CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model

Autor: Chun-jie Luan, Wenting Guo, Lei Chen, Xi-wei Wei, Yimin He, Yan Chen, Su-ying Dang, Robert Prior, Xihua Li, Ying Kuang, Zhu-gang Wang, Ludo Van Den Bosch, Ming-min Gu

Publikováno v: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-13 (2020)

Abstract Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders of the peripheral nervous system. CMT is subdivided into two main types: a demyelinating form, known as CMT1, and an axonal form, known as CMT2. Nearly 30 genes

Externí odkaz: https://doaj.org/article/4c8ab53364e14d9a9fcd228a78837f96

CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model

Autor: Ying Kuang, Xihua Li, Zhugang Wang, Chun-jie Luan, Ming-min Gu, Yan Chen, Su-ying Dang, Xi-wei Wei, Yimin He, Wenting Guo, Ludo Van Den Bosch, Lei Chen, Robert Prior

Publikováno v: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-13 (2020)
Acta Neuropathologica Communications

Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders of the peripheral nervous system. CMT is subdivided into two main types: a demyelinating form, known as CMT1, and an axonal form, known as CMT2. Nearly 30 genes have bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::663b5eed818f7538d2340a0673fad96f
https://doi.org/10.1186/s40478-020-00901-0

Deletion of Gpr128 results in weight loss and increased intestinal contraction frequency

Autor: Hong-Xin Zhang, Su-ying Dang, Ying-yin Ni, Guohua Zhang, Shunyuan Lu, Fang Wang, Yan Chen, Zhugang Wang, Ming-min Gu, Jian Fei, Weifang Rong, Xiao-lin Wu, Yin Kuang, Biying Sun

AIM: To generate a Gpr128 gene knockout mouse model and to investigate its phenotypes and the biological function of the Gpr128 gene. METHODS: Bacterial artificial chromosome-retrieval methods were used for constructing the targeting vector. Using ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579dcf5c3e6fab0167c47009a100e84a
https://europepmc.org/articles/PMC3923024/

Deletion of Gpr128 results in weight loss and increased intestinal contraction frequency.

Autor: Ni YY; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Chen Y; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Lu SY; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Sun BY; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Wang F; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Wu XL; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Dang SY; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Zhang GH; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Zhang HX; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Kuang Y; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Fei J; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Gu MM; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Rong WF; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China., Wang ZG; Ying-Yin Ni, Yan Chen, Fang Wang, Xiao-Lin Wu, Su-Ying Dang, Ming-Min Gu, Zhu-Gang Wang, Department of Medical Genetics, E-Institutes of Shanghai Universities, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.

Publikováno v: World journal of gastroenterology [World J Gastroenterol] 2014 Jan 14; Vol. 20 (2), pp. 498-508.