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PROFILE

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신진홍 교수

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Therapeutic development of GNE myopathy

Biallelic defects in GNE gene results in the progressive myopathy of adolescence onset. Supplementation of sialic acid metabolites as well as replacement of GNE gene may ameliorate the disease process.

부산대학교 의과대학

EDUCATION

1992-1998 College of medicine, Pusan National University
1999-2003 Neurology residency, Pusan National University Hospital
1999-2009 Graduate program, Pusan National University

PROFESSIONAL EXPERIENCE

2003-2006 Medical officer of Neurology and Diving medicine, Naval Maritime Hospital
2006-2009 Temporary researcher, Dept of Molecular therapy, Nat’l center of Neurology and Psychiatry, Japan 
2009-2012 Research scientist, Dept of Molecular microbiology and Immunology, University of Missouri, USA
2012-      Faculty in Neurology, Pusan National University Yangsan Hospital

PUBLICATIONS

1.Park YE, Choi J, Kim L, Park E, Go H, Shin J. A pilot trial for efficacy confirmation of 6'-sialyllactose supplementation in GNE myopathy: Randomized, placebo-controlled trial. Mol Genet Metab. 2025 Jan;144(1):108614. doi: 10.1016/j.ymgme.2024. PMID: 39644669.
2.Seo K, Kim EK, Choi J, Kim DS, Shin JH. Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation. Mol Ther Methods Clin Dev. 2021. PMID: 34141825.
3.Ishii A, Okada H, Hayashita-Kinoh H, Shin JH, Tamaoka A, Okada T, Takeda S. rAAV8 and rAAV9-Mediated Long-Term Muscle Transduction with Tacrolimus (FK506) in Non-Human Primates. Mol Ther Methods Clin Dev. 2020. PMID: 32577431.
4.Park YE, Kim DS, Choi YC, Shin JH. Progression of GNE Myopathy Based on the Patient-Reported Outcome. J Clin Neurol. 2019. PMID: 31286697.
5.Shin JH, Pan X, Hakim CH, Yang HT, Yue Y, Zhang K, Terjung RL, Duan D. Microdystrophin ameliorates muscular dystrophy in the canine model of duchenne muscular dystrophy. Mol Ther. 2013. PMID: 23319056.

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