Mouse models of fragile X-related disorders

R Willemsen, RF Kooy - Disease Models & Mechanisms, 2023 - journals.biologists.com
The fragile X-related disorders are an important group of hereditary disorders that are
caused by expanded CGG repeats in the 5′ untranslated region of the FMR1 gene or by …

Astrocytes in fragile X syndrome

K Talvio, ML Castrén - Frontiers in Cellular Neuroscience, 2024 - frontiersin.org
Astrocytes have an important role in neuronal maturation and synapse function in the brain.
The interplay between astrocytes and neurons is found to be altered in many …

Extracellular vesicles derived from CD4+ T cells carry DGKK to promote sepsis-induced lung injury by regulating oxidative stress and inflammation

G Tu, Y Zhang, J Ma, J Hou, G Hao, Y Su, J Luo… - Cellular & Molecular …, 2023 - Springer
Background Sepsis is an abnormal immune response after infection, wherein the lung is the
most susceptible organ to fail, leading to acute lung injury. To overcome the limitations of …

Rescue of sharp wave-ripples and prevention of network hyperexcitability in the ventral but not the dorsal hippocampus of a rat model of fragile X syndrome

LJ Leontiadis, G Trompoukis, G Tsotsokou… - Frontiers in cellular …, 2023 - frontiersin.org
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by
intellectual disability and is related to autism. FXS is caused by mutations of the fragile X …

Gene therapy using human FMRP isoforms driven by the human FMR1 promoter rescues fragile X syndrome mouse deficits

Y Jiang, L Han, J Meng, Z Wang, Y Zhou… - … Therapy-Methods & …, 2022 - cell.com
Fragile X syndrome (FXS) is caused by the loss of the fragile X messenger ribonucleoprotein
1 (FMRP) encoded by the FMR1 gene. Gene therapy using adeno-associated virus (AAV) to …

Adeno-associated virus vector delivery to the brain: Technology advancements and clinical applications

D Ye, C Chukwu, Y Yang, Z Hu, H Chen - Advanced Drug Delivery Reviews, 2024 - Elsevier
Adeno-associated virus (AAV) vectors have emerged as a promising tool in the development
of gene therapies for various neurological diseases, including Alzheimer's disease and …

EZH2 inhibition reactivates epigenetically silenced FMR1 and normalizes molecular and electrophysiological abnormalities in fragile X syndrome neurons

M Fang, SK Deibler, PM Krishnamurthy… - Frontiers in …, 2024 - frontiersin.org
Fragile X Syndrome (FXS) is a neurological disorder caused by epigenetic silencing of the
FMR1 gene. Reactivation of FMR1 is a potential therapeutic approach for FXS that would …

[HTML][HTML] Diacylglycerol Kinases and Its Role in Lipid Metabolism and Related Diseases

Y Liu, Z Yang, X Zhou, Z Li, N Hideki - International Journal of Molecular …, 2024 - mdpi.com
Lipids are essential components of eukaryotic membranes, playing crucial roles in
membrane structure, energy storage, and signaling. They are predominantly synthesized in …

State‐of‐the‐art therapies for fragile X syndrome

D Protic, R Hagerman - Developmental Medicine & Child …, 2024 - Wiley Online Library
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by a full mutation (>
200 CGG repeats) in the FMR1 gene. FXS is the leading cause of inherited intellectual …

Comparative analysis of PDZ‐binding motifs in the diacylglycerol kinase family

B Zambo, G Gogl, B Morlet, P Eberling… - The FEBS …, 2024 - Wiley Online Library
Diacylglycerol kinases (DGKs) control local and temporal amounts of diacylglycerol (DAG)
and phosphatidic acid (PA) by converting DAG to PA through phosphorylation in cells …