1. Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550. Issue 1 (31st July 2022) Authors: Lee, Yejin; Kim, Hyeongju; Barker, Douglas; Vijayvargia, Ravi; Atwal, Ranjit Singh; Specht, Harrison; Keshishian, Hasmik; Carr, Steven A; Lee, Ramee; Kwak, Seung; Hyun, Kyung-gi; Loupe, Jacob; MacDonald, Marcy E; Song, Ji-Joon; Seong, Ihn Sik Journal: Human molecular genetics Issue: Volume 32:Issue 1(2023) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. (7th January 2015) Authors: Quintero-Rivera, Fabiola; Xi, Qiongchao J.; Keppler-Noreuil, Kim M.; Lee, Ji Hyun; Higgins, Anne W.; Anchan, Raymond M.; Roberts, Amy E.; Seong, Ihn Sik; Fan, Xueping; Lage, Kasper; Lu, Lily Y.; Tao, Joanna; Hu, Xuchen; Berezney, Ronald; Gelb, Bruce D.; Kamp, Anna; Moskowitz, Ivan P.; Lacro, Rona... Journal: Human molecular genetics Issue: Volume 24:Number 8(2015:Apr. 15) Page Start: 2375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Issue 3 (11th January 2021) Authors: Jung, Roy; Lee, Yejin; Barker, Douglas; Correia, Kevin; Shin, Baehyun; Loupe, Jacob; Collins, Ryan L; Lucente, Diane; Ruliera, Jayla; Gillis, Tammy; Mysore, Jayalakshmi S; Rodan, Lance; Picker, Jonathan; Lee, Jong-Min; Howland, David; Lee, Ramee; Kwak, Seung; MacDonald, Marcy E; Gusella, James F;... Journal: Human molecular genetics Issue: Volume 30:Issue 3/4(2021) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels. (6th February 2017) Authors: Shin, Aram; Shin, Baehyun; Shin, Jun Wan; Kim, Kyung-Hee; Atwal, Ranjit S.; Hope, Jennifer M.; Gillis, Tammy; Leszyk, John D.; Shaffer, Scott A.; Lee, Ramee; Kwak, Seung; MacDonald, Marcy E.; Gusella, James F.; Seong, Ihn Sik; Lee, Jong-Min Journal: Human molecular genetics Issue: Volume 26:Number 7(2017:Apr. 01) Page Start: 1258 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