Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells
文献类型：期刊论文
| 作者 | Yang, Yeming3; Sun, Kuanxiang3; Liu, Wenjing3; Zhang, Lin3; Peng, Kun3; Zhang, Shanshan3; Li, Shujin1; Yang, Mu1; Jiang, Zhilin3,4; Lu, Fang3 |
| 刊名 | CELL DEATH & DISEASE
 |
| 出版日期 | 2019-09-05 |
| 卷号 | 9页码:899 |
| ISSN号 | 2041-4889 |
| DOI | 10.1038/s41419-018-0938-6 |
| 产权排序 | 2 |
| 文献子类 | Article |
| 英文摘要 | Phospholipids are asymmetrically distributed across mammalian plasma membrane with phosphatidylserine (PS) and phosphatidylethanolamine concentrated in the cytoplasmic leaflet of the membrane bilayer. This asymmetric distribution is dependent on a group of P4-ATPases named PS flippases. The proper transport and function of PS flippases require a beta-subunit transmembrane protein 30 A (TMEM30A). Disruption of PS flippases led to several human diseases. However, the roles of TMEM30A in the central nervous system remain elusive. To investigate the role of Tmem30a in the cerebellum, we developed a Tmem30a Purkinje cell (PC)-specific knockout (KO) mouse model. The Tmem30a KO mice displayed early-onset ataxia and progressive PC death. Deficiency in Tmem30a led to an increased expression of Glial fibrillary acidic protein and astrogliosis in regions with PC loss. Elevated C/EBP homologous protein and BiP expression levels indicated the presence of endoplasmic reticulum stress in the PCs prior to visible cell loss. Terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) analysis suggested that apoptotic cell death occurred in the cerebellum. Our data demonstrate that loss of Tmem30a in PCs results in protein folding and transport defects, a substantial decrease in dendritic spine density, increased astrogliosis and PC death. Taken together, our data demonstrate an essential role of Tmem30a in the cerebellum PCs. |
| 学科主题 | Cell ; Developmental Biology |
| URL标识 | 查看原文 |
| WOS关键词 | P-TYPE ATPASE ; PUTATIVE AMINOPHOSPHOLIPID TRANSLOCASE ; PHOSPHOLIPID FLIPPASE ; BETA-SUBUNIT ; PROTEIN ; EXPRESSION ; PHOSPHATIDYLSERINE ; MEMBRANE ; CDC50A ; ATP8A2 |
| WOS研究方向 | Cell Biology |
| 语种 | 英语 |
| WOS记录号 | WOS:000444827800002 |
| 出版者 | NATURE PUBLISHING GROUP |
| 源URL | [http://210.75.237.14/handle/351003/30158]  |
| 专题 | 国家天然药物工程技术研究中心_天然产物研究 天然产物研究中心_中国科学院四川转化医学研究院 |
| 作者单位 | 1.Chengdu Institute of Biology, Sichuan Translational Medicine Research Hospital, Chinese Academy of Sciences,Chengdu, China; 2.Institute of Laboratory Animal Sciences, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan, China 3.Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China; 4.Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, Sichuan, China; |
| 推荐引用方式 GB/T 7714 | Yang, Yeming,Sun, Kuanxiang,Liu, Wenjing,et al. Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells[J]. CELL DEATH & DISEASE,2019,9:899. |
| APA | Yang, Yeming.,Sun, Kuanxiang.,Liu, Wenjing.,Zhang, Lin.,Peng, Kun.,...&Zhu, Xianjun.(2019).Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells.CELL DEATH & DISEASE,9,899. |
| MLA | Yang, Yeming,et al."Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells".CELL DEATH & DISEASE 9(2019):899. |
入库方式： OAI收割
来源：成都生物研究所
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