Results 41 to 50 of about 49,535 (243)
Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7
Advanced Science, EarlyView.Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim +16 more
wiley +1 more source
Neuromodulation: Technology at the Neural Interface, EarlyView., 2021 Abstract Introduction Deep brain stimulation (DBS) is an effective treatment for refractory obsessive–compulsive disorder (OCD). Neuropsychological assessment contributes to DBS treatment in several ways: it monitors the cognitive safety of the treatment, identifies beneficial or detrimental cognitive side effects and it could aid to explain ...
Tim A. M. Bouwens van der Vlis +7 more
wiley +1 more source
Biology Open, 2020 Cystic fibrosis (CF) is a genetic disease characterized by progressive lung and chronic digestive manifestations. We have shown that therapeutic doses of vardenafil, a phosphodiesterase type 5 (PDE5) inhibitor, corrects CF Transmembrane conductance ...
Barbara Dhooghe +7 more
doaj +1 more source
RNA binding proteins PTBP1 and HNRNPL regulate CFTR mRNA decay
Heliyon, 2023 Background: CFTR nonsense alleles generate negligible CFTR protein due to the nonsense mutation: 1) triggering CFTR mRNA degradation by nonsense-mediated mRNA decay (NMD), and 2) terminating CFTR mRNA translation prematurely.
Amna Siddiqui +5 more
doaj +1 more source
Advanced Science, EarlyView.This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo +17 more
wiley +1 more source
Advanced Science, EarlyView.In microglia, STAT3 upregulates TAB2, which promotes NF‐κB activation through its NZF domain‐mediated recognition of K63‐linked ubiquitin chains, leading to inflammatory cytokine release and subsequent neuronal injury. Lumacaftor suppresses TAB2 expression and directly binds the TAB2‐NZF domain to interrupt K63 ubiquitin recognition, thereby blocking ...
Yanhao Zhao +12 more
wiley +1 more source
Cystic fibrosis, molecular genetics for all life
Journal of Pediatric and Neonatal Individualized Medicine, 2015 Cystic fibrosis (CF) is the most frequent lethal autosomal recessive disorder among Caucasians (incidence: 1:2,500 newborn). In the last two decades CF prognosis considerably improved and many patients well survive into their adulthood.
Ausilia Elce +5 more
doaj +1 more source
CFTR Modulation Reduces SARS-CoV-2 Infection in Human Bronchial Epithelial Cells
Cells, 2022 People with cystic fibrosis should be considered at increased risk of developing severe symptoms of COVID-19. Strikingly, a broad array of evidence shows reduced spread of SARS-CoV-2 in these subjects, suggesting a potential role for CFTR in the ...
Virginia Lotti +12 more
doaj +1 more source
, 2013 The cystic fibrosis transmembrane conductance regulator (CFTR) protein is a cAMP-regulated Cl- channel whose major function is to facilitate epithelial fluid secretion. Loss-of-function mutations in CFTR cause the genetic disease cystic fibrosis. CFTR is
Verkman, Alan S +4 more
core +1 more source
Dual pKa Lipid Nanoparticles for Lung‐tropic mRNA Delivery and pH‐Programmed Endosomal Escape
Advanced Science, EarlyView.Lipid nanoparticles’ bottleneck lies in low endosomal escape efficiency and liver‐dominant delivery after intravenous administration. To overcome these limitations, we present a stepwise pH‐programmed lipid nanoparticle system enabled by our newly synthesized ionizable lipid.
Seong Gi Lim +12 more
wiley +1 more source