Results 71 to 80 of about 130,693 (343)

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center

Frontiers in Neurology, 2022
BackgroundGlycogen storage disease (GSDs) is characterized by abnormally inherited glycogen metabolism. GSD IXd, which is caused by mutations in the PHKA1 gene, is an X-linked rare disease with mild myopathic symptoms.
Kun Huang, Kun Huang, Hui-Qian Duan, Hui-Qian Duan, Qiu-Xiang Li, Qiu-Xiang Li, Yue-Bei Luo, Yue-Bei Luo, Fang-Fang Bi, Fang-Fang Bi, Huan Yang, Huan Yang   +11 more
doaj   +1 more source

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study

Journal of Korean medical science, 2019
Background Glycogen storage disease (GSD) is an inherited disorder leading to abnormal glucose metabolism and glycogen accumulation, and is associated with various complications including hepatic adenoma and hepatocellular carcinoma.
Hyo-Jeong Jang, H. Yang, J. Ko, J. Moon, J. Chang, J. Seo   +5 more
semanticscholar   +1 more source

Aptamer‐Directed Porous DNA Nanocomposite Hydrogel for Active Pulp Preservation: Immunomodulation, Stem Cell Recruitment and Reparative Dentinogenesis

Advanced Science, EarlyView.
This study presents an injectable DNA‐based porous hydrogel integrating catechol motifs and targeting aptamers for pulpitis management. Upon in situ crosslinking, the scaffold actively recruits endogenous dental pulp stem cells, restores redox homeostasis, and modulates immune responses.
Luhui Cai, Huan Yu, Zihan Ni, Kan Chen, I‐Chen Tsai, Zeyu Bao, Shuo Sun, Weichang Li, Yunhua Chen, Qiong Xu   +9 more
wiley   +1 more source

G6PC mRNA Therapy Positively Regulates Fasting Blood Glucose and Decreases Liver Abnormalities in a Mouse Model of Glycogen Storage Disease 1a

Molecular Therapy, 2018
Glycogen storage disease type Ia (GSD1a) is an inherited metabolic disorder caused by the deficiency of glucose-6-phosphatase (G6Pase). GSD1a is associated with life-threatening hypoglycemia and long-term liver and renal complications.
Daniel Roseman, Tayeba Khan, F. Rajas, Lucy S. Jun, Kirtika H. Asrani, C. Isaacs, J. Farelli, Romesh R. Subramanian   +7 more
semanticscholar   +1 more source

Glycogen storage disease in two sisters: A case report

, 2023
Key Clinical Message Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features.
Ram Chandra Rijal, Sajal Twanabasu, Prabin Duwadee, Jeevan Ghimire, Sushan Homagain   +4 more
core   +1 more source

Light‐Switched Mesenchymal Stem Cells for In Situ Exosome Amplification in Craniofacial Bone Defect Reconstruction

Advanced Science, EarlyView.
Light‐switchable MSCs (MSC‐UCNPs) were constructed by intracellular incorporation of UCNPs. Upon 980 nm irradiation, UCNPs emitted localized ultraviolet light (365 nm), activating the ROS/HEXB/LAMP1 signaling pathway to suppress lysosome–multivesicular body fusion and thereby enhance exosome biogenesis. Embedded within an injectable hydrogel, MSC‐UCNPs
Tingting Wu, Yajing Liu, Shuman Wang, Xiaoming Bai, Luyun Zhang, Yuwei Liu, Zhiwen Fu, Chen Shi   +7 more
wiley   +1 more source

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report

Journal of Medical Case Reports
Background Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects.
Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian   +3 more
doaj   +1 more source

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO Molecular Medicine, 2021
This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil   +21 more
doaj   +1 more source

G6PC Downregulation Promotes Renal Calcium Oxalate Stone Formation via Lactate‐Induced SNAIL1 K206 Lactylation and Epithelial‐Mesenchymal Transition

Advanced Science, EarlyView.
In renal calcium oxalate stone formation, G6PC downregulation leads to lactate accumulation. This lactate mediates CBP/p300‐dependent lactylation of SNAIL1 at K206, promoting its nuclear translocation. Nuclear SNAIL1 activates the TGF‐β/SMAD3 pathway, driving epithelial‐mesenchymal transition and fibrosis, which ultimately facilitates crystal ...
Kai Liu, Boming Zhang, Ruixin Fan, Chen Duan, Yangjun Zhang, Huahui Wu, Xiangyang Yao, Xiongmin Mao, Bo Li, Youmiao Zeng, Zhenzhen Xu, Yang Wang, Mengcheng Luo, Xinyu Xu, Ninghan Feng, Heng Li, Hua Xu   +16 more
wiley   +1 more source

Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance

, 1982
The livers of gsd/gsd rats homozygous for the glycogen storage disease phosphorylase b kinase deficiency were observed by 13C NMR using a surface coil. Clear signals were detected from glycogen.
Griffiths, John R., Richard A., Iles, Stevens, Anthony N., Peter G., Morris   +3 more
core   +1 more source