희귀유전질환심포지엄조직위원회
Rare Genetic Disease Symposium Organizing Committee
PROFILE

고혁완 교수

Distinct Signaling Pathways Underlie Tissue-Specific Phenotypes in Carpenter Syndrome Models
We reveal that genes regulating identical signaling pathways can cause the same disease through completely different molecular mechanisms, establishing tissue-specific functional specialization as a key principle in genetic disease pathogenesis. The demonstration that MEGF8 prevents craniosynostosis through BMPR1A protein stabilization while RAB23 operates via FGF-ERK signaling provides new insights into Carpenter syndrome heterogeneity and opens opportunities for precision therapeutic approaches targeting pathway-specific mechanisms in rare genetic disorders.
연세대학교 생화학과
EDUCATION
1989.03 – 1996.02 B.S. in Biochemistry, Yonsei University, Seoul, Korea
1998.09 - 2004.10 Ph.D., Program in Neuroscience, Rutgers University/
University of Medicine and Dentistry of New Jersey
NJ, USA (Advisor: Dr. Isaac Edery)
RESEARCH AND PROFESSIONAL EXPERIENCES
2018.03 - Present Associate Professor
Department of Biochemistry Yonsei University Seoul, Korea
2012.03 – 2018.02 Assistant/Associate Professor
College of Pharmacy Dongguk University Goyang-si, Gyeonggi-do Korea
2010.03 – 2012.02 Assistant Professor
Age-Related and Brain Diseases Research Center Kyung Hee University, Seoul, Korea
2009.09 - 2010.02 Research Professor
Neurodegeneration Control Research Center Kyung Hee University, Seoul, Korea
2005.04 – 2009.08 Postdoctoral fellow
Department of Molecular biology, Princeton University, NJ, USA
PUBLICATIONS
1. Kim S., Han H.J., Roh H., Kang S., Mukherjee S., Kim J., Kim D., Ko H.W., Lim S.M., Im S.S., Chung J.Y. and Song J. (2025) Ebastine-mediated destabilization of E3 ligase MKRN1 protects against metabolic dysfunction-associated steatohepatitis. Cell Mol Life Sci 82:66 (IF: 8.0)
2.Je S.Y., and Ko H.W. (2024) Distinct roles of centriole distal appendage proteins in ciliary assembly and disassembly. Cell Comun Signal 22:607 (IF: 8.2)
3.Oh S.A., Jeon J., Je S.Y., Kim S., Jung J., and Ko H.W. (2024) TMEM132A regulates Wnt/β-catenin signaling through stabilizing LRP6 during mouse embryonic development. Cell Comun Signal 22:482 (IF: 8.2)
4.Jung J.H., Lee H., Jeon J., Lee Y.J., Nada H., Kim M., Lee H., Bhattarai D., Lee K. *, and Ko H.W. * (2024) A novel indole derivative, 2-{3-[1-(benzylsulfonyl)piperidin-4-yl]-2-methyl-1H-indol-1-yl}-1-(pyrrolidin-1-yl)ethenone, suppresses hedgehog signaling and drug-resistant tumor growth. Arch Pharm 4:e2400218 (*co-corresponding author) (IF: 4.3)
5.Juhng S., Song J., You J., Park J., Yang H., Jang M., Kang G., Shin J., Ko H.W., Jung H. ., Ko H.W. *, Jung H. * (2023) Fabrication of liraglutide-encapsulated triple layer hyaluronic acid microneedles (TLMs) for the treatment of obesity. Lab Chip 23:2378-2388 (*co-corresponding author) (IF: 7.52)