Amyotrophic lateral sclerosis is a devastating neurodegenerative disease with a complex genetic basis, presenting both in familial and sporadic forms. The hexanucleotide (G<sub>4</sub>C<sub>2</sub>) repeat expansion in the C9or...
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https://www.riss.kr/link?id=A109052910
Davin Lee (DGIST) ; Hae Chan Jeong (DGIST) ; Seung Yeol Kim (SK Biopharmaceuticals Co., Ltd.) ; Jin Yong Chung (SK Biopharmaceuticals Co., Ltd.) ; Seok Hwan Cho (SK Biopharmaceuticals Co., Ltd.) ; Kyoung Ah Kim (Daegu Gyeongbuk Institute of Science and Technology (DGIST)) ; Jae Ho Cho (Daegu Gyeongbuk Institute of Science and Technology (DGIST)) ; Byung Su Ko (Daegu Gyeongbuk Institute of Science and Technology (DGIST)) ; In Jun Cha ; Chang Geon Chung (DGIST) ; Eun Seon Kim (DGIST) ; Sung Bae Lee (DGIST)
2024
English
KCI등재,SCOPUS,SCIE
학술저널
1000051-10000(-990050쪽)
0
상세조회0
다운로드다국어 초록 (Multilingual Abstract)
Amyotrophic lateral sclerosis is a devastating neurodegenerative disease with a complex genetic basis, presenting both in familial and sporadic forms. The hexanucleotide (G<sub>4</sub>C<sub>2</sub>) repeat expansion in the C9or...
Amyotrophic lateral sclerosis is a devastating neurodegenerative disease with a complex genetic basis, presenting both in familial and sporadic forms. The hexanucleotide (G<sub>4</sub>C<sub>2</sub>) repeat expansion in the C9orf72 gene, which triggers distinct pathogenic mechanisms, has been identified as a major contributor to familial and sporadic Amyotrophic lateral sclerosis cases. Animal models have proven pivotal in understanding these mechanisms; however, discrepancies between models due to variable transgene sequence, expression levels, and toxicity profiles complicate the translation of findings. Herein, we provide a systematic comparison of 7 publicly available Drosophila transgenes modeling the G<sub>4</sub>C<sub>2</sub> expansion under uniform conditions, evaluating variations in their toxicity profiles. Further, we tested 3 previously characterized disease-modifying drugs in selected lines to uncover discrepancies among the tested strains. Our study not only deepens our understanding of the C9orf72 G<sub>4</sub>C<sub>2</sub> mutations but also presents a framework for comparing constructs with minute structural differences. This work may be used to inform experimental designs to better model disease mechanisms and help guide the development of targeted interventions for neurodegenerative diseases, thus bridging the gap between model-based research and therapeutic application.
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