Results 121 to 130 of about 7,638 (169)

Expert Consensus on Characteristics, Etiology, and Management of Chorioretinal Atrophy in Patients Treated with Voretigene Neparvovec. [PDF]

Ophthalmol Sci
Fischer MD, Audo I, Gaucher D, Holz FG, Kessel L, Russell S, Stingl K, Rousso DL, Maier R, Clemens A, Nagiel A, Leroy BP.   +11 more
europepmc   +1 more source

Early experiences with voretigene neparvovec (Luxturna) gene therapy in Poland: an analysis of four patients with biallelic RPE65 gene mutations

Klinika Oczna
Marcin Stopa, Zuzanna Niedziela-Schwartz, Martyna Mieszczak, Piotr Rakowicz, Maciej Krawczyński   +4 more
doaj   +1 more source

Generation of dual mouse models of retinal degeneration with slow and rapid progression driven by ectopic RIP3 expression. [PDF]

PLoS One
Do Song Y, Kim J, Jang JH, Kim Y, Oh HK, Ji MJ, Choi M, Park M, Kim DW.   +8 more
europepmc   +1 more source

EGFR inhibition promotes functional engraftment and graft survival via donor-derived CHI3L1 in fetal RPE suspension transplantation. [PDF]

Cell Rep Med
Mao X, Yin W, Xu M, Niu Z, Zhong D, Ye B, Xu S, Gao Y, Zhang W, Chen Q, Chen G, Shao NY, Xie P, Ji M, Fan G, Liu Q, Yuan S.   +16 more
europepmc   +1 more source

Gene Therapy for the treatment of retinal dystrophy in the RPE65 knockout mouse using rAAV virus mediated gene therapy.

RPE65 is a gene that is found exclusively within the retina. At the moment the exact role of RPE65 is not known, however recent research has shown that mutations in the RPE65 gene have been found in a number of inherited retinal dystrophies (these ...

core  

Mechanisms and Functions of Chromophore Regeneration in the Classical Visual Cycle: Implications for Retinal Disease Pathogenesis and Therapy. [PDF]

Biomolecules
Yu X, Fan H, Zhang H, Li X.
europepmc   +1 more source

Mild RPE65-Associated Inherited Retinal Dystrophies: A Multimodal Clinical and Genetic Evaluation. [PDF]

Transl Vis Sci Technol
Wolfram L, Merle DA, Kühlewein L, Kempf M, Stingl K, Kohl S, Stingl K.   +6 more
europepmc   +1 more source

Higher Throughput Assays for Understanding the Pathogenicity of Variants of Unknown Significance in the RPE65 Gene. [PDF]

Invest Ophthalmol Vis Sci
Azizzadeh Pormehr L, Manian KV, Cho HE, Redmond TM, Comander J.   +4 more
europepmc   +1 more source

Advanced therapeutic approaches for inherited retinal diseases: an umbrella review. [PDF]

BMJ Open
Ekemiri K, Daniel E, Seemongal-Dass R, Ekemiri C, Victor V, Amobi M, Adebo O, Tekalign T.   +7 more
europepmc   +1 more source

DGAT1-associated lipid-retinoid dysregulation correlates with metabolic impairment in the RPE of Stargardt disease. [PDF]

iScience
Dave A, Ng ESY, Jiang Z, Hu J, Tatang J, Paniagua A, Doeve J, Parikh S, Williams KJ, Stiles L, Radu RA.   +10 more
europepmc   +1 more source