Restoration of visual function in adult mice with an inherited retinal disease via adenine base editing

S Suh, EH Choi, H Leinonen, AT Foik… - Nature biomedical …, 2021 - nature.com
Cytosine base editors and adenine base editors (ABEs) can correct point mutations
predictably and independent of Cas9-induced double-stranded DNA breaks (which causes …

The molecular aspects of absorption and metabolism of carotenoids and retinoids in vertebrates

MAK Widjaja-Adhi, M Golczak - … et Biophysica Acta (BBA)-Molecular and …, 2020 - Elsevier
Vitamin A is an essential nutrient necessary for numerous basic physiological functions,
including reproduction and development, immune cell differentiation and communication, as …

In vivo base editing rescues cone photoreceptors in a mouse model of early-onset inherited retinal degeneration

EH Choi, S Suh, AT Foik, H Leinonen… - Nature …, 2022 - nature.com
Leber congenital amaurosis (LCA) is the most common cause of inherited retinal
degeneration in children. LCA patients with RPE65 mutations show accelerated cone …

LRAT coordinates the negative-feedback regulation of intestinal retinoid biosynthesis from β-carotene

S Ramkumar, J Moon, M Golczak, J von Lintig - Journal of Lipid Research, 2021 - ASBMB
There is increasing recognition that dietary lipids can affect the expression of genes
encoding their metabolizing enzymes, transporters, and binding proteins. This mechanism …

Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65

EH Choi, S Suh, CL Sander… - Human Molecular …, 2018 - academic.oup.com
RPE65 is the essential trans–cis isomerase of the classical retinoid (visual) cycle. Mutations
in RPE65 give rise to severe retinal dystrophies, most of which are associated with loss of …

[HTML][HTML] Retinylidene chromophore hydrolysis from mammalian visual and non-visual opsins

JD Hong, D Salom, EH Choi, SW Du, A Tworak… - Journal of Biological …, 2024 - ASBMB
Rhodopsin (Rho) and cone opsins are essential for detection of light. They respond via
photoisomerization, converting their Schiff-base-adducted 11-cis-retinylidene chromophores …

[HTML][HTML] The Lrat−/− rat: CRISPR/Cas9 construction and phenotyping of a new animal model for retinitis pigmentosa

C Koster, KT van den Hurk, CF Lewallen… - International journal of …, 2021 - mdpi.com
Purpose: We developed and phenotyped a pigmented knockout rat model for lecithin retinol
acyltransferase (LRAT) using CRISPR/Cas9. The introduced mutation (c. 12delA) is based …

Lecithin: Retinol Acyl Transferase (LRAT) induces the formation of lipid droplets

MR Molenaar, TA Wassenaar, KK Yadav, A Toulmay… - bioRxiv, 2019 - biorxiv.org
Lipid droplets are unique and nearly ubiquitous organelles that store neutral lipids in a
hydrophobic core, surrounded by a monolayer of phospholipids. The primary neutral lipids …

Chromophore Photochemistry and Hydrolysis in Mammalian Opsins| Implications to Visual Physiology

JDH Hong - 2024 - escholarship.org
The two key cycles that are essential to sustain vision are the photocycle of visual opsins
and the retinoid or visual cycle. Visual opsins include rhodopsin and cone opsin, which are …

LIGAND INTERACTIONS AND CONFORMATIONAL DYNAMICS OF CELLULAR RETINOL-BINDING PROTEINS: IMPLICATIONS FOR OCULAR AND INTESTINAL …

J Plau - 2024 - rave.ohiolink.edu
Retinol-binding proteins play a pivotal role for the regulation of the retinoid metabolism,
thereby influencing crucial physiological processes such as vision, cell division …