Insulin-regulated serine and lipid metabolism drive peripheral neuropathy

MK Handzlik, JM Gengatharan, KE Frizzi… - Nature, 2023 - nature.com
Diabetes represents a spectrum of disease in which metabolic dysfunction damages
multiple organ systems including liver, kidneys and peripheral nerves,. Although the onset …

[HTML][HTML] Non-vasogenic cystoid maculopathies

A Gaudric, I Audo, C Vignal, A Couturier… - Progress in Retinal and …, 2022 - Elsevier
Besides cystoid macular edema due to a blood-retinal barrier breakdown, another type of
macular cystoid spaces referred to as non-vasogenic cystoid maculopathies (NVCM) may be …

Mendelian randomization analyses in ocular disease: a powerful approach to causal inference with human genetic data

J Li, C Li, Y Huang, P Guan, D Huang, H Yu… - Journal of Translational …, 2022 - Springer
Ophthalmic epidemiology is concerned with the prevalence, distribution and other factors
relating to human eye disease. While observational studies cannot avoid confounding …

Metabolism dysregulation in retinal diseases and related therapies

Y Chen, NJ Coorey, M Zhang, S Zeng, MC Madigan… - Antioxidants, 2022 - mdpi.com
The human retina, which is part of the central nervous system, has exceptionally high energy
demands that requires an efficient metabolism of glucose, lipids, and amino acids …

New insight of metabolomics in ocular diseases in the context of 3P medicine

Q Zhang, N Wang, Y Rui, Y Xia, S Xiong, X Xia - EPMA Journal, 2023 - Springer
Metabolomics refers to the high-through untargeted or targeted screening of metabolites in
biofluids, cells, and tissues. Metabolome reflects the functional states of cells and organs of …

Single-cell multiome of the human retina and deep learning nominate causal variants in complex eye diseases

SK Wang, S Nair, R Li, K Kraft, A Pampari, A Patel… - Cell genomics, 2022 - cell.com
Genome-wide association studies (GWASs) of eye disorders have identified hundreds of
genetic variants associated with ocular disease. However, the vast majority of these variants …

Structure and function of the SIT1 proline transporter in complex with the COVID-19 receptor ACE2

HZ Li, ACW Pike, I Lotsaris, G Chi, JS Hansen… - Nature …, 2024 - nature.com
Proline is widely known as the only proteogenic amino acid with a secondary amine. In
addition to its crucial role in protein structure, the secondary amino acid modulates …

Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids

ED Thomas, AE Timms, S Giles, S Harkins-Perry… - Developmental cell, 2022 - cell.com
Cis-regulatory elements (CREs) play a critical role in the development and disease-states of
all human cell types. In the retina, CREs have been implicated in several inherited disorders …

Ciliary neurotrophic factor-mediated neuroprotection involves enhanced glycolysis and anabolism in degenerating mouse retinas

K Do Rhee, Y Wang, J Ten Hoeve, L Stiles… - Nature …, 2022 - nature.com
Ciliary neurotrophic factor (CNTF) acts as a potent neuroprotective cytokine in multiple
models of retinal degeneration. To understand mechanisms underlying its broad …

iPSC–derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function

KT Eade, BRE Ansell, S Giles, R Fallon… - The Journal of …, 2023 - Am Soc Clin Investig
Patient-derived induced pluripotent stem cells (iPSCs) provide a powerful tool for identifying
cellular and molecular mechanisms of disease. Macular telangiectasia type 2 (MacTel) is a …