Molecular Biosciences


Shohab Youssefian, Ph.D., Professor

Many human diseases result from genetic and epigenetic changes which, together with environmental cues, often modify the functions of key regulatory proteins. To develop novel and efficient treatments for such diseases, it is essential to clarify these protein functions and their interactions. We are employing various molecular and cellular tools, including gene editing, human iPS cells, and knock-in/out and transgenic mice, to study the molecular and cellular functions of several disease-related genes. Our supportive, friendly and challenging research group provides an ideal (bilingual) learning environment for creative and motivated students.

Research and Education

Our laboratory is currently involved in four projects. Our main study focuses on RNF213, a protein implicated in various vascular disorders, including Moyamoya disease, pulmonary hypertension, stroke and coronary heart disease. To understand how RNF213 mutations effect such vascular changes, we are investigating processes that activate RNF213, its interacting partners and signaling pathways, and how mutations modify these functions. Our second project aims to characterize the functions of the voltage-gated sodium channel, Nav1.9, involved in inflammatory pain disorders, and how specific mutations lead to pain hypersensitivity or insensitivity. We are investigating changes in the channel activities, and using novel cell lines and mice models to evaluate natural and chemical drugs blocking pain perception. Our third study focuses on a specific p53 gain-of-function isoform with enhanced oncogenicity. A series of novel reporter cell lines are being used to screen therapeutic drugs that interfere with development of such p53-related cancers. Finally, the independent Life Science Informatics Research Unit studies the application of data processing and statistical methods to support and accelerate translational efforts in life science research. Main external collaborators include Prof. Akio Koizumi.

Laboratory members


Recent Publications

  1. Kobayashi H, Kabata R, Kinoshita H, Morimoto T, Ono K, Takeda M, Choi J, Okuda H, Liu W, Harada KH, Kimura T, Youssefian S, Koizumi A (2018): Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice. Pulm Circ. Jul-Sep;8(3):2045894018778155.
  2. Morimoto T, Enmi JI, Hattori Y, Iguchi S, Saito S, Harada KH, Okuda H, Mineharu Y, Takagi Y, Youssefian S, Iida H, Miyamoto S, Ihara M, Kobayashi H, Koizumi A (2018): Dysregulation of RNF213 promotes cerebral hypoperfusion. Sci Rep. Feb 26;8(1):3607.
  3. Choi J, Kobayashi H, Okuda H, Harada KH, Takeda M, Fujimoto H, Yamane S, Tanaka D, Youssefian S, Inagaki N, Koizumi A (2018): β-cell-specific overexpression of adiponectin receptor 1 does not improve diabetes mellitus in Akita mice. PLoS One. Jan 5;13(1):e0190863.
  4. Daniel Reker, Petra Schneider, Gisbert Schneider, J.B. Brown (2017) Active learning for computational chemogenomics. Future Medicinal Chemistry, 9(4):381-402
  5. Okuda H, Noguchi A, Kobayashi H, Kondo D, Harada KH, Youssefian S, Shioi H, Kabata R, Domon Y, Kubota K, Kitano Y, Takayama Y, Hitomi T, Ohno K, Saito Y, Asano T, Tominaga M, Takahashi T, Koizumi A (2016): Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families. PLoS One May 25;11(5)

Molecular Biosciences

Professor: Shohab Youssefian
Junior Associate Professor: J.B. Brown
Program-specific Lecturer: Tohru Tezuka

TEL: +81-75-753-4476
FAX: +81-75-753-9281
e-mail: youssefian.shohab.3x@kyoto-u.ac.jp