Tsai, Pei-Chien  - Assistant professor
Tsai, Pei-Chien Assistant professor 繁體中文 English
Full-time teacher

Neurogenetics; Molecular diagnostics; Inherited disease genomics


Graduate from Major in Degree Period
National Taiwan University Department of Agricultural Chemistry B.S.  
National Taiwan University Department of Agricultural Chemistry M.S.  
North Carolina State University Comparative Biomedical Sciences Ph.D.  

Experience / Honor


Organization Department Title Period
Taipei Veterans General Hospital  Department of Neurology  Postdoctoral researcher  





Travel Fellowship - International Conference on Pan-Asian Consortium for Treatment and Research in ALS






103年度科技部 - 博士後研究人員學術著作獎


Honor as a presenter of CBS program at the 4th Annual NC State Graduate Student Research Symposium in recognition of outstanding research


Our laboratory mainly conducts genetic research on hereditary neurological diseases, which can be divided into several processes and aspects:
(1) Use gene sequencing technology and bioinformatics to find the disease-causing gene of the patient and help the patient to diagnose at the genetic level
(2) Establish disease cell models, study the impact of disease-causing gene mutations on protein function and cell physiology, and study possible molecular pathogenic mechanisms
(3) Analyze the correlation between the genotype, phenotype and the function of the mutant gene in genetic neurological diseases
(4) Use gene editing technology, animal models and other methodologies to further verify the previous discoveries of pathogenic mechanisms or possible treatments at the cellular level, and lay the foundation for the development of corresponding and personalized precision medicine treatment strategies in the future.

The current research projects on neurogenetic diseases in the laboratory include:
Hereditary motor sensory neuropathy (HMSN/CMT), ALS, hereditary spastic paralysis (HSP), hereditary stroke/hereditary cerebral small vessel disease (CADASIL and CARASIL), and repeat expansion diseases and other diseases.

