Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders

KD Winden, JF Ruiz, M Sahin - Current Opinion in Neurobiology, 2025 - Elsevier
Highlights•Proteostasis is the balance between protein synthesis and degradation and is
perturbed in neurodevelopmental disorders.•Several genes associated with NDDs lead to …

Targeting immunoproteasome in neurodegeneration: A glance to the future

GR Tundo, P Cascio, D Milardi, AM Santoro… - Pharmacology & …, 2023 - Elsevier
The immunoproteasome is a specialized form of proteasome equipped with modified
catalytic subunits that was initially discovered to play a pivotal role in MHC class I antigen …

Overexpression of Nfe2l1 increases proteasome activity and delays vision loss in a preclinical model of human blindness

Y Wang, A Snell, FM Dyka, ER Colvin, C Ildefonso… - Science …, 2023 - science.org
Proteasomes are the central proteolytic machines that are critical for breaking down most of
the damaged and abnormal proteins in human cells. Although universally applicable drugs …

Hypoxic preconditioned MSCs-derived small extracellular vesicles for photoreceptor protection in retinal degeneration

Y Sun, Y Sun, S Chen, Y Yu, Y Ma, F Sun - Journal of Nanobiotechnology, 2023 - Springer
Photoreceptor apoptosis is an important pathogenesis of retinal degeneration and a primary
cause of vision loss with limited treatment methods. Mesenchymal stem/stromal cells …

PERK prevents rhodopsin degradation during retinitis pigmentosa by inhibiting IRE1-induced autophagy

N Zhao, N Li, T Wang - Journal of Cell Biology, 2023 - rupress.org
Chronic endoplasmic reticulum (ER) stress is the underlying cause of many degenerative
diseases, including autosomal dominant retinitis pigmentosa (adRP). In adRP, mutant …

Exploiting Metabolic Defects in Glioma with Nanoparticle-Encapsulated NAMPT Inhibitors

MA Murray, KJ Noronha, Y Wang, AP Friedman… - Molecular Cancer …, 2024 - AACR
The treatment of primary central nervous system tumors is challenging due to the blood–
brain barrier and complex mutational profiles, which is associated with low survival rates …

Losing, preserving, and restoring vision from neurodegeneration in the eye

D Kerschensteiner - Current Biology, 2023 - cell.com
The retina is a part of the brain that sits at the back of the eye, looking out onto the world. The
first neurons of the retina are the rod and cone photoreceptors, which convert changes in …

Gene-agnostic approaches to treating inherited retinal degenerations

LA Chew, A Iannaccone - Frontiers in Cell and Developmental Biology, 2023 - frontiersin.org
Most patients with inherited retinal degenerations (IRDs) have been waiting for treatments
that are “just around the corner” for decades, with only a handful of seminal breakthroughs …

The regeneration-responsive element careg monitors activation of Müller glia after MNU-induced damage of photoreceptors in the zebrafish retina

T Bise, C Pfefferli, M Bonvin, L Taylor… - Frontiers in molecular …, 2023 - frontiersin.org
In contrast to mammals, zebrafish can regenerate their damaged photoreceptors. This
capacity depends on the intrinsic plasticity of Müller glia (MG). Here, we identified that the …

Acyl-CoA synthetase 6 controls rod photoreceptor function and survival by shaping the phospholipid composition of retinal membranes

Y Wang, S Becker, S Finkelstein, FM Dyka… - Communications …, 2024 - nature.com
The retina is light-sensitive neuronal tissue in the back of the eye. The phospholipid
composition of the retina is unique and highly enriched in polyunsaturated fatty acids …