Cell Communication
in Aging & Disease Lab.
“The joy of discovery is certainly the liveliest that the mind of man can ever feel”
- Claude Bernard -
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Jaegal Shim#, Jung-Hwa Choi#, Moon-Hak Park, Hyena Kim, Jong Hwan Kim, Seon-Young Kim, Dongwan Hong, Sunshin Kim, Ji Eun Lee, CheolHee Kim*, Jeong-Soo Lee*, and Young-Ki Bae*. Oncotarget 8:55280-55297. Development of zebrafish medulloblastoma-like PNET model by TALEN-mediated somatic gene inactivation.
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Eunhye Lee#, Taeyun A. Lee#, Ji Hyun Kim#, Areum Park, Eun A. Ra, Sujin Kang, Hyun Jin Choi, Junhee L. Choi, Hyunbin D. Huh, Ji Eun Lee*, Sungwook Lee*, and Boyoun Park*. Nucleic Acids Research 45: 3280-3296. CNBP acts as a key transcriptional regulator of sustained expression of Interleukin-6.
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Ji Hyun Kim and Ji Eun Lee. Animal Cells and Systems 21: 17-22. Mitotic control by mRNA splicing regulators ensures primary cilia formation.
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Jeong Hwi Lee, Young Cheul Chung, Eugene Bok, Hankyu Lee, Sue Hee Huh, Ji Eun Lee, Byung Kwan Jin, Hyuk Wan Ko. Biochemical and Biophysical Research Communications (BBRC) 482: 980-986. Injury-stimulated Sonic hedgehog expression in microglia contributes to neuroinflammatory response in the MPTP model of Parkinson’s disease.
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Eun Jang Yoon, Yong Taek Jeong, Ji Eun Lee, Seok Jun Moon, Chul Hoon Kim. Biochemical and Biophysical Research Communications (BBRC) 482: 814-820. Tubby domain superfamily protein is required for the formation of the 7S SNARE complex in Drosophila.
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Hyunbin D. Huh, Eun A. Ra, Taeyun A. Lee, Sujin Kang, Areum Park, Eunhye Lee, Junhee L. Choi, Eunji Jang, Ji Eun Lee, Sungwook Lee and Boyoun Park. Scientific Reports 6: 38849. STRAP acts as a scaffolding protein in controlling the TLR2/4 signaling pathway.
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Rana Lee, Jane Melissa Lim, Kyung-Hye Roh, Ji Hyun Kim, Seongman Kang, Ji Eun Lee* and Eui-Ju Choi*. Animal Cells and Systems 20: 310-316. S-nitrosylated GAPDH mediates neuronal apoptosis induced by amyotrophic lateral sclerosis-associated mutant SOD1G93A.
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Hongseok Shim#, Ji Hyun Kim#, Chan Yeoung Kim#, Sohyun Hwang, Hyojin Kim, Sunmo Yang, Ji Eun Lee* and Insuk Lee*. Nucleic Acids Research 44: 9611-9623. Functiondriven discovery of disease genes in zebrafish using an integrated genomics big data resource.
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Yeojin Lee#, In Young Lee#, Hee Yun, Woo Lee, Seongman Kang, SsangGoo Cho, Ji Eun Lee* and Eui-Ju Choi*. Biochemical and Biophysical Research Communications (BBRC) 478: 784-790. BAT3 negatively regulates lipopolysaccharide-induced NF-kB signaling through TRAF6.
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Soo Jin Kwon#, Soo Mi Ki#, Sang Eon Park, Brian Hyung, Min-Jung Kim, Sangmi Shim, Jong Hwa Kim, Duk L Na, Byongok Choi, Ji Eun Lee* and Jong Wook Chang*. Molecular Therapy 24: 1550-1560. Anti-Apoptotic Effects of Human Wharton’s jelly-derived Mesenchymal Stem Cells on Skeletal Muscle Cells Mediated via Secretion of XCL1.
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Eun A. Ra, Taeyun A. Lee, Seung Won Kim, Areum Park, Hyun jin Choi, Insook Jang, Sujin Kang, Jae Hee Cheon, Jin won Cho, Ji Eun Lee, Sungwook Lee* and Boyoun Park*. Nature Communications 7: 11726. TRIM31 promotes Atg5/Atg7- independent autophagy in intestinal cells.
