Results 81 to 90 of about 41,053 (230)

TFEB overexpression alleviates autophagy-lysosomal deficits caused by progranulin insufficiency

Scientific Reports
Progranulin is a pro-protein that is necessary for maintaining lysosomal function. Loss-of-function progranulin (GRN) mutations are a dominant cause of frontotemporal dementia (FTD).
Wren O. Nader, Kaylan S. Brown, Nicholas R. Boyle, Azariah K. Kaplelach, Shaimaa M. Abdelaziz, Skylar E. Davis, Qays Aljabi, Ahmad R. Hakim, Amelia G. Davidson, Giacynta A. Vollmer, Leah C. Wright, J. Bailey Echols, Joelle Saad, Nicholas S. Pena, Andrew E. Arrant   +14 more
doaj   +1 more source

Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program

International Journal of Neonatal Screening
Newborn screening laboratories are increasingly adding lysosomal storage disorders (LSDs), such as Mucopolysaccharidosis I (MPS I) and Pompe disease, to their screening panels. Without newborn screening, LSDs are frequently diagnosed only after the onset
Lacey Vermette, Jon Washburn, Tracy Klug
doaj   +1 more source

Platelet Rubicon Bidirectional Regulation of GPVI and Integrin αIIbβ3 Signaling Mitigates Stroke Infarction Without Compromising Hemostasis

Advanced Science, EarlyView.
This study identifies Rubicon as a key platelet protein that bidirectionally regulates GPVI and integrin αIIbβ3 signaling. Platelet Rubicon protects against cerebral ischemia‐reperfusion injury by limiting infarction without increasing hemorrhage.
Xiaoyan Chen, Jingke Li, Yangyang Liu, Li Li, Xin Deng, Yilin Sheng, Xianyu Zhu, Xiao Jiang, Wei Li, Xueli Cai, Qiming Sun, Hu Hu   +11 more
wiley   +1 more source

Gaucher disease mouse models: point mutations at the acid β-glucosidase locus combined with low-level prosaposin expression lead to disease variants

Journal of Lipid Research, 2005
Gaucher disease is a common lysosomal storage disease caused by a defect of acid β-glucosidase (GCase). The optimal in vitro hydrolase activity of GCase requires saposin C, an activator protein that derives from a precursor, prosaposin.
Ying Sun, Brian Quinn, David P. Witte, Gregory A. Grabowski   +3 more
doaj   +1 more source

Regulating Tumor Metabolic Reprogramming with Biomimetic Co‐Delivery of Simvastatin and Kynureninase for Immunotherapy

Advanced Science, EarlyView.
After the intravenous injection of biomimetic and pH/ROS‐responsive PTSK@CRM, the nanoparticles can be accumulated in tumors and release Sim and KYNase to inhibit the tumor growth, regulate the metabolism of cholesterol and Kyn, and reverse the immunosuppressive tumor microenvironment.
Jiaxin Yin, Shengcai Yang, Zengguang Liu, Songchen Zhao, Siyu Sun, Ziling Liu, Quanshun Li   +6 more
wiley   +1 more source

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

Disease Models & Mechanisms, 2016
Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates.
Heike Wolf, Markus Damme, Stijn Stroobants, Rudi D'Hooge, Hans Christian Beck, Irm Hermans-Borgmeyer, Renate Lüllmann-Rauch, Thomas Dierks, Torben Lübke   +8 more
doaj   +1 more source

Extracellular Vesicle‐Delivered tRF‐His‐GTG‐1 Reprograms Neutrophil Lipophagy and Triggers Inflammation in COVID‐19

Advanced Science, EarlyView.
This study identifies platelet‐derived extracellular vesicles as key immunometabolic regulators in COVID‐19. The delivery of tRF‐His‐GTG‐1 to neutrophils activates TLR8mTOR signaling, disrupts lipophagy, and amplifies NET‐mediated inflammation. Importantly, targeting this axis restores neutrophil homeostasis, offering a potential therapeutic strategy ...
Tsai‐Ling Liao, Po‐Yu Liu, Yi‐Ming Chen, Kuo‐Tung Tang, Hung‐Jen Liu, Der‐Yuan Chen   +5 more
wiley   +1 more source

TBK1 Induces the Formation of Optineurin Filaments That Condensate with Polyubiquitin and LC3 for Cargo Sequestration

Advanced Science, EarlyView.
Phosphorylation of Optineurin by TBK1 induces the formation of filaments that condensate upon binding to linear polyubiquitin. Membrane‐anchored LC3 partitions into these condensates, suggesting that phase separation of filamentous Optineurin with ubiquitylated cargo promotes the sequestration of cargo and its subsequent alignment with LC3‐positive ...
Maria G. Herrera, Lena Kühn, Lisa Jungbluth, Verian Bader, Laura J. Krause, David Kartte, Elias Adriaenssens, Sascha Martens, Jörg Tatzelt, Carsten Sachse, Konstanze F. Winklhofer   +10 more
wiley   +1 more source

XIAP Stabilizes DDRGK1 to Promote ER‐Phagy and Protects Against Noise‐Induced Hearing Loss

Advanced Science, EarlyView.
Mechanism of GAS‐mediated protection against noise‐induced hearing loss (NIHL). Noise exposure activates the ATF4/eIF2α axis, downregulating XIAP and promoting DDRGK1 degradation, thereby inhibiting ER‐phagy and leading to hair cell (HC) death. GAS treatment rescues XIAP and DDRGK1 expression, reactivating ER‐phagy to mitigate HC loss, synaptic damage,
Lin Yan, Yuhua Zhang, Jiawei Du, Yongjun Zhu, Wei Cao, Yongjie Wei, Han Wu, Shiyu Qiu, Shiyi Pan, Lian Chen, Pingping Liang, Renjie Chai, Jianming Yang, Qiaojun Fang   +13 more
wiley   +1 more source

Inhibition of SLC11A1‐Mediated Lysosomal Iron Accumulation in Microglia Promotes Repair Following White Matter Stroke

Advanced Science, EarlyView.
Genetic and pharmacological inhibition of SLC11A1 functioning as an H+/Fe2+ antiporter–mediated lysosomal iron accumulation in microglia promotes lysosomal lumen acidification, increases CTSD expression, enhances lysosomal myelin debris uptake and degradation, and promotes repair following white matter stroke. ABSTRACT White matter stroke (WMS) results
Lingling Qiu, Yajie Zhang, Yushi Tang, Hongli Hu, Ying Zhang, Junwen Xue, Hao Wang, Yecheng Wang, Chunfeng Liu, Jia Jia, Jian Cheng, Yongjun Cao   +11 more
wiley   +1 more source