Results 71 to 80 of about 74,859 (354)

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Annals of Clinical and Translational Neurology, 2020
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian   +14 more
doaj   +1 more source

Biochemical investigations in glycogen storage disease

The Turkish Journal of Pediatrics, 1963
Two cases of glycogenosis are reported and the clinical and biochemical aspects of the disease are discussed.
P Ozand, M Onay, S Balci, S Amiri
doaj  

Isolated glycogen storage disease of the heart

Российский кардиологический журнал, 2019
Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles ...
S. M. Komissarova, N. M. Rineiskaya, N. N. Chakova, S. S. Niyazova, L. I. Plashchinskaya   +4 more
doaj   +1 more source

Structural Mechanism of Laforin Function in Glycogen Dephosphorylation and Lafora Disease [PDF]

, 2015
Glycogen is the major mammalian glucose storage cache and is critical for energy homeostasis. Glycogen synthesis in neurons must be tightly controlled due to neuronal sensitivity to perturbations in glycogen metabolism.
Auger, Kyle D., Brewer, M. Kathryn, Bridges, Travis M, Chakravarthy, Srinivas, Dukhande, Vikas V., Gentry, Matthew S, Hellman, Lance M., Hsu, Simon, Husodo, Satrio, Li, Sheng, Meekins, David A, Paasch, Bradley C., Parker, Matthew W., Raththagala, Madushi, Sanz, Pascual, Sherwood, Amanda R, Taylor, Adam O., Turner, Benjamin D., Vander Kooi, Craig, Wong, Brian K., Woods, Virgil L., Jr.   +20 more
core   +2 more sources

Protective effects of Ziziphus Jujube on clinical and paraclinical findings of glycogen storage disease Ib, a case report and literature review [PDF]

Journal of Advanced Biomedical Sciences, 2017
Background & Objectives: Glycogen storage disease type Ib is a metabolic disease of carbohydrate metabolism. Patients suffer from metabolic disorders as a result of insufficient production of glucose from glycogen, and recurrent infections due to ...
shahsanam Geibi, hadi esamili govarchin galeh, bahman mansori motlagh   +2 more
doaj  

Helicobacter pylori CagA elevates FTO to induce gastric cancer progression via a “hit‐and‐run” paradigm

Cancer Communications, EarlyView.
Abstract Background Helicobacter pylori (H. pylori) infection contributes significantly to gastric cancer (GC) progression. The intrinsic mechanisms of H. pylori‐host interactions and their role in promoting GC progression need further investigation.
Bing He, Yiyang Hu, Yuyun Wu, Chao Wang, Limin Gao, Chunli Gong, Zhibin Li, Nannan Gao, Huan Yang, Yufeng Xiao, Shiming Yang   +10 more
wiley   +1 more source

Radiography of glycogen storage diseases [PDF]

American Journal of Roentgenology, 1979
Sixty-three patients with glycogen storage disease were evaluated. Findings on plain film examinations, excretory urography, barium gastrointestinal studies, ultrasonography, and angiography were categorized by type of glycogen storage disease. In type I findings include hepatomegaly with hepatic dysfunction, renomegaly with an increased incidence of ...
GF Gates, Philip Stanley, John H. Miller
openaire   +3 more sources

Rag GTPases are cardioprotective by regulating lysosomal function. [PDF]

, 2014
The Rag family proteins are Ras-like small GTPases that have a critical role in amino-acid-stimulated mTORC1 activation by recruiting mTORC1 to lysosome.
Guan, Kun-Liang, Jewell, Jenna L, Kim, Young Chul, Mo, Jung-Soon, Park, Hyun Woo, Russell, Ryan C, Sadoshima, Junichi, Sciarretta, Sebastiano, Wu, Xiaohui   +8 more
core   +2 more sources

Glycogen Storage Disease type IIIa:towards precision medicine [PDF]

, 2020
Glycogen storage disease type IIIa (GSDIIIa) is an inherited disorder of glycogen degradation caused by deficient activity of glycogen debranching enzyme in liver and muscle tissue.
Hoogeveen, Irene
core   +2 more sources

Copper in cancer: friend or foe? Metabolism, dysregulation, and therapeutic opportunities

Cancer Communications, EarlyView.
Abstract Copper, one of the essential nutrients for the human body, acts as an electron relay in multiple pathways due to its redox properties. Both deficiencies and excesses of copper lead to cellular fragility. Therefore, it can manifest pro‐ and anti‐cancer properties in tumors. Therefore, it is crucial to clarify the copper activity within the cell.
Dan Shan, Jinling Song, Yuqing Ren, Yuyuan Zhang, Yuhao Ba, Peng Luo, Quan Cheng, Hui Xu, Siyuan Weng, Anning Zuo, Shutong Liu, Xinwei Han, Jinhai Deng, Zaoqu Liu   +13 more
wiley   +1 more source