Results 141 to 150 of about 6,268,347 (286)

In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease. [PDF]

Nat Commun, 2021
Bose SK, White BM, Kashyap MV, Dave A, De Bie FR, Li H, Singh K, Menon P, Wang T, Teerdhala S, Swaminathan V, Hartman HA, Jayachandran S, Chandrasekaran P, Musunuru K, Jain R, Frank DB, Zoltick P, Peranteau WH.   +18 more
europepmc   +1 more source

The lysosomal storage disease fucosidosis: towards enzyme replacement therapy [PDF]

, 2016
Wolf H. The lysosomal storage disease fucosidosis: towards enzyme replacement therapy. Bielefeld: Universität Bielefeld; 2016.Fucosidosis is a rare lysosomal storage disease caused by the deficiency of the lysosomal glycosidase a-L-fucosidase resulting ...
Wolf, Heike
core  

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

Lysosomal storage disease in two presumed-related springboks (Antidorcas marsupialis)

, 2010
International audienceIn April 2007, two newborn springboks (Antidorcas marsupialis) from a zoo of southern France were found dead. Necropsy was performed on the two animals and revealed arthrogryposis, mild facial structural abnormalities, and bilateral
Laurent, Sébastien, Nicolier, Alexandra, Colle, Marie-Anne, Sabot, Anne-Sophie   +3 more
core   +1 more source

A Microenvironment‐Adaptive Scaffold Rejuvenates Peripheral Nerve Regeneration During Aging Via Dual Modulation of Ferroptotic Stimuli in Schwann Cells

Advanced Science, EarlyView.
(i) Aging impairs peripheral nerve regeneration via its dual ferroptosis‐mediated pathologies in senescent schwann cells. (ii) The composite nerve conduit is a symbiosis niche integrating microenvironment‐responsive nanoparticles (Ga‐PTAs) and maxillofacial‐derived mesenchymal stem cells (Mmscs).
Ning Zhan, Lixin Tian, Lianjie Peng, Jingyu Zhang, Lining Lin, Xiaoting Zhang, Yaxian Luo, Zhichao Liu, Xinhua Yao, Mouyuan Sun, Yong He, Mengfei Yu, Huiming Wang   +12 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

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

Cut-off values of neonatal lysosomal storage disease-related enzymes detected by tandem mass spectrometry. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2022
Li G, Tian L, Guo Y, Li Y, Sun M, Zou H.
europepmc   +1 more source

Lysosomes and Storage diseases

, 1970
info:eu-repo/semantics ...
Grégoire, Anne, Tondeur, Michel, Pohl, Sylvie, Dustin, Pierre   +3 more
openaire   +1 more source