Results 91 to 100 of about 56,286 (316)

FDA orphan drug designations for lysosomal storage disorders – a cross sectional analysis [PDF]

, 2020
Sven F. Garbade, Matthias Zielonka, Konstantin Mechler, Stefan Kölker, Georg F. Hoffmann, Christian Staufner, Eugen Mengel, Markus Ries   +7 more
openalex   +1 more source

Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation [PDF]

, 2021
Rebecca C. Ahrens‐Nicklas, Luis Tecedor, Arron F Hall, Owen Kane, Richard J. Chung, S. E. Lysenko, Eric D. Marsh, Colleen S. Stein, Beverly L. Davidson   +8 more
openalex   +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

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region

مجلة الكوفة الطبية
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj   +1 more source

Treatment of lysosomal storage disorders

BMJ, 2003
Increased awareness and diagnosis are important as treatment is now feasible The lysosomal storage disorders have hitherto justifiably been consigned to the small print sections of textbooks of biochemistry and internal medicine and optional modules of the undergraduate medical curriculum.
Atul B, Mehta, Susan, Lewis, Christine, Laverey   +2 more
openaire   +3 more sources

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

Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy [PDF]

, 2017
Impairment of peripheral nerve function is frequent in neurometabolic diseases, but mechanistically not well understood. Here, we report a novel disease mechanism and the finding that glial lipid metabolism is critical for axon function, independent of ...
Asadollahi, Ebrahim, Baes, Myriam, Blanz, Judith, Brügger, Britta, de Hoz, Livia, Kassmann, Celia Michèle, Kleinecke, Sandra, Kungl, Theresa, Lüchtenborg, Christian, McGonigal, Rhona, Möbius, Wiebke, Naseri, Kobra, Nave, Klaus-Armin, Quintes, Susanne, Richert, Sarah, Sachsenheimer, Timo, Sereda, Michael W., Willison, Hugh   +17 more
core   +3 more sources

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

Small Molecules

Journal of Inborn Errors of Metabolism and Screening, 2016
Lysosomal storage disorders are rare genetic disorders due to deficient lysosomal activity, which leads to progressive accumulation of nonmetabolized substrates.
Saida Ortolano PhD
doaj   +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