Publications

 

 

1. Disruption of ER ion homeostasis maintained by an ER anion channel leads to ALS-like pathology. Liang Guo, Qionglei Mao, Ji He, Xiaoling Liu, Xuejiao Piao, Li Luo, Xiaoxu Hao, Bailong Xiao, Dongsheng Fan, Zhaobing Gao, and Yichang Jia. Cell Research. 2023 May 04. doi:10.1038/s41422-023-00798-z. PMID: 37142673.  VIEW>>

Highlight: Characterizing an ER-localized chloride channel that maintains ER ion homeostasis and linking its dysfunction to ALS (Co-corresponding author).  

 

 

 

2. A molecular brake that modulates spliceosome pausing at detained introns contributes to neurodegeneration. Dawei Meng, Qian Zheng, Xue Zhang, Li Luo, and Yichang Jia. Protein & Cell. 2023 May 08;14(5):318-336. PMID: 37027487. VIEW>>

Highlight: Demonstrating that spliceosome pausing in Bact status at detained intron, which is a new disease mechanism underlying neurodegeneration and neurodevelopmental disorders (Corresponding author). 

 

 

 

3. TCF7L2 acts as a molecular switch in midbrain to control mammal vocalization through its DNA binding domain but not transcription activation domain. Huihui Qi, Li Luo, Caijing Lu, Runze Chen, Xiaohui Zhang, and Yichang Jia. Molecular Psychiatry. 2023 Feb 13. doi: 10.1038/s41380-023-01993-5. PMID: 36782064. VIEW>>

Highlight: Identifying TCF7L2 as a key transcriptional factor in the midbrain that regulates mammal vocalization from mouse to human (Corresponding author).  

 

 

 

4. Dual-gRNA approach with limited off-target effect corrects C9ORF72 repeat expansion in vivo. Xuejiao Piao, Dawei Meng, Xue Zhang, Qiang Song, Hailong Lv, and Yichang Jia. Sci Rep. 2022 Apr 5;12(1):5672. doi: 10.1038/s41598-022-07746-8. PMID: 35383205. VIEW>>

Highlight: Providing, for the first time, in vivo evidence that a less off-target approach corrects one of the disease pathologies in a C9ORF72 repeat expansion ALS mouse model (Corresponding author).  

 

 

 

5. In vivo stress granule misprocessing evidenced in a FUS knock-in ALS mouse model. Zhang X, Wang F, Hu Y, Chen R, Meng D, Guo L, Lv H, Guan J, Jia Y. Brain. 2020 May 1. doi: 10.1093/brain/awaa076. PMID: 32358598. VIEW>>

Highlight: Providing in vivo evidence for the first time that stress granule misprocessing is pathogenic in a national FUS knock-in ALS mouse model (Corresponding author).  

 

 

 

6.  An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription. Chen RZ, Cheng X, Tan Y, Chang TC, Lv H, Jia Y. Sci Rep. 2020 Feb 12;10(1):2501. doi: 10.1038/s41598-020-59455-9. PMID: 32051525. VIEW>>

Highlight: Establishing an ENU-induced mutagenesis screening at Tsinghua University for desired phenotypes in mice (Corresponding author). 

 

 

 

7. Loss of Clcc1 results in ER stress, misfolded protein accumulation, and neurodegeneration. Jia Y, Jucius TJ, Cook SA, Ackerman SL. J Neurosci. 2015 Feb 18;35(7):3001-9. doi: 10.1523/JNEUROSCI.3678-14.2015. PMID: 25698737. VIEW>>

 

 

 

8. Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration. Jia Y, Mu JC, Ackerman SL. Cell. 2012 Jan 20;148(1-2):296-308. doi: 10.1016/j.cell.2011.11.057. PMID: 22265417. VIEW>>

Highlight: Identifying a mutation of a U2 snRNA gene that causes global disruption of alternative splicing and neurodegeneration by mouse forward genetics approach.  

 

 

 

9. TRPC channels promote cerebellar granule neuron survival. Jia Y, Zhou J, Tai Y, Wang Y. Nat Neurosci. 2007 May;10(5):559-67. PMID: 17396124. VIEW>>

Highlight: Demonstrating that TRPC3/6 contributes to BDNF/TrkB-mediated neuronal survival.

 

 

 

10. Critical role of TRPC6 channels in the formation of excitatory synapses. Zhou J, Du W, Zhou K, Tai Y, Yao H, Jia Y, Ding Y, Wang Y. Nat Neurosci. 2008 Jul;11(7):741-3. doi: 10.1038/nn.2127. PMID:18516035. VIEW>>

 

 

 

11. Essential role of TRPC channels in the guidance of nerve growth cones by brain-derived neurotrophic factor. Li Y, Jia YC, Cui K, Li N, Zheng ZY, Wang YZ, Yuan XB. Nature. 2005 Apr 14;434(7035):894-8. PMID: 15758952. VIEW>>

Highlight: Demonstrating that TRPC channels contribute to BDNF-induced elevation of Ca2+ at the growth cone and are required for BDNF-induced chemo-attractive turning (Co-first author).