Results 81 to 90 of about 3,523,765 (264)

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Biomolecules, 2020
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen ...
Naresh K. Meena, Nina Raben
doaj   +1 more source

Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases [PDF]

, 2019
Perturbations in mitochondrial function and homeostasis are pervasive in lysosomal storage diseases, but the underlying mechanisms remain unknown. Here, we report a transcriptional program that represses mitochondrial biogenesis and function in lysosomal
Fernandez-Mosquera, Lorena, Ikonen, Elina, Milosevic, Ira, Yambire, King Faisal, Raimundo, Nuno, Steinfeld, Robert, Muehle, Christiane, Mühle, Christiane   +7 more
core   +1 more source

Integrative Multi‐Omics Analysis Reveals a Mitochondrial–Immune Axis Associated With Neoadjuvant Chemotherapy Response in High‐Grade Serous Ovarian Cancer

Advanced Science, EarlyView.
Integrative multi‐omics analysis delineates a mitochondrial–immune axis governing neoadjuvant chemotherapy response in high‐grade serous ovarian cancer. Immune‐active tumors exhibit enhanced B‐cell infiltration and favorable sensitivity, whereas metabolically rewired tumors display oxidative phosphorylation dependency and resistance.
Wei Jiang, Yi Wang, Xiaohang Lu, Qianlan Yao, Libing Xiang, Xu Cai, Xiaoyu Tu, Shaoxian Tang, Ying Xu, Yufan Cheng, Liming Shen, Huijuan Yang   +11 more
wiley   +1 more source

Lysosomal Storage Diseases: an overview

, 2018
Lysosomal storage diseases (LSDs)are an heterogenous group rare inherited metabolic diseases caused by mutations mutations in proteins critical critical for lysosomal function.FCT PTDC/BIM-MEC/4762/2014N/
Alves, Sandra
core  

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain [PDF]

, 2015
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy.
Minett, M.S., Mitlett, MS, Kopach, O., Minett, MS, Mills, K., Wood, J.N., Choi, L., Vernon, J., Choi, Minee, Vernon, J, Kopach, O, Meert, T, Clayton, P.T., Clayton, PT, Mills, K, Wood, JN, Meert, T., Choi, L   +17 more
core   +1 more source

Dynamic Regulation of Endogenous Transcription Factor Hubs at Single‐Molecule Resolution

Advanced Science, EarlyView.
This study combines single‐molecule microscopy and genome editing to characterize the dynamic behaviors of endogenous oncofusion transcription factor EWS::FLI1 in Ewing sarcoma cells. EWS::FLI1 forms neomorphic hubs that dynamically assemble and dissolve. The hubs are regulated during mitosis, by RNA, and by specific chemicals.
Shawn Yoshida, Yanghao Zhong, Akiko Kumagai, William G. Dunphy, Shasha Chong   +4 more
wiley   +1 more source

Ultrasound‐Activatable Piezoelectric Hydrogel Reprograms Mitochondrial Epigenetics for Osteoarthritis Therapy via the mTOR/GATD3A Axis

Advanced Science, EarlyView.
An ultrasound‐activatable piezoelectric hydrogel reprograms chondrocyte mitochondrial epigenetics via the mTOR/GATD3A axis, clearing damaged mitochondria and alleviating osteoarthritis progression in both mouse models and human cartilage explants. ABSTRACT The avascular nature of cartilage hinders drug delivery for osteoarthritis (OA) therapy.
Hui Zheng, Pengfei Yan, Peng Liu, Chang Yan, Mengqi Zhao, Zuyong Wang, Chao Ma, Rongkai Zhang, Xi Cui, Swee Hin Teoh   +9 more
wiley   +1 more source

A Metal‐Phenolic Nanocluster Orchestrates Mito‐Ca2+ Metabolic Autonomy for Tumor Ca2+ Interference Therapy

Advanced Science, EarlyView.
Tumor Ca2+ interference therapy suffers from self‐protective Ca2+ metabolic autoregulation. In this scenario, a versatile metal‐phenolic nanocluster (TCMH) is engineered to modulate mitochondrial calcium uniporter (MCU) ‐mediated mito‐Ca2+ metabolic autonomy.
Ronglong Chen, Jia Huang, Yuepeng Wang, Shucong Yao, Fei Wu, Juan Liu, Chunxue Song, Li Lin, Xijun Lin, Yingjie Deng, Chao Zhang, Zhiquan Huang, Zixian Huang, Lisi Xie   +13 more
wiley   +1 more source

Material‐Encoded Synchronization of Immunogenic Cell Death With Adenosine A2A Receptor Blockade Reprograms the Tumor Microenvironment

Advanced Science, EarlyView.
A bismuth–copper diselenide–based nanoplatform (BSCS@PHY) coordinates immunogenic cell death with local A2A receptor blockade in 4T1 tumors. Thermally triggered shell melting exposes catalytic surfaces for glutathione depletion and chemodynamic ROS generation, while co‐delivering an A2AR antagonist and yeast‐wall adjuvant to enhance dendritic‐cell ...
Xiangting Yi, Hanlou Yang, Junting Huang, Pengfei Wu, Shiying Zhou, Zunde Liao, Min Han, Zishan Chen, Xiaoyu Huang, Nan Ma, Jie Zhou, Mingqiang Li, Yiling Zhong   +12 more
wiley   +1 more source

Porcine Deltacoronavirus M Protein Binds NLRP3 to Promote Inflammasome Assembly via Competition with TRIM31

Advanced Science, EarlyView.
Porcine deltacoronavirus (PDCoV) infection induces severe intestinal inflammation and acute diarrhea in piglets, yet the molecular mechanism remains incompletely understood. The M protein activates NLRP3 inflammasome through dual mechanisms: direct binding to the NLRP3 LRR domain and disruption of TRIM31‐mediated K48‐linked ubiquitination.
Jinhui Hou, Fangfang Han, Anqi Liu, Yang Yu, Rui Zhao, Zhengting Shi, Yanrong Lv, Jinli Liu, Shaopo Zu, Zhanyong Wei, Jin Yuan, Hui Hu   +11 more
wiley   +1 more source