Journal Article

S.Y. Fang, P. C. Tsai, K. Y. Jih, F. C. Hsu, S. J. Fu, Y. C. Liao, C. C. Yang, Y. C. Lee. TBK1 p.Y153Qfs*9 variant may associate with young onset, rapidly progressive ALS through a haploinsufficiency mechanism. J Chin Med Assoc. (Accepted)
Yu-Kang Chang, Yi-Jyum Lin, Ching-Yuan Cheng, Pei-Chien Tsai, Chi-Young Wang, Brent L. Nielsen, Hung-Jen Liu. 2014/2. Nucleocytoplasmic shuttling of BEFV M protein-modulated by lamin A/C and chromosome maintenance region 1 through a transcription-, carrier and energy-dependent pathway.Veterinary Microbiology. 10:291:110026
Chao-Yu Hsu,Yun Jang,Wei-Ru Huang,Chi-Young Wang,Hsiao-Wei Wen, Pei-Chien Tsai,Cheng-YaoYang, Muhammad Munir, Hung-Jen Liu. (2023). Development of polycistronic vaculovirus surface display vectors to simultaneously express viral proteins of porcine reproductive and respiratory syndrome and analysis of their immunogenicity in swine. Vaccines,11(11):1666. (SCI)
Shih-Yu Fang, Ying-Tsen Chou, Kuo-Chou Hsu, Shao-Lun Hsu, Kai-Wei Yu, Yu-Shuen Tsai, Yi-Chu Liao, Pei-Chien Tsai,Yi-Chung Lee 2022/12 Clinical and genetic characterization of NIPA1 mutations in Taiwanese cohort with hereditary spastic paraplegia,Annals of Clinical and Translational Neurology. vol.accepted. (SCI)
Y-H Liu, Y-T Chou, F-P Chang, W-J Lee, Y-C Guo, C-T Chou, H-C Huang, T Mizuguchi, C-C Chou, H-Y Yu, K-W Yu, H-M Wu, P-C Tsai, N Matsumoto, Y-C Lee, Y-C Liao 2022/04 Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy,Brain. vol.accepted. (SCI)
En-Ting Lin, Yi-Chieh Lee, Hui-Min David Wang, Chen-Yaw Chiu, Yu-Kaung 2022/03 Efficient fucoidan extraction and purification from Sargassum cristaefolium and preclinical dermal biological activity assessments of the purified fucoidans.,Journal of the Taiwan Institute of Chemical Engineers. vol.accepted. (SCI)
Tsai, Pei-chien; Fuh, Jong-Ling; Yang, Chih-Chao ; Chang, Anna; Lien, Li-Ming; Wang, Pei-Ning; Lai, Kuan-Lin; Tsai, Yu-Shuen ; Lee, Yi-chung; Liao, Yi-chu 2021/09 Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations,Annals of Clinical and Translational Neurology. vol.accepted. (SCI)
Pei-Chien Tsai, Kangyang Jih, Ting-Yi Shen, Yi-Hong Liu, Kon-Ping KP Lin, Yi-Chu Liao, and Yi-Chung Lee 2021/08 Genetic and functional analysis of GLT8D1 in Taiwanese patients with amyotrophic lateral sclerosis,Neurology: Genetics. vol.Accepted. (SCI)
Kang-Yang Jih, Ying-Tsen Chou, Pei-Chien Tsai, Yi-Chu Liao, Yi-Chung Lee 2021/07 Analysis of NOTCH2NLC GGC repeat expansion in Taiwanese patients with amyotrophic lateral sclerosis,Neurobiology of Aging. vol.Accepted. (SCI)
Kang-Yang Jih, Pei-Chien Tsai, Yu-Shuen Tsai, Yi-Chu Liao, and Yi-Chung Le 2020/07 Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation,Neurology: Genetics. vol.accepted. (SCI)
Yu-Shuen Tsai, Kon-Ping Lin, Kang-Yang Jih, Pei-Chien Tsai, Yi-Chu Liao, Yi-Chung Lee 2020/05 Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant,Annals of Clinical and Translational Neurology. vol.7, no.6, pp.965-971. (SCI)
Kang-Yang Jih, Kon-Ping Lin, Pei-Chien Tsai, Bing-Wen Soong, Yi-Chu Liao,Yi-Chung Lee 2020 Investigating TBP CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS,Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. vol.accepted. (SCI)
Kuan-Lin Lai,Yi-Chu Liao, Pei-Chien Tsai, Cheng-Tsung Hsiao,Bing-Wen Soong, Yi-Chung Lee 2019/09 Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia ,Parkinsonism & Related Disorders. vol.66, pp.220-223. (SCI)
Pei-Chien Tsai, Yi-Chu Liao, Po-Lin Chen, Yuh-Cherng Guo, Ying-Hao Chen, Kang-Yang Jih, Kon-Ping Lin, Bing-Wen Soong, Ching-Paio Tsai, Yi-Chung Lee 2018/02 Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.,Neurobiology of Aging. vol.62, no.243, pp.e1-243.e6. (SCI)
Pei-Chien Tsai, Yi-Chu Liao, Kang-Yang Jih, Bing-Wen Soong, Kon-Ping Lin, Yi-Chung Lee 2018 Genetic analysis of ANXA11 variants in a Han Chinese cohort with amyotrophic lateral sclerosis in Taiwan. ,Neurobiology of Aging, . vol.72, no.188, pp.e1-188.e2. . (SCI)
Yi-Chu Liao, Pei-Chien Tsai, Thy-Sheng Lin, Cheng-Tsung Hsiao, Nai-Chen Chao, Kon-Ping Lin, Yi-Chung Lee 2017/11 Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy,Scientific Reports. vol.10, no.7(1), pp.15363. (SCI)
Pei-Chien Tsai, Yu-Shuen Tsai, Bing-Wen Soong, Yen-Hua Huang, Hung-Ta Wu, Ying-Hao Chen, Kon-Ping Lin, Yi-Chu Liao, Yi-Chung Lee 2017/08 A novel DNAJB6 mutation causes dominantly-inherited distal-onset myopathy and compromises DNAJB6 function. ,Clinical Genetics. vol.92, no.2, pp.150-157. (SCI)
Tsai, Pei-Chien; Soong, Bing-wen; Mademan, Ines; Huang, Yen-Hua; Liu, Chia-Rung; Hsiao, Cheng-Tsung; Wu, Hung-Ta; Liu, Tze-Tze; Liu, Yo-Tsen; Tseng, Yen-Ting; Lin, Kon-ping; Yang, Ueng-Cheng; Chung, K 2017/05 A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. ,Brain. vol.140, no.5, pp.1252-1266. . (SCI)
Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong 2017/05 Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.,PLOS ONE. vol.12, no.5, pp.e0177296. (SCI)
