Results 71 to 80 of about 2,890 (187)

Late Presentation of McArdle’s Disease Mimicking Polymyalgia Rheumatica: A Case Report and Review of the Literature

Case Reports in Rheumatology, Volume 2025, Issue 1, 2025.
McArdle disease or glycogen storage disease Type V is a genetic condition caused by PYGM gene mutations leading to exercise intolerance and fatigability. The condition most commonly presents in childhood. In rare cases, patients have presented with late‐onset McArdle disease.
Maiar Elghobashy, Ute Pohl, James Bateman, Constantine Saadeh   +3 more
wiley   +1 more source

Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs)

Biomolecules
Glycogen storage disorders (GSDs) are a group of inherited metabolic disorders characterized by defects in enzymes involved in glycogen metabolism. Deficiencies in enzymes responsible for glycogen breakdown and synthesis can impair mitochondrial function.
Kumudesh Mishra, Or Kakhlon
doaj   +1 more source

Deubiquitinases as novel therapeutic targets for diseases

MedComm, Volume 5, Issue 12, December 2024.
Deubiquitinating enzymes (DUBs) are crucial for cellular homeostasis, modulating ubiquitination by removing ubiquitin or cleaving ubiquitin chains. With about 100 types in humans, DUBs balance the activity of E3 ubiquitin ligases, ensuring proteostasis and responses to stress.
Yali Xian, Jing Ye, Yu Tang, Nan Zhang, Cheng Peng, Wei Huang, Gu He   +6 more
wiley   +1 more source

Transcriptome analysis of atemoya pericarp elucidates the role of polysaccharide metabolism in fruit ripening and cracking after harvest

BMC Plant Biology, 2019
Background Mature fruit cracking during the normal season in African Pride (AP) atemoya is a major problem in postharvest storage. Our current understanding of the molecular mechanism underlying fruit cracking is limited.
Jingjing Chen, Yajie Duan, Yulin Hu, Weiming Li, Dequan Sun, Huigang Hu, Jianghui Xie   +6 more
doaj   +1 more source

A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III

The Journal of Clinical Investigation
Glycogen storage disease type III (GSDIII) is a rare inborn error of metabolism affecting liver, skeletal muscle, and heart due to mutations of the AGL gene encoding for the glycogen debranching enzyme (GDE). No curative treatment exists for GSDIII.
Antoine Gardin, Jérémy Rouillon, Valle Montalvo-Romeral, Lucille Rossiaud, Patrice Vidal, Romain Launay, Mallaury Vie, Youssef Krimi Benchekroun, Jérémie Cosette, Bérangère Bertin, Tiziana La Bella, Guillaume Dubreuil, Justine Nozi, Louisa Jauze, Romain Fragnoud, Nathalie Daniele, Laetitia Van Wittenberghe, Jérémy Esque, Isabelle André, Xavier Nissan, Lucile Hoch, Giuseppe Ronzitti   +21 more
doaj   +1 more source

Supplemental Figures 1-5 from Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis

, 2023
Sunny Guin, Yuanbin Ru, Neeraj Agarwal, Carolyn R. Lew, Charles Owens, Giacomo P. Comi, Dan Theodorescu   +6 more
openalex   +2 more sources

Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case

Open Medicine
Glycogen storage disease type IIIa (GSD IIIa) is a rare etiology among patients with adult-onset myopathy, which is typically associated with axonopathy rather than demyelination.
Zhou Xiajun, Zhong Xingxing, Gao Mingshi, Yue Dongyue, Qiao Kai, Wang Min, Zhi Nan, Cao Wenwei, Han Lu, Lu Jiahong, Zhu Wenhua, Zhao Chongbo, Guan Yangtai   +12 more
doaj   +1 more source

Supplemental Table 4 from Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis

, 2023
Sunny Guin, Yuanbin Ru, Neeraj Agarwal, Carolyn R. Lew, Charles Owens, Giacomo P. Comi, Dan Theodorescu   +6 more
openalex   +2 more sources

A glycogen‐debranching enzyme from Cytophaga [PDF]

FEBS Letters, 1970
Gunja-Smith, Zeenat, Marshall, J.J., Smith, E.E., Whelan, W.J.   +3 more
openaire   +2 more sources

Supplemental Table 3 from Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis

, 2023
Sunny Guin, Yuanbin Ru, Neeraj Agarwal, Carolyn R. Lew, Charles Owens, Giacomo P. Comi, Dan Theodorescu   +6 more
openalex   +2 more sources