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)

PROFESSIONAL EXPERIENCE

2018.03 - Present Associate Professor/Professor
Department of BiochemistryYonsei University
Seoul, Korea
2012.03 – 2018.02 Assistant/Associate Professor
College of PharmacyDongguk University
Goyang-si, Gyeonggi-do Korea
2010.03 – 2012.02 Assistant Professor
Age-Related and Brain Diseases Research CenterKyung Hee University, Seoul, Korea
2005.04 – 2009.08 Postdoctoral fellow
Department of Molecular biology,
Princeton University, NJ, USA

RESEARCH ACTIVITIES & OTHERS

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)
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)
You H., Juhng S., Song J., Park J., Jang M., Kang G., Yang H., Hye Su Min H.S., Shin J., Lee S., Ko H.W. *, Jung H. * (2023) Egg Microneedle for Transdermal Delivery of Active Liraglutide. Adv Healthc Mater 12:e2202473. (*co-corresponding author) (IF: 11.09)
Moon K.H., Ma J.H., Min H., Koo H., Kim H., Ko H.W.* and Bok J.* (2020) Dysregulation of sonic hedgehog signaling causes hearing loss in ciliopathy mouse models. eLife 9:e56551. (*co-corresponding author) (IF: 8.71)

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)