Retinoid Synthesis Regulation by Retinal Cells in Health and Disease

M Andreazzoli, B Longoni, D Angeloni, GC Demontis - Cells, 2024 - mdpi.com
Vision starts in retinal photoreceptors when specialized proteins (opsins) sense photons via
their covalently bonded vitamin A derivative 11cis retinaldehyde (11cis-RAL). The reaction …

In vivo photoreceptor base editing ameliorates rhodopsin-E150K autosomal-recessive retinitis pigmentosa in mice

SW Du, GA Newby, D Salom, F Gao… - Proceedings of the …, 2024 - pnas.org
Rhodopsin, the prototypical class-A G-protein coupled receptor, is a highly sensitive
receptor for light that enables phototransduction in rod photoreceptors. Rhodopsin plays not …

[HTML][HTML] Catalytic isoforms of AMP-activated protein kinase differentially regulate IMPDH activity and photoreceptor neuron function

TJ Lee, Y Sasaki, PA Ruzycki, N Ban, JB Lin, HT Wu… - JCI insight, 2024 - ncbi.nlm.nih.gov
AMP-activated protein kinase (AMPK) plays a crucial role in maintaining ATP homeostasis in
photoreceptor neurons. AMPK is a heterotrimeric protein consisting of α, β, and γ subunits …

Txnip deletions and missense alleles prolong the survival of cones in a retinitis pigmentosa mouse model

Y Xue, Y Zhou, CL Cepko - Elife, 2024 - elifesciences.org
Retinitis pigmentosa (RP) is an inherited retinal disease in which there is a loss of cone-
mediated daylight vision. As there are> 100 disease genes, our goal is to preserve cone …

Cell type-focused compound screen in human organoids reveals molecules and pathways controlling cone photoreceptor death

SE Spirig, VJ Arteaga-Moreta, Z Raics… - … & Visual Science, 2024 - iovs.arvojournals.org
Purpose: Human organoids that mirror their corresponding organs in cell-type diversity
present an opportunity to perform large-scale screens for compounds that protect disease …

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report

M Hu, S Chen, J Wu, R Wang - BMC pediatrics, 2024 - Springer
Background Alström syndrome (AS) is a rare autosomal recessive disorder that leads to
multiple organ fibrosis and failure. Precise diagnosis from the clinical symptoms is …

AMPK is a Critical Metabolic Regulator of Rod Photoreceptors through IMPDH

TJ Lee - Division of Biology and Biomedical Sciences …, 2024 - search.proquest.com
AMP-activated protein kinase (AMPK) is a crucial regulator of energy homeostasis, and is
considered a central player in replenishing low adenosine triphosphate (ATP) levels by …

Developing a common treatment for cone-mediated vision loss in inherited retinal diseases

A Brunet - 2024 - research-repository.uwa.edu.au
Loss of cones has the highest impact on the quality of life for people living with inherited
retinal diseases (IRDs). Using mouse models of IRDs, this research aimed to unravel the …