P.C. Tsai, D.M.Yang, Y.C. Liao, T.Y. Chiu, H.C. Kuo, Yu-Ping Su, Y. C. Guo, B.W. Soong, K.P. Lin, Y.T. Liu, Y.C. Lee 2016/11 Clinical and Biophysical Characterization of Nineteen GJB1 Mutations.,Annals of Clinical and Translational Neurology. vol.3, no.11, pp.854-865. (SCI)
Tsai Pei-Chien, Yi-Chien Liu, Kon-Ping Lin, Yo-Tsen Liu, Yi-Chu Liao, Cheng-Tsung Hsiao, Bing-Wen Soong, Ping-Keung Yip, Yi-Chung Lee 2016/04 Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis,Neurobiology of Aging. vol.40, no.191, pp.e11-6. (SCI)
Yi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong 2016/04 Spinocerebellar ataxia type 36 in the Han Chinese. ,Neurology: Genetics. vol.12, no.2(3), pp.e68.
C-T Hsiao, P-C Tsai, C-C Lin, Y-T Liu, Y-H Huang, Y-C Liao, H-W Huang, K-P Lin, B-W Soong, Y-C Lee 2016/01 Clinical and molecular characterization of BSCL2 mutations in a Taiwanese cohort with hereditary neuropathy.,PLOS ONE. vol.11, no.1, pp.e0147677. . (SCI)
Y-C Liao, Y-T Liu, P-C Tsai, C-C Chang, Y-H Huang,B-W Soong, Y-C Lee 2015/08 Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. ,PLOS ONE. vol.10, no.8, pp.e0133423. (SCI)
Kon-Ping Lin, Pei-Chien Tsai, Yi-Chu Liao, Wei-Ting Chen, Ching-Piao Tsai, Bing-Wen Soong, Yi-Chung Lee 2015/05 Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis.,Neurobiology of Aging. vol.36, no.5, pp.2005.e1–2005.e4. (SCI)
Cheng-Tsung Hsiao, Pei-Chien Tsai, Yi-Chu Liao, Yi-Chung Lee, Bing-Wen 2014/12 C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome,Journal of the Neurological Sciences. vol.347, no.1-2, pp.322-324. (SCI)
Soong BW, Lin KP, Guo YC, Lin CC, Tsai PC, Liao YC, Lu YC, Wang SJ, Tsai CP, Lee YC 2014/10 Extensive molecular genetic survey of Taiwanese,Neurobiology of Aging. vol.35, no.10, pp.2423.e1-6. (SCI)
Yuh-Cherng Guo, Juei-Jueng Lin, Yi-Chu Liao, Pei-Chien Tsai, Yi-Chung Lee, Bing-wen Soong 2014/10 Spinocerebellar ataxia 35: novel mutations in,Neurology. vol.83, no.17, pp.1554-61. (SCI)
Pei-Chien Tsai, Yen-Hua Huang, Yuh-Cherng Guo, Hung-Ta Wu, Kon-Ping Lin, Yu-Shuen Tsai, Yi-Chu Liao, Yo-Tsen Liu, Tze-Tze Liu, Lung-Sen Kao, Shaw-Fang Yet, Ming-Ji Fann, Bing-Wen Soong, Yi-Chung Lee 2014/09 A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. ,Neurology. vol.83, no.10, pp.903-12.. (SCI)
Yi-Jr Chena*, Pei-Chien Tsai*(co-first), Chun-Hua Hsua, Chia-Yin Lee 2014/03 Critical residues of class II PHA synthase for expanding the substrate specificity and enhancing the biosynthesis of polyhydroxyalkanoate,Enzyme and Microbial Technology. vol.5, no.56, pp.60-6. (SCI)
Tsai PC, Chen CH, Liu AB, Chen YC, Soong BW, Lin KP, Yet SF, Lee YC 2013/09 Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy,Journal of the Neurological Sciences. vol.332, no.1-2, pp.51-5. (SCI)
Soong BW, Liao YC, Tu PH, Tsai PC, Lee IH, Chung CP, Lee YC 2013/06 A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.,Journal of the Chinese Medical Association. vol.76, no.6, pp.319-24. (SCI)
Soong BW, Huang YH, Tsai PC, Huang CC, Pan HC, Lu YC, Chien HJ, Liu TT,Chang MH, Lin KP, Tu PH, Kao LS, Lee YC 2013/03 Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.,American Journal of Human Genetics. vol.7, no.92(3), pp.422-30. (SCI)
Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT,Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stev 2012/12 Mutations in KCND3 cause spinocerebellar ataxia type 22,Annals of Neurology. vol.72, no.6, pp.859-69. . (SCI)
Tsai CP, Soong BW, Tu PH, Lin KP, Fuh JL, Tsai PC, Lu YC, Lee IH, Lee YC 2012/09 A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. ,Neurobiology of Aging. vol.33, no.9, pp.:2232.e11-2232.e18. . (SCI)
Tsai, P. C. and Breen, M 2012/09 aCGH-guided identification of suitable reference genes for real-time quantitative PCR analysis in canine tumors.,American Journal of Veterinary Research. vol.73, no.9, pp. 1335-1343. . (SCI)
Thomas, R, Wang, H.J., Tsai, P.C., Langford, C.F., Fosmire,S.P., Jubala, C.M., Getzy, D.M., Cutter, G.R., Modiano, J.F., Breen, M. 2009/04 Influence of genetic background on tumor karyotypes: evidence for breed-associated cytogenetic aberrations in canine appendicular osteosarcoma.,Chromosome Research . vol.17, pp.365-377. (SCI)
Tzu-yin Lin, Rachael Thomas, Pei-Chien Tsai, Matthew Breen, Cheryl A London 2009/01 Generation and characterization of a novel canine malignant mast cell line, CL1. ,Veterinary Immunology and Immunopathology. vol.127, pp.114-124. . (SCI)
Thomas, R., Duke, S. Bloom, S., Breen, T, Feiste, E., Young, A., Seiser, E., Tsai, P., Ellis, P., Langford, C, Karlsson, E., Mauceli, E., Lindblad-Toh, K., Breen. M. 2007/08 A cytogenetically characterized, genome anchored 10Mb BAC array for the domestic dog.,Journal of Heredity . vol.98, no.5, pp.474-484.. (SCI)

Research Project

遠端型遺傳性運動神經病變患者tryptophanyl-tRNA synthetase基因突變之基因功能性研究
遠端型遺傳性運動神經病變患者tryptophanyl-tRNA synthetase基因突變之基因功能性研究
遠端型遺傳性運動神經病變患者tryptophanyl-tRNA synthetase基因突變之基因功能性研究