Results 81 to 90 of about 22,029 (242)

Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene

Lipids in Health and Disease, 2006
Summary Background Arylsulfatase A (ASA)-deficient mice are a model for the lysosomal storage disorder metachromatic leukodystrophy. This lipidosis is characterised by the lysosomal accumulation of the sphingolipid sulfatide.
De Deyn PP, D'Hooge R, Mansson JE, Wittke D, Franken S, Lüllmann-Rauch R, Matzner U, Gieselmann V   +7 more
doaj   +1 more source

Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity. [PDF]

PLoS Genet, 2023
Yu M, Ye H, De-Paula RB, Mangleburg CG, Wu T, Lee TV, Li Y, Duong D, Phillips B, Cruchaga C, Allen GI, Seyfried NT, Al-Ramahi I, Botas J, Shulman JM.   +14 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

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie, EarlyView.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +2 more sources

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

Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease. [PDF]

Cells, 2023
El-Hage N, Haney MJ, Zhao Y, Rodriguez M, Wu Z, Liu M, Swain CJ, Yuan H, Batrakova EV.   +8 more
europepmc   +1 more source

Nucleoside‐Modified mRNA Encoding Alpha‐Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC‐Derived Cardiomyocytes

Advanced Science, EarlyView.
Human iPSC‐derived Fabry cardiomyocytes exhibited broad transcriptional dysregulation, apoptosis, mitochondrial dysfunction, impaired reactive oxygen species handling, altered contractility, and abnormal calcium transient decay, potentially mediated by phospholamban hyperphosphorylation.
Malte Juchem, Lea Oehlsen, Sedef Ersoy, Jia Li Ye, Natalie Weber, Elisa Mohr, Wilson Agyapong, Junqing Liu, Maximilian Fuchs, Ke Xiao, Christopher Jahn, Reto Eggenschwiler, Tobias Cantz, Julia Beimdiek, Falk F. R. Buettner, Theresia Kraft, Jan Hegermann, Ivonne J. Knorr, Lisa Ernst, Linda Feldbrügge, Resa Puffert, Kevin Schmidt, Christian Bär, Jeannine Hoepfner, Thomas Thum   +24 more
wiley   +1 more source

A Decoy‐Receptor‐Armed Biomimetic Nanotherapeutic With Inherent Tropism for Conserved Pathogenic Macrophages for Treating Osteoarthritis and Intervertebral Disc Degeneration

Advanced Science, EarlyView.
A biomimetic doppelgänger nanosystem neutralizes extracellular inflammatory cytokines and silences intracellular pyroptosis, reprogramming pathogenic macrophages to attenuate both joint and spine degeneration. ABSTRACT Osteoarthritis (OA) and intervertebral disc degeneration (IVDD) are debilitating musculoskeletal disorders driven by shared ...
Fudong Li, Bin Zhang, Zhiqiu Zhang, Bing Zheng, Linhui Han, Chen Yan, Jialin Li, Kaiqiang Sun, Tianyi Zhao, Jiangang Shi   +9 more
wiley   +1 more source

Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic. [PDF]

Cell, 2021
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Low RLY, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G.   +52 more
europepmc   +1 more source

Engineering CAR‐Macrophages With Advanced Delivery Systems for Tissue Repair

Advanced Science, EarlyView.
This review highlights how engineered macrophages equipped with chimeric antigen receptors (CAR) guide tissue repair by recognizing disease‐related targets, clearing harmful cells, and reshaping local immune environments. It summarizes macrophage biology, CAR design, delivery platforms, and functionalization strategies, and discusses emerging ...
Yixin Zhang, Jintian Yu, Liang Yuan, Ziliang Fu, Yiming Yao, Lingna Chen, Shixiong Chen, Aikemu Ainiwaer, Xiaolin Cui   +8 more
wiley   +1 more source