Results 61 to 70 of about 21,042 (237)

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

EMBO Molecular Medicine, 2013
Mucolipidosis type II (MLII) is a severe multi‐systemic genetic disorder caused by missorting of lysosomal proteins and the subsequent lysosomal storage of undegraded macromolecules.
Katrin Kollmann, Jan Malte Pestka, Sonja Christin Kühn, Elisabeth Schöne, Michaela Schweizer, Kathrin Karkmann, Takanobu Otomo, Philip Catala‐Lehnen, Antonio Virgilio Failla, Robert Percy Marshall, Matthias Krause, Rene Santer, Michael Amling, Thomas Braulke, Thorsten Schinke   +14 more
doaj   +1 more source

Gene therapy in Anderson-Fabry disease. State of the art and future perspectives

Cardiogenetics, 2020
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, agalactosidase A. The inadequate enzymatic activity leads to systemic storage of glycosphingolipids, mostly globotriaosylceramide, in ...
Giorgio Spiniello, Federica Verrillo, Riccardo Ricciolino, Dario Prozzo, Andrea Tuccillo, Martina Caiazza, Marta Rubino   +6 more
doaj   +1 more source

ARL3 Enhances ERα Stability via USP10 Deubiquitination to Promote Endocrine Resistance and Drive Mitochondrial Metabolic Reprogramming in HR+ Breast Cancer

Advanced Science, EarlyView.
This study identifies ADP‐ribosylation factor‐like protein 3 (ARL3) as a novel chaperone that stabilizes estrogen receptor α (ERα) in breast cancer. ARL3 promotes tumor growth by recruiting USP10 to remove ubiquitin chains from ERα, preventing its degradation.
Han Li, Yang Liu, Zehao Cai, Kang Li, Shun Gao, Ailin Lan, Dan Shu, Kuan He, Xin Liu, Yang Peng, Shipeng Guo, Haochen Yu, Aishun Jin, Meiying Shen, Shengchun Liu   +14 more
wiley   +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

Uric Acid Functions as an Endogenous Modulator of Microglial Function and Amyloid Clearance in Alzheimer's Disease

Advanced Science, EarlyView.
Higher serum UA levels are associated with reduced AD risk in epidemiological studies. UA enhances microglial phagocytic capacity primarily by restoring CD36 and TREM2 receptor recycling that is impaired by Aβ exposure. Therapeutically, UA supplementation improves cognitive function and reduces neuropathology in AD mouse model by enhancing microglial ...
De Xie, Qiuyang Zheng, Jiaming Lv, Qian Zhang, Zhiwei Cui, Shuai Huang, Wei Yu, Binyang Chen, Wanling Que, Shanpan Fu, Yuemei Xi, Jiayu Chen, Xueling Ye, Shuyi Chen, Hairong Zhao, Tetsuya Yamamoto, Hidenori Koyama, Xin Wang, Jidong Cheng   +18 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

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

Enzalutamide‐Resistant STEAP4+ MyoCAF Secrete Phosphatidylcholine to Foster Progression by Activating Stemness in Hormone‐Sensitive Prostate Cancer

Advanced Science, EarlyView.
Expanding enzalutamide (ENZ) use in hormone‐sensitive prostate cancer (HSPC) faces resistance. Single‐cell profiling identifies therapy‐resistant STEAP4+ myofibroblastic cancer‐associated fibroblast (SETAP4+ myoCAF). These myoCAFs drive resistance via TFE3‐mediated autophagy and PCYT1A‐led phosphatidylcholine overproduction, creating a phospholipid ...
Wenhao Wang, Jing Zhao, Tiewen Li, Guangjian Fan, Jianong Zhang, Chenghao Zheng, Zhiwen Xie, Yu Zhang, Chengling Feng, Tianyu Cao, Jianyin Li, Guomin Ju, Di Cui, Shujie Xia, Bangmin Han   +14 more
wiley   +1 more source

ACE‐mediated Glycosylation Stabilizes PSAP To Promote GPR37‐dependent Macrophage‐Nucleus Pulposus Cells Crosstalk and TGFβ Signaling in Alleviating Intervertebral Disc Degeneration

Advanced Science, EarlyView.
ACE can modulate the CBL‐mediated K48 ubiquitination degradation of PSAP by altering its glycosylation levels in NP cells. As a result, NP cells secrete PSAP, which interacts with GPR37 on macrophage surfaces, facilitating their polarization toward the M2 phenotype. These M2 macrophages subsequently secrete TGFβ, which exerts feedback effects on the NP
Youfeng Guo, Feng Wang, Bijun Wang, Yu Zhou, Chao Wang, Tao Hu, Desheng Wu   +6 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