Results 161 to 170 of about 22,003 (247)
A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8
Brain Pathology, EarlyView.We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren +5 more
wiley +1 more source
Fig4 deficiency: a newly emerged lysosomal storage disorder? [PDF]
Prog Neurobiol, 2013 Martyn C, Li J.
europepmc +1 more source
SCD2 Alleviates Diabetes‐Associated Cognitive Dysfunction by Improving Microglial Lipid Metabolism
Cell Proliferation, EarlyView.This study reveals a novel mechanism of microglial metabolic dysfunction in diabetic cognitive impairment. Defective SCD2 disrupts monounsaturated fatty acid (MUFA) metabolism, triggering mitochondrial oxidative phosphorylation dysfunction and leading to abnormal lipid droplet accumulation (marked by PLIN2).
Yang Yang +5 more
wiley +1 more source
Intracellular Delivery of β-Galactosidase Enzyme Using Arginase-Responsive Dextran Sulfate/Poly-l-arginine Capsule for Lysosomal Storage Disorder. [PDF]
ACS Omega, 2017 Gupta M, Pandey H, Sivakumar S.
europepmc +1 more source
Cell Proliferation, EarlyView.This study identifies a link between periodontitis and CRC progression mediated by carnosine‐enriched circulating EVs. These EVs target the intestine and elevate tumour cell intracellular pH (pHi), which rescues lysosomal function. This process drives a transition from dysfunctional lysosomes to functional ones, promoting a high malignancy phenotype in
Ruoyi Wu +15 more
wiley +1 more source
Integrated Engineering of CAR‐T Cells for Solid Tumours
Cell Proliferation, EarlyView.Solid tumours pose multifactorial barriers including antigen heterogeneity, immunosuppressive microenvironment, and poor T‐cell trafficking, limiting CAR‐T efficacy compared to hematologic malignancies. Integrated engineering strategies are essential, combining logic‐gated receptors for precision, metabolic‐epigenetic reprogramming for resilience, and ...
Chao Yang +5 more
wiley +1 more source
Consensus definition for developmental regression during childhood
Developmental Medicine &Child Neurology, EarlyView.In this study, 41 expert interdisciplinary clinicians participated in two rounds of a Delphi survey to reach a consensus agreement on the developmental domains and duration of regression. Reaching an agreed working definition is a crucial first step towards the earlier and consistent identification of children experiencing developmental regression ...
Gauravi Gawade +4 more
wiley +1 more source
Proteostasis of organelles in aging and disease
The FEBS Journal, EarlyView.Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
wiley +1 more source
The FEBS Journal, EarlyView.Exercise‐related microRNAs cel‐miR‐249‐3p and cel‐miR‐77‐5p in C. elegans regulate lifespan, fitness, mitochondrial morphology and membrane potential. Although lacking direct mammalian orthologs, H2O2‐induced microRNAs mmu‐miR‐181a‐5p and mmu‐miR‐378a‐3p regulate myogenesis, autophagy, mitochondrial content and respiration in murine myoblasts ...
Qin Xia +7 more
wiley +1 more source
The FEBS Journal, EarlyView.Divalent metal transporter 1 (Dmt1) maintains iron homeostasis and lysosomal proteostasis required for physiological Notch receptor–ligand signaling. Dmt1 loss lowers iron storage capacity (ferritin), increasing intracellular Fe2+, driving ROS and lipid peroxidation, and leading to lysosomal/mitochondrial dysfunction.
Rui Zhang +5 more
wiley +1 more source