Results 71 to 80 of about 22,003 (247)

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)

Stem Cell Research
Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5.
Marya S. Sabir, Petcharat Leoyklang, Mary E. Hackbarth, Evgenia Pak, Amalia Dutra, Richard Tait, Laura Pollard, David R. Adams, William A. Gahl, Marjan Huizing, May Christine V. Malicdan   +10 more
doaj   +1 more source

Targeting the HSPA8‐CMA‐ATP6V1A Axis Triggers Lysosomal Hyperacidification and Catastrophic Vacuolation in Prostate Cancer

Advanced Science, EarlyView.
Our experimental evidence supports a model in which ALO targets the HSPA8‐CMA‐ATP6V1A axis to induce lysosomal hyperacidification and initiate osmotic and lipidomic stress. These changes are associated with LMP and loss of lysosomal integrity in prostate cancer cells.
Bingzheng An, Ze Gao, Shuo Chen, Liwei Meng, Chen Zhang, Kefan Song, Haochen Cui, Lei Yan, Zhiqing Fang   +8 more
wiley   +1 more source

Biomimetic Macrophage Cell Membrane‐Based Nanoparticles for Effective Treatment of Glioblastoma Through Boron Neutron Capture Therapy Combined With Immunotherapy

Advanced Science, EarlyView.
ABSTRACT Glioblastoma multiforme (GBM) remains largely incurable due to the blood‐brain barrier (BBB) and immunosuppressive microenvironment. While boron neutron capture therapy (BNCT) selectively eradicates tumor cells via 10B(n, α)‐7Li reactions, its clinical potential in GBM is unrealized because of the suboptimal pharmacokinetics of conventional ...
Jiawen Chen, Haoyu You, Hefa Huang, Huihui Chai, Ruize Zhu, Yun Guan, Qisheng Tang, Tianwen Li, Shan Jiang, Houshi Xu, Peng Wang, Yue Wang, Maoyuan Sun, Beining Liu, Zhen Li, Yulai Zeng, Weiqiu Ping, Yanlin Teng, Songlin Yan, Qinghui Li, Long Gu, Tao Sun, Zhifeng Shi   +22 more
wiley   +1 more source

Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency

Journal of Veterinary Internal Medicine
Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability ...
Pernilla Syrjä, Mathilda M. H. Ylenius, Matilda Kråkström, Alex M. Dickens, Elina Rautala, Anna Huupponen, Anders Eriksson, Sanna J. Viitanen   +7 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

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

Psychological Stress Associated Bile Acid Reprogramming Promotes Hepatocellular Carcinoma Progression

Advanced Science, EarlyView.
Depression is increasingly recognized as a risk factor for chronic diseases, yet its biological impact on cancer remains unclear. Using data from more than 490 000 participants across three international cohorts, we show that depression significantly increases the risk of liver cancer.
Ruijiang Zeng, Mengmeng Wang, Kang Wang, Zhuo Xing, Yulong Hong, Tongtong Li, Geng Zong, Chong Yang, Dan Zhang, Zhangling Chen, Xin Jin   +10 more
wiley   +1 more source

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

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

8‐Oxoguanine Modified CircMTUS1 Drives PABPC1 Phase Separation to Promote Gastric Cancer Progression and Cisplatin Resistance via Autophagy

Advanced Science, EarlyView.
ABSTRACT Gastric cancer (GC) is a major global health concern, as its prevention and treatment remain significant challenges. The 8‐oxoguanine (o8G) modification of circRNAs, alongside their capacity to orchestrate liquid‐liquid phase separation (LLPS) and autophagy, plays a pivotal role in driving tumor progression and determining therapeutic outcomes.
Lei Peng, Lurong Li, Zhenghui Zhu, Chenyang Li, Huaiming Sang, Guoxin Zhang, Xuan Li, Yini Dang, Yuanyuan Li   +8 more
wiley   +1 more source