Results 81 to 90 of about 58,222 (243)

Treatment of lysosomal storage disorders

BMJ, 2003
Increased awareness and diagnosis are important as treatment is now feasible The lysosomal storage disorders have hitherto justifiably been consigned to the small print sections of textbooks of biochemistry and internal medicine and optional modules of the undergraduate medical curriculum.
Atul B, Mehta, Susan, Lewis, Christine, Laverey   +2 more
openaire   +3 more sources

TBK1 Induces the Formation of Optineurin Filaments That Condensate with Polyubiquitin and LC3 for Cargo Sequestration

Advanced Science, EarlyView.
Phosphorylation of Optineurin by TBK1 induces the formation of filaments that condensate upon binding to linear polyubiquitin. Membrane‐anchored LC3 partitions into these condensates, suggesting that phase separation of filamentous Optineurin with ubiquitylated cargo promotes the sequestration of cargo and its subsequent alignment with LC3‐positive ...
Maria G. Herrera, Lena Kühn, Lisa Jungbluth, Verian Bader, Laura J. Krause, David Kartte, Elias Adriaenssens, Sascha Martens, Jörg Tatzelt, Carsten Sachse, Konstanze F. Winklhofer   +10 more
wiley   +1 more source

Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis

Pediatrics and Neonatology, 2013
Niemann–Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/
Ozge Surmeli-Onay, Selin Yakarisik, Ayse Korkmaz, Zuhal Akcoren, Aysel Yuce, Heiko Runz, Miriam Stampfer, Murat Yurdakok   +7 more
doaj   +1 more source

XIAP Stabilizes DDRGK1 to Promote ER‐Phagy and Protects Against Noise‐Induced Hearing Loss

Advanced Science, EarlyView.
Mechanism of GAS‐mediated protection against noise‐induced hearing loss (NIHL). Noise exposure activates the ATF4/eIF2α axis, downregulating XIAP and promoting DDRGK1 degradation, thereby inhibiting ER‐phagy and leading to hair cell (HC) death. GAS treatment rescues XIAP and DDRGK1 expression, reactivating ER‐phagy to mitigate HC loss, synaptic damage,
Lin Yan, Yuhua Zhang, Jiawei Du, Yongjun Zhu, Wei Cao, Yongjie Wei, Han Wu, Shiyu Qiu, Shiyi Pan, Lian Chen, Pingping Liang, Renjie Chai, Jianming Yang, Qiaojun Fang   +13 more
wiley   +1 more source

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina

Journal of Inborn Errors of Metabolism and Screening, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Paula A Rozenfeld PhD, Romina Ceci Bioc, Norma Roa Lic, Isaac Kisinovsky MD   +3 more
doaj   +1 more source

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

Saudi Journal of Kidney Diseases and Transplantation, 2016
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj   +1 more source

Inhibition of SLC11A1‐Mediated Lysosomal Iron Accumulation in Microglia Promotes Repair Following White Matter Stroke

Advanced Science, EarlyView.
Genetic and pharmacological inhibition of SLC11A1 functioning as an H+/Fe2+ antiporter–mediated lysosomal iron accumulation in microglia promotes lysosomal lumen acidification, increases CTSD expression, enhances lysosomal myelin debris uptake and degradation, and promotes repair following white matter stroke. ABSTRACT White matter stroke (WMS) results
Lingling Qiu, Yajie Zhang, Yushi Tang, Hongli Hu, Ying Zhang, Junwen Xue, Hao Wang, Yecheng Wang, Chunfeng Liu, Jia Jia, Jian Cheng, Yongjun Cao   +11 more
wiley   +1 more source

ERM Inhibition Confers Ferroptosis Resistance through ROS‐Induced NRF2 Signaling

Advanced Science, EarlyView.
ERM inhibition disrupts ERM‐actin interactions, elevating ROS and triggering KEAP1 degradation, which stabilizes and activates NRF2. Nuclear NRF2 induces cytoprotective genes, notably HMOX1, enhancing redox buffering and suppressing lipid peroxidation to resist erastin‐induced ferroptosis.
Menghao Qiao, Liqun Zhou, Minhua Zhou, Yu Fang, Haiying Mai, Lingbo Cao, Kun Xu, Yuan Sang, Minyi Chen, Jiewei Huang, Peiyi Huang, Zhipeng Yan, Chao Wang, Zhangshuai Dai, Dichun Huang, Ronghan He, Lijuan Pang, Yunmiao Guo, Ting Gang Chew, Junqi Huang   +19 more
wiley   +1 more source

Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

Nature Communications, 2020
Gaucher disease is a lysosomal storage disorder caused by insufficient glucocerebrosidase expression. Here, the authors describe a CRISPR/Cas9-based gene-editing approach to re-express this enzyme in human blood stem cells and show that they can engraft ...
Samantha G. Scharenberg, Edina Poletto, Katherine L. Lucot, Pasqualina Colella, Adam Sheikali, Thomas J. Montine, Matthew H. Porteus, Natalia Gomez-Ospina   +7 more
doaj   +1 more source

Cancer Stem Cells Shift Metabolite Acetyl‐Coenzyme A to Abrogate the Differentiation of CD103+ T Cells

Advanced Science, EarlyView.
Lei et al. demonstrate that cancer stem cells (CSCs) play a pivotal role in impairing the differentiation of CD103+ T cells in patients with non‐small‐cell lung cancer. The key mechanism involves CSC‐derived acetyl‐CoA, which disrupts CD103+ T cell differentiation by sequentially inducing acetylation and ubiquitination of the Blimp‐1 protein. Targeting
Jiaxin Lei, Huiyan Ji, Jing Guo, Mengdi Liu, Danhua Su, Yiran Zheng, Lin Xu, Qinghua Cao, Tao Ren, Jun Gui, Zhenke Wen   +10 more
wiley   +1 more source