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Ji Hyun Kim#, Soo Mi Ki#, Je-Gun Joung, Eric Scott, Susanne HeynenGenel, Pedro Aza-Blanc, Chang Hyuk Kwon, Joon Kim, Joseph G. Gleeson* and Ji Eun Lee*. BBA-Molecular Cell Research 1863: 1307-1318. Genome-wide screen identifies novel machineries required for both ciliogeneiss and cell cycle arrest upon serum starvation.
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Hong YB, Kang J, Kim JH, Lee J, Kwak G, Hyun YS, Nam SH, Hong HD, Choi YR, Jung SC, Koo H, Lee JE*, Choi BO*, and Chung KW*. Human Mutation 37: 473-480. DGAT2 mutation in a family with autosomal dominant early-onset axonal Charcot-Marie-Tooth disease.
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Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE*, Chung KW*, and Choi BO*. Annals of Neurology 79: 231-243. ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
2014
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Jae Keun Lee, Jin Hee Shin, Ji Eun Lee*, and Eui-Ju Choi*. BBA Molecular Basis of Disease 1852: 2517-2524. Role of autophagy in the pathogenesis of amyotrophic lateral sclerosis.
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Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Lee JE, et al. Elife 30; 4. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
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Thomas Sophie, Cantagrel Vincent, Mariani Laura, Serre Valerie, Ji Eun Lee, Elkhartoufi Nadia, Lonlay Pascale, Desguerre Isabelle, Munnich Arnold, Boddaert Nathalie, Lyonnet Stanislas, Vekemans Michel, Lisgo Steven, Caspary Tamara, Gleeson Joseph, and Attie-Bitach Tania. European J Human Genetics 23: 621-627. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
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Ashok Patowary#, So Yeon Won#, Shin Ji Oh, Ryan R Nesbitt, Marilyn Archer, Debbie Nickerson, Wendy H. Raskind, Raphael Bernier, Ji Eun Lee*, and Zoran Brkanac*. Translational Psychiatry 9:4. Family-based exome sequencing and casecontrol analysis implicate CEP41 as an ASD gene.
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So Yeon Won, Byung-Ok, Choi, Ki Wha, Chung, and Ji Eun Lee. Gene & Genomics 41(9): 993–1000. Zebrafish is a central model to dissect the peripheral neuropathy.
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Ah Jin Lee, Soo Hyun Nam, Jin-Mo Park, Sumaira Kanwal, Yu Jin Choi, Hyun Jung Lee, Kyung Suk Lee, Ji Eun Lee, Jin-Sung Park, Byung-Ok Choi & Ki Wha Chung. J Hum Genet 64(9): 961-965. Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients.
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Jung Eun Shim, Ji Hyun Kim, Junha Shin, Ji Eun Lee, and Insuk Lee. PLoS Comput Biol 15(5):e1007052. Pathway-specific protein domains are predictive for human diseases.
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So Yeon Won#, Soojin Kwon#, Hui Su Jeong, Ki Wha Chung, Byung-Ok Choi, Jong Wook Chang*, Ji Eun Lee*. Stem Cells 38(12):1578-1593. Fibulin 5, a human Wharton's jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis.
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Yong Joon Kim#, Eunji Jung#, Eunbie Shin, Sin-Hyoung Hong, Hui Su Jeong, Gayeong Hur, Hye Yun Jeong, Seung-Hyo Lee, Ji Eun Lee*, Gun Hwa Kim*, and Joon Kim*. Proc. Natl. Acad. Sci. USA 117(33):19994-20003. Genome-wide RNA interference screening reveals a COPI-MAP2K3 pathway required for YAP regulation.
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Joon-Tae Kim#, So Yeon Won#, KyungWook Kang, Sang-Hoon Kim, Man-Seok Park, Kang-Ho Choi, Tai-Seung Nam, Simone W. Denis, Sacha Ferdinandusse, Ji Eun Lee*, Seok-Yong Choi,* Myeong-Kyu Kim*. Translational Stroke Research 11(5):1041-1051. ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery.
