |
| format | Article |
| id | doaj-art-17e35c0acddd48b9b2f8216031fb29c7 |
| institution | Kabale University |
| issn | 2673-6284 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | BioTech |
| spelling | doaj-art-17e35c0acddd48b9b2f8216031fb29c72025-08-20T03:43:33ZengMDPI AGBioTech2673-62842025-02-011411110.3390/biotech14010011STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational ResearchSilvestre Ruano-Rodríguez0Mar Navarro-Alonso1Benito Domínguez-Velasco2Manuel Álvarez-Dolado3Francisco J. Esteban4Andalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), CSIC-US-JA-UPO, Américo Vespuccio Avenue 24, Cartuja Scientific and Technological Park, 41092 Seville, SpainAndalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), CSIC-US-JA-UPO, Américo Vespuccio Avenue 24, Cartuja Scientific and Technological Park, 41092 Seville, SpainAndalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), CSIC-US-JA-UPO, Américo Vespuccio Avenue 24, Cartuja Scientific and Technological Park, 41092 Seville, SpainAndalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), CSIC-US-JA-UPO, Américo Vespuccio Avenue 24, Cartuja Scientific and Technological Park, 41092 Seville, SpainSystems Biology Unit, Department of Experimental Biology, University of Jaén, Campus Las Lagunillas s/n, 23071 Jaén, SpainSTXBP1 syndrome is a severe early-onset epileptic encephalopathy characterized by developmental delay and intellectual disability. This review addresses key challenges in STXBP1 syndrome research, focusing on advanced therapeutic approaches and experimental models. We explore gene therapy strategies, including CRISPR-Cas9, adeno-associated viral (AAV) vectors, and RNA therapies such as antisense oligonucleotides (ASOs), aimed at correcting STXBP1 genetic dysfunctions. This review presents in vivo and in vitro models, highlighting their contributions to understanding disease mechanisms. Additionally, we provide a proposal for a detailed bioinformatic analysis of a Spanish cohort of 41 individuals with STXBP1-related disorders, offering insights into specific mutations and their biological implications. Clinical and translational perspectives are discussed, emphasizing the potential of personalized medicine approaches. Future research directions and key challenges are outlined, including the identification of STXBP1 interactors, unexplored molecular pathways, and the need for clinically useful biomarkers. This comprehensive review underscores the complexity of STXBP1-related infantile epileptic encephalopathy and opens new avenues for advancing the understanding and treatment of this heterogeneous disease.https://www.mdpi.com/2673-6284/14/1/11antisense oligonucleotidesbioinformaticsepilepsygene and cell therapygenomicshaploinsufficiency |
| spellingShingle | Silvestre Ruano-Rodríguez Mar Navarro-Alonso Benito Domínguez-Velasco Manuel Álvarez-Dolado Francisco J. Esteban STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research BioTech antisense oligonucleotides bioinformatics epilepsy gene and cell therapy genomics haploinsufficiency |
| title | STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research |
| title_full | STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research |
| title_fullStr | STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research |
| title_full_unstemmed | STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research |
| title_short | STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research |
| title_sort | stxbp1 syndrome biotechnological advances challenges and perspectives in gene therapy experimental models and translational research |
| topic | antisense oligonucleotides bioinformatics epilepsy gene and cell therapy genomics haploinsufficiency |
| url | https://www.mdpi.com/2673-6284/14/1/11 |
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