Results 91 to 100 of about 2,058,692 (279)

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

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

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

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

RPLP2 Mediates the Beneficial Effects of Exercise on Stress Resistance Through Muscle–Brain Communication

Advanced Science, EarlyView.
A novel exercise‐inducible myokine acidic ribosomal protein P2 (RPLP2), initially identified from human trials, is presented here, whose circulating levels negatively correlate with clinical anxiety severity. Muscle‐derived RPLP2 enhances hippocampal ribosomal assembly and adult neurogenesis to rescue stress‐induced anxiety deficits.
Peiyu Luo, Wei Wu, Huan Peng, Dan He, Yuxi Guo, Boyue Zhao, Xiaodan Wang, Li Ma, Yuhang Qin, Yifang Zhai, Lixia Zhuo, Ying Zhang, Yijie Guo, Linlin Jing, Fangyao Chen, Erfei Zhang, Wei Wang, Xiancang Ma, Yan Li   +18 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

SPSB1 Promotes Subcutaneous Adipose Hyperplasia in Facial Port‐Wine Stains by Controlling HDAC1 Degradation and Stability Through Two Distinct Proteolytic Pathways

Advanced Science, EarlyView.
In PWS‐ASPCs, FOSL1 drives the expression of SPSB1. SPSB1, as part of the ESC complex, further binds to HDAC1 and promotes K29‐linked and K48‐linked polyubiquitination of HDAC1. These modifications facilitate the degradation of HDAC1 through the ALP and UPS pathways, respectively.
Hongrui Chen, Bin Sun, Yajing Qiu, Chen Hua, Xiaoxi Lin, Wei Gao   +5 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