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Soo Mi Ki#, Ji Hyun Kim#, So Yeon Won#, Shin Ji Oh, In Young Lee, Young-Ki Bae, Ki Wha Chung, Byung-Ok Choi, Boyoun Park, Eui-Ju Choi, Ji Eun Lee. EMBO Reports 21(2):e48290. CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation.
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Eunji Jung, Tae‐Ik Choi, Ji Eun Lee, Cheol‐Hee Kim, Joon Kim. FASEB Journal 34(1):1331-1344. ESCRT subunit CHMP4B localizes to primary cilia and is required for the structural integrity of the ciliary membrane.
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Soo Mi Ki#, Hui Su Jeong#, Ji Eun Lee. Frontiers in Neuroscience 15:736888. Primary Cilia in Glial Cells: An Oasis in the Journey to Overcoming Neurodegenerative Diseases.
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Hye Jin Kim, Soo Hyun Nam, Hye Mi Kwon, Si On Lim, Jae Hong Park, Hyun Su Kim, Sang Beom Kim, Kyung Suk Lee, Ji Eun Lee, Byung-Ok Choi, Ki Wha Chung. Molecular Genetics & Genomic Medicine 9(6):e1678. Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.
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Hui Su Jeong, Hye Jin Kim, Deok-Ho Kim, Ki Wha Chung, Byung-Ok Choi*, and Ji Eun Lee*. Molecules & Cells 45(4):231-242. Therapeutic potential of CKD-504, a novel selective histone deacetylase 6 inhibitor, in a zebrafish model of neuromuscular junction disorders.
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Taeyun A Lee, Heonjong Han, Ahsan Polash, Seok Keun Cho, Ji Won Lee, Eun A Ra, Eunhye Lee, Areum Park, Sujin Kang, Junhee L Choi, Ji Hyun Kim, Ji Eun Lee, Kyung-Won Min, Seong Wook Yang, Markus Hafner, Insuk Lee, Je-Hyun Yoon, Sungwook Lee, Boyoun Park. Nat Communications 13(1): 5203. The nucleolus is the site for inflammatory RNA decay during infection.
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Wonseok Son#, Hui Su Jeong#, Da Eun Nam, Ah Jin Lee, Soo Hyun Nam, Ji Eun Lee*, Byung Ok Choi*, and Ki Wha Chung*. Experimental Neurobiology 32(6): 410-422. Peripheral Neuropathy and Decreased Locomotion of a RAB40B Mutation in Human and Model Animals.
2015
2016
2017
2018
2019
2020
2021
2022
2023
2024
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Yoo-Jin Ha, Ashna Nisal, Issac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn Howarth, Sarah Schroeder, Keng loi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jian, Arzoo Patel, Krisha Bagga, Niyati Banka, Liana Friedman, Francisco A. Blanco, Seyoung Yu, Soeun Rhee, Hui Su Jeong.....Ji Eun Lee....Joseph G. Gleeson. Nature. 26(3): 1-8. The contribution of de novo coding mutations to meningomyelocele
2025
Before 2014 (Selected)
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Ji Eun Lee, Jennifer L. Silhavy, Maha Zaki, Sarah E. Marsh, Stephanie L. Bielas, Jana Schroth, Jesus Olvera, et al. Nature Genetics 44: 193-199. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
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Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee, Lihahd Al-Gazali, et al. Science 335: 966-969. Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus.
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Enza Maria Valente#, Clare V Logan#, Soumaya Mougou-Zerelli#, Jeong Ho Lee#, Jennifer L Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adam, Katarzyna Szymanska, Annalisa Mazzotta, Ji Eun Lee et al. Nature Genetics 42: 619-625. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
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Joon Kim, Ji Eun Lee, Susanne Heynen-Genel, Eigo Suyama, Keiichiro Ono, KiYoung Lee, Trey Ideker, Pedro Aza-Blanc and Joseph G. Gleeson. Nature 464: 1048-1051. Functional genomic screen for modulators of ciliogenesis and cilium length.