Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10.

Autor: Maeder ML; Editas Medicine, Cambridge, MA, USA. morganLmaeder@gmail.com., Stefanidakis M; Editas Medicine, Cambridge, MA, USA., Wilson CJ; Editas Medicine, Cambridge, MA, USA., Baral R; Editas Medicine, Cambridge, MA, USA., Barrera LA; Editas Medicine, Cambridge, MA, USA., Bounoutas GS; Editas Medicine, Cambridge, MA, USA., Bumcrot D; Editas Medicine, Cambridge, MA, USA., Chao H; Editas Medicine, Cambridge, MA, USA., Ciulla DM; Editas Medicine, Cambridge, MA, USA., DaSilva JA; Editas Medicine, Cambridge, MA, USA., Dass A; Editas Medicine, Cambridge, MA, USA., Dhanapal V; Editas Medicine, Cambridge, MA, USA., Fennell TJ; Fulcrum Genomics, Somerville, MA, USA., Friedland AE; Editas Medicine, Cambridge, MA, USA., Giannoukos G; Editas Medicine, Cambridge, MA, USA., Gloskowski SW; Editas Medicine, Cambridge, MA, USA., Glucksmann A; Editas Medicine, Cambridge, MA, USA., Gotta GM; Editas Medicine, Cambridge, MA, USA., Jayaram H; Editas Medicine, Cambridge, MA, USA., Haskett SJ; Editas Medicine, Cambridge, MA, USA., Hopkins B; Editas Medicine, Cambridge, MA, USA., Horng JE; Editas Medicine, Cambridge, MA, USA., Joshi S; Editas Medicine, Cambridge, MA, USA., Marco E; Editas Medicine, Cambridge, MA, USA., Mepani R; Editas Medicine, Cambridge, MA, USA., Reyon D; Editas Medicine, Cambridge, MA, USA., Ta T; Editas Medicine, Cambridge, MA, USA., Tabbaa DG; Editas Medicine, Cambridge, MA, USA., Samuelsson SJ; Editas Medicine, Cambridge, MA, USA., Shen S; Editas Medicine, Cambridge, MA, USA., Skor MN; Editas Medicine, Cambridge, MA, USA., Stetkiewicz P; Editas Medicine, Cambridge, MA, USA., Wang T; Editas Medicine, Cambridge, MA, USA., Yudkoff C; Editas Medicine, Cambridge, MA, USA., Myer VE; Editas Medicine, Cambridge, MA, USA., Albright CF; Editas Medicine, Cambridge, MA, USA., Jiang H; Editas Medicine, Cambridge, MA, USA.

Publikováno v: Nature medicine [Nat Med] 2019 Feb; Vol. 25 (2), pp. 229-233. Date of Electronic Publication: 2019 Jan 21.

Genetically modified animal models of hereditary diseases for testing of gene-directed therapy.

Autor: Polikarpova, Anna V.^1,2 a.polikarpova.marlin@gmail.com, Egorova, Tatiana V.^1,2 egorovatv@genebiology.ru, Bardina, Maryana V.^1,2,3 maryana.bardina@gmail.com

Publikováno v: Research Results in Pharmacology. 2022, Vol. 8 Issue 2, p11-26. 16p.

RNA‐based medicine: from molecular mechanisms to therapy.

Autor: Sparmann, Anke, Vogel, Jörg

Publikováno v: EMBO Journal; 11/2/2023, Vol. 42 Issue 21, p1-20, 20p

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).

Autor: Skorczyk-Werner, Anna¹ (AUTHOR) aniaskorczyk@poczta.onet.pl, Niedziela, Zuzanna^1,2 (AUTHOR), Stopa, Marcin² (AUTHOR), Krawczyński, Maciej Robert^1,3 (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 12/11/2020, Vol. 15 Issue 1, p1-19. 19p.

Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

Autor: Xu, Ping, Chen, Zhuolin, Ma, Jianchi, Shan, Yongli, Wang, Yuan, Xie, Bingbing, Zheng, Dandan, Guo, Fuying, Song, Xiaojing, Gao, Guanjie, Ye, Ke, Liu, Yizhi, Pan, Guangjin, Jiang, Bin, Peng, Fuhua, Zhong, Xiufeng

Publikováno v: Human Genetics; Apr2023, Vol. 142 Issue 4, p577-593, 17p