Results 91 to 100 of about 25,002 (280)

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

A Wireless 3D Magneto‐Mechanical Stimulation Platform Drives In Situ Chondrogenic Commitment of Endogenous MSCs

Advanced Science, EarlyView.
An intracellular magneto‐mechanical platform utilizing MSC‐targeted nanomotors is developed. After intra‐articular delivery, these nanomotors target endogenous BMSCs and are actuated within lysosomes to execute trans‐planar rotational‐bouncing motions under a rotating‐fluctuating 3D magnetic field, generating amplified mechanical stimulation.
Zhenguang Li, Li Peng, Laiya Lu, Yingying Wang, Xiaolei Chen, Feng Yin, Cuijun Deng, Yu Cheng   +7 more
wiley   +1 more source

Designer Dynamic DNA Nanoaggregate in Living Cell for Mitochondrial Energy Restriction

Advanced Science, EarlyView.
This study presents the Tech‐tetrahedron, a designer dynamic DNA nanoaggregate engineered for precise mitochondrial energy restriction. Its trinity‐functionalized design integrates navigable unit, telomerase‐activated latch, and self‐assembly module.
Ruijia Deng, Jing Sheng, Ben Niu, Wenjuan Fu, Yingjie Yang, Zuowei Xie, Shuang Xie, Yunxuan He, Meilin Gong, Jue Wang, Yan Pi, Ming Chen, Kai Chang   +12 more
wiley   +1 more source

Purifying and profiling lysosomes to expand understanding of lysosomal dysfunction–associated diseases

The Journal of Clinical Investigation
Lysosome storage dysfunction plays a central role in numerous human diseases, but a lack of appropriate tools has hindered lysosomal content profiling in clinical settings. In this issue of the JCI, Saarela et al. introduce a method called tagless LysoIP
Ali Shilatifard, Issam Ben-Sahra
doaj   +1 more source

Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs

, 2022
A progressive neurological disorder was identified in purebred Dalmatian dogs. The disease is characterized by anxiety, pacing and circling, hypersensitivity, cognitive decline, sleep disturbance, loss of coordination, loss of control over urination and ...
Mhlanga-Mutangadura, T., Katz, M., Petesch, S., Johnson, G., Thompson, S., Goebbels, S., Bullock, G.   +6 more
core   +2 more sources

Hemoglobin's α‐Helix‐to‐β‐Sheet Transition Enables Targeted mRNA Delivery to the Lung

Advanced Science, EarlyView.
Acidic heating converts hemoglobin into β‐sheet‐rich fibrils with positively charged surfaces. These hemoglobin fibrils electrostatically complex IL‐11 scFv mRNA, selectively bind circulating platelets, and hitchhike to the lung, where they are enriched in fibroblasts.
Xihua Liu, Saiya Li, Guodong Wu, Shuangjian Li, Long Shuang Huang, Xiaoyang Li, Yiguo Zhao, Wei Lu, Cuixia Sun, Qin Cao, Yapeng Fang, Yiping Cao   +11 more
wiley   +1 more source

Impact of ER stress and the unfolded protein response on Fabry disease

EBioMedicine
Summary: Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the α-galactosidase A (GLA) gene, leading to absent or reduced enzyme activity.
Malte Lenders, Elisa Rudolph, Eva Brand
doaj   +1 more source

Altered cerebellar granule cell differentiation and synapse maturation in a mouse model of a lysosomal lipid storage disease.

, 2020
The rare Niemann-Pick type C1 (NPC1) disease is a lysosomal lipid storage disorder, caused by mutations in the Npc1 gene. Since the encoded protein mediates the outflow of cholesterol from endosomal-lysosomal compartments, these mutations cause ...
Sonia Canterini, Serena Camuso, Micaela Lucarelli, Alessandro Rava, Lucy Babicola, Fiorenza Maria Teresa   +5 more
core  

TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain

Advanced Science, EarlyView.
TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando, Emanuele Buratti, Francesca Paron   +2 more
wiley   +1 more source

Cholesterol Laundry of Cell Membrane and Fatty Liver by Detergent Liposomes to Improve Anti‐Cancer Drug Responsiveness of Patient Liver Tissues

Advanced Science, EarlyView.
Cholesterol‐enriched plasma membranes in hepatocellular carcinoma impede drug penetration. Cholesterol (+)‐liposomes act as membrane‐specific detergents, extracting cholesterol and reducing barrier function without cytotoxicity. Following endocytosis, cholesterol transfers from endosomes to liposomes and is metabolized in the ER.
Chansik Kim, Joo Kyung Noh, Sewoom Baek, Seung Eun Yu, Jueun Kim, Seongyo Lee, Youngji Oh, Dai Hoon Han, Seyong Chung, Hak‐Joon Sung   +9 more
wiley   +1 more source