Results 121 to 130 of about 6,268,347 (286)

Prevalence of lysosomal storage disorders

, 1999
CONTEXT: Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although high prevalence values have been reported in some ...
Hopwood, J., Clague, A., Meikle, P., Carey, W.   +3 more
core   +1 more source

Magneto‐NIR‐II‐Programmed Cascade Nanozymes Unlocking Blood–Brain Barrier Translocation and Autophagic Resistance in Glioblastoma

Advanced Science, EarlyView.
Magneto‐NIR‐II‐programmed NFSH nanozymes integrate magnetic blood–brain barrier (BBB) translocation, CD44 targeting, multimodal imaging, and cascade catalytic therapy for glioblastoma. Alternating magnetic fields and NIR‐II irradiation amplify ferroptosis, release H2S, suppress autophagic and mitophagic repair, and reshape the immune microenvironment ...
Ruocan Liu, Yundi Wu, Shuai Zhang, Hongjuan Zhao, Jiping Zheng, Shiyang Shao, Jianqiang Chen, Xilong Wu   +7 more
wiley   +1 more source

The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease. [PDF]

Mol Ther, 2022
Monaco A, Maffia V, Sorrentino NC, Sambri I, Ezhova Y, Giuliano T, Cacace V, Nusco E, De Risi M, De Leonibus E, Schrader T, Klärner FG, Bitan G, Fraldi A.   +13 more
europepmc   +1 more source

Intranasal Delivery of Gallium–Quercetin Nanoparticles for Multi‐Target Ferroptosis Inhibition in Parkinson's Disease

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, Dandan Kou, Xiao Xiao, Bingbing Bai, Caide Liu, Mengyao Wu, Yadan Shi, Mengdan Xu, Xiaoyi Cao, Haodi Qi, Shuhua Wu, Jianfeng Zeng, Mingyuan Gao   +12 more
wiley   +1 more source

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Neurobiology of Disease
Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside.
Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia   +8 more
doaj   +1 more source

β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy. [PDF]

JIMD Rep, 2022
Pedersen JJ, Duno M, Wibrand F, Hammer C, Krag T, Vissing J.   +5 more
europepmc   +1 more source

Engineered Brain‐Targeted Exosomes Delivering FGF1 for Sustained Glycemic Regulation and Multitarget Neurovascular Protection in Diabetic Stroke

Advanced Science, EarlyView.
ABSTRACT Diabetic stroke is characterized by a hyperglycemic and pro‐inflammatory microenvironment that exacerbates neurovascular dysfunction. However, the blood–brain barrier (BBB) remains a formidable obstacle, restricting the delivery of most therapeutic molecules.
Bixin Shen, Chengxiang Zhang, Junhui Wang, Xichong Zhong, Shihao Chen, Xue Wang, Xiaokun Li, Li Lin   +7 more
wiley   +1 more source

Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study. [PDF]

Front Vet Sci, 2021
Tamura S, Tamura Y, Nakamoto Y, Hasegawa D, Tsuboi M, Uchida K, Yabuki A, Yamato O.   +7 more
europepmc   +1 more source

RNA Promotes Synapsin Condensates That Organize Synaptic Vesicles in Live Neurons and Enable Localized Translation in Reconstituted System

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, Zachary M. Geisterfer, Akshita Chhabra, Vladimir M. Jovanovic, Ian Seim, Christian Hoffmann, Antonela Condric, Gerard Aguilar Pérez, Rinse de Boer, Lars T. Hofstede, Jingao Sun, Kiara Freitag, Katja Nowick, Marina Jendrach, Frank L. Heppner, Vladimir Despic, Michaela Müller‐McNicoll, Stephan Sigrist, Geert van den Bogaart, Sofiia Reshetniak, Amy S. Gladfelter, Dragomir Milovanovic   +21 more
wiley   +1 more source

A Multidimensional Engineering Strategy Reprograms Microglia via Targeted and Sustained‐Release Extracellular Vesicles for Spinal Cord Injury Repair

Advanced Science, EarlyView.
A multifunctional EV‐based nanoplatform (Ang‐TEVs@Gel) was engineered via preconditioning, surface targeting, and ROS‐responsive hydrogel encapsulation to reprogram microglia. This system restored autophagy via miR‐664a‐3p/PIK3CA axis, cleared myelin debris, resolved neuroinflammation, and promoted axon remyelination, ultimately achieving robust motor ...
Wu Xiong, Minhao Liu, Mingming Zheng, Jizhou Jia, Ziyan Zhu, Guang Kong, Jie Liu, Juan Wang, Wenbo Li, Qingyuan Wang, Qian Zhu, Peiran Chan, Tao Qin, Jiayang Wu, Yongjie Zhang, Chunming Tang, Cong Li, Jin Fan   +17 more
wiley   +1 more source