Results 101 to 110 of about 2,496,873 (280)

Lysosomal Storage Disorder: The Mechanism of Hurler Syndrome [PDF]

Hurler Syndrome is a rare pediatric neurodegenerative disorder, in which patients experience a multitude of symptoms starting around age 3. These symptoms include skeletal abnormalities, cognitive impairment, stunted growth, heart disease, and many ...
Sebastian, Maria, Ryan, Ashlyn
core   +1 more source

Lysosomal Storage Disease [PDF]

, 2012
How to Cite this Article: Ghofrani M. Lysosomal Storage Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):1-2. For Reading more pls see PDF  
GHOFRANI, Mohammad
core   +1 more source

Dual‐Gene Edited Extracellular Vesicles Remodel the Redox Homeostasis to Inhibit Ferroptosis in Intervertebral Disc Degeneration

Advanced Science, EarlyView.
ABSTRACT Intervertebral disc degeneration (IDD) is driven by ferroptosis of nucleus pulposus cells (NPCs) as a core pathological mechanism. Nucleus pulposus progenitor cells (NPPCs), exhibiting stem cell‐like properties, yield extracellular vesicles (PEVs) with high affinity for NPCs and enable targeted phenotypic regulation.
Jing Yan, Yazhou Lin, Shuo Miao, Minghao Chao, Chengbai Dai, Ziwen Hao, Rui Chen, Ming Guan, Bin Pan, Fenglei Gao, Quan Zhou   +10 more
wiley   +1 more source

Targeting the NR1D1–IGF2BP2–V‐ATPase Axis With Hybrid Nanovesicles Restores Macrophage Rhythms to Reverse Sepsis‐Induced Immunosuppression

Advanced Science, EarlyView.
Sepsis disrupts immune‐cell rhythms and weakens bacterial clearance. Biomimetic nanovesicles combining erythrocyte and inflammation‐activated macrophage membranes deliver siNR1D1 to dysfunctional macrophages, restoring the NR1D1–IGF2BP2–V‐ATPase pathway, circadian regulation, phagolysosomal acidification, and antimicrobial defense.
Lang Chen, Wenyi Lin, Lang Jiang, Xuehui Gao, Chenyan Yu, Jili Han, Zhenping Liu, Xuefeng Li, Mei He, Chang Li, Qilan Li, Chaoying Song, Jiqian Xu, You Shang   +13 more
wiley   +1 more source

Dual pKa Lipid Nanoparticles for Lung‐tropic mRNA Delivery and pH‐Programmed Endosomal Escape

Advanced Science, EarlyView.
Lipid nanoparticles’ bottleneck lies in low endosomal escape efficiency and liver‐dominant delivery after intravenous administration. To overcome these limitations, we present a stepwise pH‐programmed lipid nanoparticle system enabled by our newly synthesized ionizable lipid.
Seong Gi Lim, Minju Lee, Yiming Wang, Eunjin Choi, Ji Sun Park, Kyungmin Park, Hayoung Jeon, Donghyun Kim, Donghyun Lee, Yeeun Lee, Kee‐Pyo Kim, Eunha Kim, Heebeom Koo   +12 more
wiley   +1 more source

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

Lysosomal Storage Diseases. For Better or Worse: Adapting to Defective Lysosomal Glycosphingolipid Breakdown

, 2017
The cellular recycling of glycosphingolipids (GSLs) is mediated by specific lysosomal glycosidases. Inherited deficiencies in these enzymes cause lysosomal storage disorders.
Marques, André R.A., Ferraz, Maria J., Maria J Ferraz, Kuo, Chi-Lin, Saskia V Oussoren, Tanit L Gabriel, Oussoren, Saskia V., Lelieveld, Lindsey T., Aerts, Johannes M., Mirzaian, Mina, Marc D Hazeu, Kassiani Kytidou, Marco Eijk, Boer, Daphne E.C., Boot, Rolf G., Patrick Wisse, Hazeu, Marc D., Chao, Daniela H.M., Daniela HM Chao, van der Lienden, Martijn J.C., Gabriel, Tanit L., Daphne EC Boer, Wisse, Patrick, Johannes M Aerts, Mina Mirzaian, Herman S Overkleeft, Aten, Jan, van Eijk, Marco, Jan Aten, Gaspar, Paulo, André RA Marques, Meijer, Rianne, Overkleeft, Herman S., Lindsey T Lelieveld, Rolf G Boot, Paulo Gaspar, Martijn JC Lienden, Kytidou, Kassiani, Rianne Meijer, Chi‐Lin Kuo   +39 more
core   +1 more source

Macrophage RSAD2 Couples mtDNA Synthesis With a Self‐Amplifying Inflammatory Circuit to Orchestrate Tissue Repair

Advanced Science, EarlyView.
Macrophage RSAD2 dually regulates CMPK2—the rate‐limiting enzyme for mitochondrial DNA synthesis—by suppressing its ubiquitination and promoting its phosphorylation via Csnk2a2 recruitment. This amplifies mtDNA production, which simultaneously activates a cGAS‐STING‐IRF3‐RSAD2 feedforward loop and the NLRP3 inflammasome, driving a self‐sustaining ...
Haomiao Yuan, Shukui Du, Chunfei Li, Xinjie Li, Shuyang Mu, Anran Qu, Hengxu Yan, Chongchong Xu, Jinnong Yang, Jingkai Sun, Yijun Wang, Jiayang Xiao, Fuyuan Zhang, Linlin Wang, Tiegang Li, Rui Zhao, Dawei Guan   +16 more
wiley   +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

Lysosomal storage diseases [PDF]

, 2018
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits.
Platt, Frances, D'Azzo, A, Platt, FM, Neufeld, EF, Tifft, CJ, Davidson, BL   +5 more
core   +1 more source