The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion

por Jinsei Jung, Jiyoon Kim, Shin Hye Roh, Ikhyun Jun, Robert D. Sampson, Heon Yung Gee, Jae Young Choi, Min Goo Lee
Publicado 2016

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

por Ikhyun Jun, Joon Suk Lee, Ji Hwan Lee, Christopher Seungkyu Lee, Seung-il Choi, Heon Yung Gee, Min Goo Lee, Eung Kweon Kim
Publicado 2017

Dysfunctional cerebellar Purkinje cells contribute to autism-like behaviour in Shank2-deficient mice

por Saša Peter, Michiel M. ten Brinke, Jeffrey Stedehouder, Claudia M. Reinelt, Bin Wu, Haibo Zhou, Kuikui Zhou, Henk-Jan Boele, Steven A. Kushner, Min Goo Lee, Michael J. Schmeisser, Tobias M. Boeckers, Martijn Schonewille, Freek E. Hoebeek, Chris I. De Zeeuw
Publicado 2016

Grasp55 −/− mice display impaired fat absorption and resistance to high-fat diet-induced obesity

por Jiyoon Kim, Hyeyon Kim, Shin Hye Noh, Dong Geon Jang, Shi-Young Park, Dongkook Min, Hyunki Kim, Hee-Seok Kweon, Hoguen Kim, Sowon Aum, Sookyung Seo, Cheol Soo Choi, Hail Kim, Jae Woo Kim, Seok Jun Moon, Heon Yung Gee, Min Goo Lee
Publicado 2020

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

por Mengnan Li, Shin-ya Nishio, Chie Naruse, Meghan Riddell, Sabrina Sapski, Tatsuya Katsuno, Takao Hikita, Fatemeh Mizapourshafiyi, Fiona M. Smith, Leanne T. Cooper, Min Goo Lee, Masahide Asano, Thomas Boettger, Marcus Krueger, Astrid Wietelmann, Johannes Graumann, Bryan W. Day, Andrew W. Boyd, Stefan Offermanns, Shin-ichiro Kitajiri, Shin-ichi Usami, Masanori Nakayama
Publicado 2020