Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model

Authors: Zhao, Miao, Cheng, Xuewen, Chen, Lei, Zeng, Yi-Heng, Lin, Kai-Jun, Li, Yun-Lu, Zheng, Ze-Hong, Huang, Xue-Jing, Zuo, Dan-Dan, Guo, Xin-Xin, Guo, Jun, He, Dian, Liu, Ying, Lin, Yu, Wang, Chong, Lv, Wen-Qi, Su, Hui-Zhen, Yao, Xiang-Ping, Ye, Zi-Ling, Chen, Xiao-Hong, Lu, Ying-Qian, Huang, Chen-Wei, Yang, Guang, Zhang, Yu-Xian, Lin, Min-Ting, Wang, Ning, Xiong, Zhi-Qi, Chen, Wan-Jin

Source: In Neuron 9 October 2024 112(19):3278-3294

Identification of SLC20A2 deletions in patients with primary familial brain calcification

Authors: Guo, Xin‐Xin, Su, Hui‐Zhen, Zou, Xiao‐Huan, Lai, Lu‐Lu, Lu, Ying‐Qian, Wang, Chong, Li, Yun‐Lu, Hong, Jing‐Mei, Zhao, Miao, Lin, Kun‐Xin, Lin, Jie, Zeng, Yi‐Heng, Yao, Xiang‐Ping, Wang, Ning, Chen, Wan‐Jin

Source: Clinical genetics. 96(1):53-60

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084011148.0x000001&indx=1&recIds=ETOCvdc_100084011148.0x000001

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

Authors: Dong, En-Lin, Wang, Chong, Wu, Shuang, Lu, Ying-Qian, Lin, Xiao-Hong, Su, Hui-Zhen, Zhao, Miao, He, Jin, Ma, Li-Xiang, Wang, Ning, Chen, Wan-Jin, Lin, Xiang

Source: Molecular neurodegeneration. 13(1):1-14

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100166741227.0x000001&indx=1&recIds=ETOCvdc_100166741227.0x000001

C.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy

Authors: Wu, Shuang, Li, Yun-Lu, Cheng, Ning-Yi, Wang, Chong, Dong, En-Lin, Lu, Ying-Qian, Li, Jin-Jing, Guo, Xin-Xin, Lin, Xiang, Lai, Lu-Lu, Liu, Zhi-Wei, Wang, Ning, Chen, Wan-Jin

Source: Journal of molecular neuroscience. 65(2):196-202

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128509547.0x000001&indx=1&recIds=ETOCvdc_100128509547.0x000001

Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification

Authors: Yao, Xiang-Ping, Wang, Chong, Su, Hui-Zhen, Guo, Xin-Xin, Lu, Ying-qian, Zhao, Miao, Liu, Yao-Bin, Lai, Jing-Hui, Chen, Hai-Ting, Wang, Ning, Chen, Wan-Jin

Source: Gene. 597:17-22

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100047787051.0x000001&indx=1&recIds=ETOCvdc_100047787051.0x000001

Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76)

Authors: Lu, Ying-qian, Dong, En-lin, Yang, Wei-qi, Lai, Lu-lu, Lin, Xiao-hong, Ma, Li-xiang, Chen, Wan-jin, Wang, Ning, Lin, Xiang

Source: Stem cell research. 34

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081263075.0x000001&indx=1&recIds=ETOCvdc_100081263075.0x000001

Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p. R133C in MeCP2

Authors: Guo, Yu, Li, Jiaqi, Xie, Wenyi, Huang, Huaping, Li, Jin-Jing, Lin, Wanhui, Lu, Ying-Qian

Source: In Stem Cell Research February 2024 74

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

Authors: Yao, Xiang-Ping, Cheng, Xuewen, Wang, Chong, Zhao, Miao, Guo, Xin-Xin, Su, Hui-Zhen, Lai, Lu-Lu, Zou, Xiao-Huan, Chen, Xue-Jiao, Zhao, Yuying, Dong, En-Lin, Lu, Ying-Qian, Wu, Shuang, Li, Xiaojuan, Fan, Gaofeng, Yu, Hongjie, Xu, Jianfeng, Wang, Ning, Xiong, Zhi-Qi, Chen, Wan-Jin

Source: Neuron. 98(6):1116-1123.e5

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131036372.0x000001&indx=1&recIds=ETOCvdc_100131036372.0x000001

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.

Authors: Zhao, Miao, Su, Hui-Zhen, Zeng, Yi-Heng, Sun, Yuan, Guo, Xin-Xin, Li, Yun-Lu, Wang, Chong, Zhao, Zhi-Yuan, Huang, Xue-Jing, Lin, Kai-Jun, Ye, Zi-Ling, Lin, Bi-Wei, Hong, Shunyan, Zheng, Jitan, Liu, Yao-Bin, Yao, Xiang-Ping, Yang, Dehao, Lu, Ying-Qian, Chen, Hai-Zhu, Zuo, Erwei

Source: Cell Discovery; 11/29/2022, Vol. 8 Issue 1, p1-17, 17p

Subject Terms: CALCIFICATION, MONONUCLEAR leukocytes, MITOCHONDRIAL DNA, VASCULAR endothelial cells, BLOOD-brain barrier, HOMEOSTASIS

Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis.

Authors: Lu, Ying-Qian, Chen, Jian-Min, Lin, Han, Feng, Shu-Yan, Che, Chun-Hui, Liu, Chang-Yun, Huang, Hua-Pin, Zou, Zhang-Yu

Source: Frontiers in Molecular Neuroscience; 2/24/2022, Vol. 15, p1-10, 10p

Subject Terms: AMYOTROPHIC lateral sclerosis, INTRONS, GENETIC variation, MISSENSE mutation, NUCLEOTIDE sequencing

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Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice.

Authors: Li, Jin-Jing^1,2, huiyang@ion.ac.cn, Lin, Xiang^1,2, Tang, Cheng³, Lu, Ying-Qian¹, Hu, Xinde³, Zuo, Erwei³, Li, He³, Ying, Wenqin³, Sun, Yidi⁴, Lai, Lu-Lu¹, Chen, Hai-Zhu¹, Guo, Xin-Xin¹, Zhang, Qi-Jie^1,2, Wu, Shuang¹, Zhou, Changyang³, Shen, Xiaowen³, Wang, Qifang³, Lin, Min-Ting^1,2, Ma, Li-Xiang⁵, Wang, Ning^1,2

Source: National Science Review; Jan2020, Vol. 7 Issue 1, p92-101, 10p

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Research progress of spinal muscular atrophy treatment in children. (English)

Authors: ZHAO Miao, LU Ying-qian, WANG Ning, CHEN Wan-jin

Source: Chinese Journal of Contemporary Neurology & Neurosurgery; Apr2018, Vol. 18 Issue 4, p284-289, 6p

Subject Terms: TREATMENT of spinal muscular atrophy, AGE factors in disease, NEUROLOGICAL disorders, DISEASE incidence, MUSCLE weakness, CHILDREN

Base editing-mediated splicing correction therapy for spinal muscular atrophy

Authors: Lin, Xiang, Chen, Haizhu, Lu, Ying-Qian, Hong, Shunyan, Hu, Xinde, Gao, Yanxia, Lai, Lu-Lu, Li, Jin-Jing, Wang, Zishuai, Ying, Wenqin, Ma, Lixiang, Wang, Ning, Zuo, Erwei, Yang, Hui, Chen, Wan-Jin

Source: Cell Research; June 2020, Vol. 30 Issue: 6 p548-550, 3p