Results 101 to 110 of about 56,286 (316)

Reprogramming of lysosomal gene expression by interleukin-4 and Stat6. [PDF]

, 2013
BACKGROUND: Lysosomes play important roles in multiple aspects of physiology, but the problem of how the transcription of lysosomal genes is coordinated remains incompletely understood.
Bartlett, NW, Brignull, LM, Czimmerer, Z, Daniel, B, Johnston, SL, Meira, LB, Nagy, L, Nohturfft, A, Saidi, H, Villela, I   +9 more
core   +2 more sources

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

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source

Presenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative [PDF]

, 2019
© 2018 The Authors. Internal Medicine Journal by Wiley Publishing Asia Pty Ltd on behalf of Royal Australasian College of Physicians.Background: Gaucher disease (GD) presents with a range of signs and symptoms.
Belmatoug , N, Bembi , B, Bright, J, Deodato, F, Di Rocco, M, Goker-Alpan, O, Hughes, DA, Kuter, David, Lukina, EA, Machaczka, M, Mehta, Atul, Mengel, E, Nagral, A, Nakamura, K, Narita, A, Oliveri , B, Pastores, G, Pérez-López, J, Ramaswami, U, Salek, Mir-Saeed Shayegan, Schwartz, IV, Szer, J, Vom Dahl, S, Weinreb, NJ, Zimran, A   +24 more
core   +6 more sources

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

Lysosomal storage disorders: Molecular basis and laboratory testing

Human Genomics, 2011
Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from the defective function of specific lysosomal enzymes and, in cases, of non-enzymatic lysosomal ...
Filocamo Mirella, Morrone Amelia
doaj   +1 more source

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +2 more sources

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

High lumenal chloride in the lysosome is critical for lysosome function

eLife, 2017
Lysosomes are organelles responsible for the breakdown and recycling of cellular machinery. Dysfunctional lysosomes give rise to lysosomal storage disorders as well as common neurodegenerative diseases.
Kasturi Chakraborty, KaHo Leung, Yamuna Krishnan   +2 more
doaj   +1 more source

Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease [PDF]

, 2013
Pompe disease, or glycogen storage disorder type II, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase.
Güngör, D. (Deniz)
core   +1 more source