Zobrazeno 1 - 10
of 345
pro vyhledávání: '"Min-Xin Guan"'
Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations
Autor:
Chao Chen, Min-Xin Guan
Publikováno v:
Journal of Biomedical Science, Vol 30, Iss 1, Pp 1-15 (2023)
Abstract Mitochondria are essential organelles for cellular metabolism and physiology in eukaryotic cells. Human mitochondria have their own genome (mtDNA), which is maternally inherited with 37 genes, encoding 13 polypeptides for oxidative phosphory
Externí odkaz:
https://doaj.org/article/a0a3e179970d4d8d9c1085976cd29370
Publikováno v:
iScience, Vol 27, Iss 2, Pp 108883- (2024)
Summary: Mitochondria are dynamic organelles in cellular metabolism and physiology. Mitochondrial DNA (mtDNA) mutations are associated with a broad spectrum of clinical abnormalities. However, mechanisms underlying mtDNA mutations regulate intracellu
Externí odkaz:
https://doaj.org/article/eb708d73cd5b48f6af30efdd3a6daa46
Autor:
Jing Wang, Yanchun Ji, Cheng Ai, Jia-Rong Chen, Dingyi Gan, Juanjuan Zhang, Jun Q. Mo, Min-Xin Guan
Publikováno v:
Journal of Biomedical Science, Vol 30, Iss 1, Pp 1-17 (2023)
Abstract Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited eye disease due to mutations in mitochondrial DNA. However, there is no effective treatment for this disease. LHON-linked ND6 14484T > C (p.M64V) mutation caus
Externí odkaz:
https://doaj.org/article/88f101b335bf4e43ae57e28557b88262
Autor:
Shu Yang, Bing-Lin Xie, Xiao-ping Dong, Ling-xiang Wang, Gang-hua Zhu, Tian Wang, Wei-jing Wu, Ruo-sha Lai, Rong Tao, Min-xin Guan, Fang-yi Chen, Dong-hui Tan, Zhong Deng, Hua-ping Xie, Yong Zeng, Zi-an Xiao, Ding-hua Xie
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
IntroductionThe pathogenic gene CDH23 plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction in the hair cells. However, the underlying molecular mechanism and signal regulatory networks that influence deafness i
Externí odkaz:
https://doaj.org/article/18ffc48731fe4a23ace54779a32202a2
Autor:
Liang Chen, Yucong Wang, Jiamei Lin, Zhenxing Song, Qinwei Wang, Wenfang Zhao, Yan Wang, Xiaoyu Xiu, Yuqi Deng, Xiuzhi Li, Qiqi Li, Xiaolin Wang, Jingxin Li, Xu Liu, Kunpeng Liu, Jincong Zhou, Kuan Li, Yuchan Liu, Shanhui Liao, Qin Deng, Chao Xu, Qianwen Sun, Shengzhou Wu, Kaiming Zhang, Min-Xin Guan, Tianhua Zhou, Fei Sun, Xiujun Cai, Chuan Huang, Ge Shan
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
This study identifies the evolutionarily conserved Exportin 4 as an essential regulator in the nuclear export of circRNAs. Defective circRNA export results in R-loop formation and DNA damage in cells, as well as testis and neurological defects in mic
Externí odkaz:
https://doaj.org/article/bcca5f3009f14c1daba6d2c1908d957c
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 20, Iss , Pp 1829-1840 (2022)
The ADP/ATP carrier (AAC) is crucial for mitochondrial functions by importing ADP and exporting ATP across the inner mitochondrial membrane. However, the mechanism of highly specific ADP recognition and transport by AAC remains largely elusive. In th
Externí odkaz:
https://doaj.org/article/2445a9f3c26f42d58bbda28fa52cf481
Autor:
Chengxian Xu, Lingxiao Tong, Jia Rao, Qing Ye, Yuxia Chen, Yingying Zhang, Jie Xu, Xiaoting Mao, Feilong Meng, Huijun Shen, Zhihong Lu, Xiaohui Cang, Haidong Fu, Shugang Wang, Weiyue Gu, En-Yin Lai, Min-Xin Guan, Pingping Jiang, Jianhua Mao
Publikováno v:
JCI Insight, Vol 7, Iss 11 (2022)
Inherited kidney diseases are the fifth most common cause of end-stage renal disease (ESRD). Mitochondrial dysfunction plays a vital role in the progression of inherited kidney diseases, while mitochondrial-transfer RNA (mt-tRNA) variants and their p
Externí odkaz:
https://doaj.org/article/286b853126764869b70ca5a635131c91
Autor:
Shu Zhao, Jia Shi, Guohua Yu, Dali Li, Meng Wang, Chonggang Yuan, Huihui Zhou, Amirabbas Parizadeh, Zhenlin Li, Min-Xin Guan, Shixin Ye
Publikováno v:
Communications Biology, Vol 3, Iss 1, Pp 1-11 (2020)
Using genetic code expansion, Zhao, Shi et al. generate light-sensitive tyrosine analogues to obtain insights into the activation of the NGF receptor, TrkA. They identify light-sensitive and NGF-insensitive phosphorylation sites, validating the appro
Externí odkaz:
https://doaj.org/article/701e78398bee489f8d0e44ae55b19fcc
Publikováno v:
Mitochondrial DNA. Part B. Resources, Vol 4, Iss 2, Pp 2266-2280 (2019)
Leber’s hereditary optic neuropathy (LHON) is a maternally inherited eye disease. In our previous investigations, we have reported the spectrum and frequency of mitochondrial MT-ND1, MT-ND4 and MT-ND6 gene in Chinese LHON population. This study aim
Externí odkaz:
https://doaj.org/article/a465b536226a46368c3e49935bcdfd54
Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss
Autor:
Limei Cui, Jing Zheng, Qiong Zhao, Jia-Rong Chen, Hanqing Liu, Guanghua Peng, Yue Wu, Chao Chen, Qiufen He, Haosong Shi, Shankai Yin, Rick A. Friedman, Ye Chen, Min-Xin Guan
Publikováno v:
JCI Insight, Vol 5, Iss 23 (2020)
The pathophysiology underlying spiral ganglion cell defect–induced deafness remains elusive. Using the whole exome sequencing approach, in combination with functional assays and a mouse disease model, we identified the potentially novel deafness-ca
Externí odkaz:
https://doaj.org/article/d7b9609d77224c7ba5b56f7c0d1119f2