Results 101 to 110 of about 7,638 (169)

Binding to lipid membrane induces conformational changes in RPE65: implications for its isomerohydrolase activity

, 2011
The visual cycle is a multi-step pathway to recycle 11-cis retinal, the chromophore for both rod and cone visual pigments. The isomerohydrolase RPE65, a membrane-associated enzyme, converts atRE (all-trans-retinyl ester) to 11-cis-retinol, a key step in ...
Karla K. Rodgers, Olga Nikolaeva, Jian-xing Ma, Gennadiy Moiseyev   +3 more
core   +1 more source

LUXTURNATM PARA DISTROFIA RETINIANA ASSOCIADA À MUTAÇÃO DO RPE65 [PDF]

, 2019
INTRODUÇÃO: Distrofia Retiniana (DR) constitui um conjunto de doenças genéticas caracterizadas pela disfunção visual progressiva e causadas por mutações em genes expressos na retina, como o gene RPE65.
Reuter Pimenta, Aline, Rodrigues Gonçalves, Tayrone, Picchioni Baêta, Gabriela, dos Santos Lago, João Victor, Silva, Sarah Francisco   +4 more
core  

Improvements induced by retinal gene therapy with voretigene neparvovec depend on visual cortical hemispheric dominance mechanisms

Communications Medicine
Background RPE65-associated retinal degeneration (RPE65-RD) causes severe visual deficits. Gene therapy with AAV2-hRPE65v2 is a breakthrough but it is currently unknown which visual pathways benefit from treatment and if cortical mechanisms can amplify ...
Mariana Ferreira, João Pedro Marques, Miguel Raimundo, Hugo Quental, Miguel Castelo-Branco   +4 more
doaj   +1 more source

Personalized Pathogenicity Assessment of <i>RPE65</i> Gene Mutations Using Patient-Specific hiPSC-Derived Retinal Pigment Epithelium Model. [PDF]

Int J Mol Sci
Ye K, Zhang S, Xu P, Song X, Wang Y, Zhong X.   +5 more
europepmc   +1 more source

Light-Activated RPE65 Inhibitors Enable On-Demand Visual Cycle Control. [PDF]

J Am Chem Soc
Bassetto M, Li B, Chen X, Zhang J, Hu Y, Zaluski J, Brumit LM, Willis PM, Grun F, Palczewski K, Kiser PD, Tochtrop GP.   +11 more
europepmc   +1 more source

Gene Therapy Using Recombinant Adeno-Associated Virus for Leber Congenital Amaurosis Induced by RPE65 Mutation. [PDF]

Clin Ophthalmol
Owliaee I, Teimoori A, Shoushtari M, Shojaeian A.   +3 more
europepmc   +1 more source

Multi-Luminance Mobility Test (MLMT) as a tool for assessing functional vision in patients with RPE65 gene mutations following gene therapy (voretigene neparvovec)

Klinika Oczna
Martyna Mieszczak, Marika Pitnoczko, Kinga Obst, Zuzanna Niedziela-Schwartz, Piotr Rakowicz, Maciej Krawczyński, Marcin Stopa   +6 more
doaj   +1 more source

Full-Field Stimulus Threshold: A Key Functional Outcome Measure in Retinal Diseases and Clinical Trials. [PDF]

J Clin Med
Macha N, Yu M.
europepmc   +1 more source

Chromophore-loaded CRALBP restores rod visual cycle in chromophore-deficient mice. [PDF]

Mol Ther Adv
van de Werken RP, Sparrow JR, Tsang SH.
europepmc   +1 more source

Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa. [PDF]

Transl Vis Sci Technol
Wu G, Guo Q, Li Y, Yao S, You Y, Hao L, Lei B.   +6 more
europepmc   +1 more source