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Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, You-Kyung | - |
dc.contributor.author | Lee, Soo-Kyeong | - |
dc.contributor.author | Choi, Suin | - |
dc.contributor.author | Huh, Yang Hoon | - |
dc.contributor.author | Kwak, Ji-Hye | - |
dc.contributor.author | Lee, Yong-Seok | - |
dc.contributor.author | Jang, Deok-Jin | - |
dc.contributor.author | Lee, Jae-Hyung | - |
dc.contributor.author | Lee, Kyungmin | - |
dc.contributor.author | Kaang, Bong-Kiun | - |
dc.contributor.author | Lim, Chae-Seok | - |
dc.contributor.author | Lee, Jin-A | - |
dc.date.accessioned | 2020-08-31T00:21:50Z | - |
dc.date.available | 2020-08-31T00:21:50Z | - |
dc.date.issued | 2020-05-06 | - |
dc.identifier.citation | Molecular Brain, 13(1):69 | ko_KR |
dc.identifier.issn | 1756-6606 | - |
dc.identifier.uri | https://hdl.handle.net/10371/168771 | - |
dc.description.abstract | Significant clinical symptoms of Cohen syndrome (CS), a rare autosomal recessive disorder, include intellectual disability, facial dysmorphism, postnatal microcephaly, retinal dystrophy, and intermittent neutropenia. CS has been associated with mutations in the VPS13B (vacuolar protein sorting 13 homolog B) gene, which regulates vesicle-mediated protein sorting and transport; however, the cellular mechanism underlying CS pathogenesis in patient-derived neurons remains uncertain. This report states that autophagic vacuoles accumulate in CS fibroblasts and the axonal terminals of CS patient-specific induced pluripotent stem cells (CS iPSC)-derived neurons; additionally, autophagic flux was significantly increased in CS-derived neurons compared to control neurons. VPS13B knockout HeLa cell lines generated using the CRISPR/Cas9 genome editing system showed significant upregulation of autophagic flux, indicating that VSP13B may be associated with autophagy in CS. Transcriptomic analysis focusing on the autophagy pathway revealed that genes associated with autophagosome organization were dysregulated in CS-derived neurons. ATG4C is a mammalian ATG4 paralog and a crucial regulatory component of the autophagosome biogenesis/recycling pathway. ATG4C was significantly upregulated in CS-derived neurons, indicating that autophagy is upregulated in CS neurons. The autophagy pathway in CS neurons may be associated with the pathophysiology exhibited in the neural network of CS patients. | ko_KR |
dc.description.sponsorship | This work was supported by National Research Foundation (NRF2017R1D1A3B03030972), the National Honor Scientist Program, the Korea
Health Technology R&D Project (HI18C0158), and the Bio & Medical Technology Development Program of the National Research Foundation (NRF) funded by the Ministry of Science & ICT (2017M3A9G7073521) to J.-A L. | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BMC | ko_KR |
dc.subject | Cohen syndrome | - |
dc.subject | Autophagy | - |
dc.subject | VPS13B | - |
dc.subject | iPSC | - |
dc.title | Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 이유경 | - |
dc.contributor.AlternativeAuthor | 이수경 | - |
dc.contributor.AlternativeAuthor | 최수인 | - |
dc.contributor.AlternativeAuthor | 허양훈 | - |
dc.contributor.AlternativeAuthor | 곽지혜 | - |
dc.contributor.AlternativeAuthor | 이용석 | - |
dc.contributor.AlternativeAuthor | 장덕진 | - |
dc.contributor.AlternativeAuthor | 이재형 | - |
dc.contributor.AlternativeAuthor | 이경민 | - |
dc.contributor.AlternativeAuthor | 강봉균 | - |
dc.contributor.AlternativeAuthor | 임채석 | - |
dc.contributor.AlternativeAuthor | 이진아 | - |
dc.identifier.doi | 10.1186/s13041-020-00611-7 | - |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s) | - |
dc.date.updated | 2020-06-17T13:14:28Z | - |
dc.citation.endpage | 72 | ko_KR |
dc.citation.number | 1 | ko_KR |
dc.citation.startpage | 69 | ko_KR |
dc.citation.volume | 13 | ko_KR |
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