Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
未折叠蛋白反应调节因子 ATF6 的突变会导致视锥细胞功能障碍性疾病——全色盲。
期刊:Nature Genetics
影响因子:31.7
doi:10.1038/ng.3319
Susanne Kohl ,Ditta Zobor ,Wei-Chieh Chiang ,Nicole Weisschuh ,Jennifer Staller ,Irene Gonzalez Menendez ,Stanley Chang ,Susanne C Beck ,Marina Garcia Garrido ,Vithiyanjali Sothilingam ,Mathias W Seeliger ,Franco Stanzial ,Francesco Benedicenti ,Francesca Inzana ,Elise Héon ,Ajoy Vincent ,Jill Beis ,Tim M Strom ,Günther Rudolph ,Susanne Roosing ,Anneke I den Hollander ,Frans P M Cremers ,Irma Lopez ,Huanan Ren ,Anthony T Moore ,Andrew R Webster ,Michel Michaelides ,Robert K Koenekoop ,Eberhart Zrenner ,Randal J Kaufman ,Stephen H Tsang ,Bernd Wissinger ,Jonathan H Lin