Results 61 to 70 of about 23,025 (248)
Stem Cell ResearchFree sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5.
Marya S. Sabir +10 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.Systemic platelet factor 4 (PF4) is significantly depleted in amyotrophic lateral sclerosis (ALS). Peripheral PF4 replenishment restores central proteostasis by driving OPTN‐dependent, PINK1‐independent selective autophagy in motor neurons. This intervention effectively clears toxic SOD1 aggregates, blunts glial activation, and preserves neuromuscular ...
Qingjian Xie +12 more
wiley +1 more source
Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency
Journal of Veterinary Internal MedicineCholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability ...
Pernilla Syrjä +7 more
doaj +1 more source
Advanced Science, EarlyView.A cationic poly(disulfide)‐drug nanoplatform (LA/DexP) was developed to treat experimental autoimmune uveitis (EAU). With potent blood‐retinal barrier penetrability, LA/DexP releases DSP in response to high ROS and scavenges cfDNA to inhibit the cGAS‐STING signaling pathway.
Yuelan Wu +12 more
wiley +1 more source
Advanced Science, EarlyView.Resolution pharmacology is an emerging strategy to tackle inflammatory pathologies. Bioinspired meroterpenoids induce a lipid mediator class switch toward inflammation resolution in vitro and in vivo by targeting key nodes in lipid mediator biosynthesis and neutral lipid dynamics.
Lorenz Waltl +20 more
wiley +1 more source
Advanced Science, EarlyView.Leveraging the chemical similarity between Ga3+ and Fe3+ as well as the antioxidant properties of quercetin, gallium–quercetin nanoparticles (GQNPs) were prepared to integrate iron homeostasis regulation, oxidative stress suppression, and mitochondrial protection for multi‐target ferroptosis inhibition in Parkinson's Disease.
Keyang Xu +12 more
wiley +1 more source
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II
EMBO Molecular Medicine, 2013 Mucolipidosis type II (MLII) is a severe multi‐systemic genetic disorder caused by missorting of lysosomal proteins and the subsequent lysosomal storage of undegraded macromolecules.
Katrin Kollmann +14 more
doaj +1 more source
Advanced Science, EarlyView.Condensates at synapses organize synaptic vesicles (SVs) and are crucial for efficient neurotransmitter release, yet how RNA contributes to this mesoscale architecture remains poorly understood. Here we uncover that RNA modulates synapsin–driven condensates.
Branislava Rankovic +21 more
wiley +1 more source
Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis
Pediatrics and Neonatology, 2013 Niemann–Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/
Ozge Surmeli-Onay +7 more
doaj +1 more source