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

Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

Authors: He, Jin, Liu, Xiao‐Xuan, Ma, Ming‐Ming, Lin, Jing‐Jing, Fu, Jun, Chen, Yi‐Kun, Xu, Guo‐Rong, Xu, Liu‐Qing, Fu, Zhi‐Fei, Xu, Dan, Chen, Wen‐Feng, Cao, Chun‐Yan, Shi, Yan, Zeng, Yi‐Heng, Zhang, Jing, Chen, Xiao‐Chun, Zhang, Ru‐Xu, Wang, Ning, Kennerson, Marina, Fan, Dong‐Sheng, Chen, Wan‐Jin

Source: Annals of neurology. 93(2):244-256

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172985181.0x000001&indx=1&recIds=ETOCvdc_100172985181.0x000001

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy

Authors: Zeng, Yi‐Heng, Yang, Kang, Du, Gan‐Qin, Chen, Yi‐Kun, Cao, Chun‐Yan, Qiu, Yu‐Sen, He, Jin, Lv, Hai‐Dong, Qu, Qian‐Qian, Chen, Jian‐Nan, Xu, Guo‐Rong, Chen, Long, Zheng, Fu‐Ze, Zhao, Miao, Lin, Min‐Ting, Chen, Wan‐Jin, Hu, Jing, Wang, Zhi‐Qiang, Wang, Ning

Source: Annals of neurology. 92(3):512-526

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158028124.0x000001&indx=1&recIds=ETOCvdc_100158028124.0x000001

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.

Authors: Lin, Jingjing, Li, Yun‐Lu, Chen, Bo‐Li, Su, Hui‐Zhen, Zeng, Yi‐Heng, Zeng, Rui‐Huang, Zhang, Yu‐Duo, Chen, Ru‐Kai, Cai, Nai‐Qing, Chen, Yi‐Kun, Yuan, Ru‐Ying, Jiang, Jun‐Yi, Yao, Xiang‐Ping, Wang, Ning, Chen, Wan‐Jin, Yang, Kang

Source: Annals of Clinical & Translational Neurology; Nov2024, Vol. 11 Issue 11, p2998-3009, 12p

Subject Terms: GENETIC testing, HAPLOTYPES, AGE of onset, EAST Asians, ATAXIA

Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene

Authors: Li, Yun‐Lu, Lv, Wen‐Qi, Zeng, Yi‐Heng, Chen, Yi‐Kun, Wang, Xian‐Long, Yang, Kang, Ding, Yuan‐Liang, Chen, Ru‐Kai, Wang, Ning, Chen, Wan‐Jin

Source: Movement disorders. 37(3):641-643

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100159597113.0x000001&indx=1&recIds=ETOCvdc_100159597113.0x000001

Cerebellar Ataxia Secondary to Leukodystrophy with a Frameshift CST3 Variant.

Authors: Zeng, Yi‐Heng^1,2 (AUTHOR), Zuo, Dan‐Dan^1,2 (AUTHOR), Wang, Zhi‐Qiang^1,2 (AUTHOR) wzhq1992@fjmu.edu.cn, Zhu, Jiting^1,2 (AUTHOR) jitingzhu@fjmu.edu.cn

Source: Movement Disorders. Oct2024, Vol. 39 Issue 10, p1894-1896. 3p.

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

Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14ataxia

Authors: Zheng, Ze-Hong, Cao, Chun-Yan, Cheng, Bi, Yuan, Ru-Ying, Zeng, Yi-Heng, Guo, Zhang-Bao, Qiu, Yu-Sen, Lv, Wen-Qi, Liang, Hui, Li, Jin-Lan, Zhang, Wei-Xiong, Fang, Min-Kun, Sun, Yu-Hao, Lin, Wei, Hong, Jing-Mei, Gan, Shi-Rui, Wang, Ning, Chen, Wan-Jin, Du, Gan-Qin, Fang, Ling

Source: Journal of Human Genetics; September 2024, Vol. 69 Issue: 9 p433-440, 8p

Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.

Authors: Lin, Xiang, Jiang, Jun‐Yi, Hong, Dao‐jun, Lin, Kai‐Jun, Li, Jin‐Jing, Chen, Yi‐Jun, Qiu, Yu‐sen, Wang, Zishuai, Liao, Yi‐Chu, Yang, Kang, Shi, Yan, Wang, Meng‐wen, Hsu, Shao‐Lun, Hong, Shunyan, Zeng, Yi‐Heng, Chen, Xiao‐Chun, Wang, Ning, Lee, Yi‐Chung, Chen, Wan‐Jin

Source: Movement Disorders; Jan2024, Vol. 39 Issue 1, p152-163, 12p

Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications

Authors: Zeng, Yi-Heng, Zhao, Miao, Guo, Xin-Xin, Wang, Ning, Chen, Wan-Jin

Source: Neurology. 98(10):417-418

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100145371118.0x000001&indx=1&recIds=ETOCvdc_100145371118.0x000001

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

Knockdown of myorg leads to brain calcification in zebrafish.

Authors: Zhao, Miao, Lin, Xiao-Hong, Zeng, Yi-Heng, Su, Hui-Zhen, Wang, Chong, Yang, Kang, Chen, Yi-Kun, Lin, Bi-Wei, Yao, Xiang-Ping, Chen, Wan-Jin

Source: Molecular Brain; 7/23/2022, Vol. 15 Issue 1, p1-9, 9p

Subject Terms: CALCIFICATION, BRACHYDANIO, KNOCKOUT mice, GENE expression, RECESSIVE genes, LABORATORY mice, ANIMAL disease models

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Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.

Authors: Zeng, Yi-Heng, Lin, Bi-Wei, Su, Hui-Zhen, Guo, Xin-Xin, Li, Yun-Lu, Lai, Lu-Lu, Chen, Wan-Jin, Zhao, Miao, Yao, Xiang-Ping

Source: Frontiers in Genetics; 10/22/2021, Vol. 12, p1-8, 8p

Subject Terms: COMPUTED tomography, CALCIFICATION, MISSENSE mutation, SYMPTOMS, NEUROLOGICAL disorders, FAMILIAL spastic paraplegia, DYSPLASIA