Results 81 to 90 of about 74,859 (354)

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia

The Turkish Journal of Pediatrics, 2018
Glycogen storage disease type 0 (GSD0) has been considered a rare disorder, it is characterized with ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia.
Bülent Hacıhamdioğlu, Gamze Özgürhan, Bahar Çaran, Evrim Meydan-Aksanlı, Ece Keskin   +4 more
doaj   +1 more source

Promising Prodiginins Biological Activities

Chemistry &Biodiversity, EarlyView.
ABSTRACT Prodiginins are a large family of at least 34 pyrrolic compounds, including the well‐studied red pigment prodigiosin. Prodiginins are produced by several microorganisms displaying broad biological activities, including antimicrobial, antiviral, antiparasitic, antiproliferative, and immunosuppressive activities.
María F. Ladetto, Melisa E. Gantner, Boris E. Rodenak‐Kladniew, Santiago Rodriguez, María L. Cuestas, Alan Talevi, Guillermo R. Castro   +6 more
wiley   +1 more source

Atypical TDP‐43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP

Brain Pathology, Volume 33, Issue 1, January 2023., 2023
In this study Cooper‐Knock et al identified an autosomal dominant ALS pedigree associated with p.Y374X‐TARDBP. In patient tissue the authors confirmed reduced TDP‐43 protein expression, abnormal TDP‐43 fragmentation and deficient TDP‐43‐mediated splicing. This work extends the phenotypes associated with TDP‐43 mutations.
Johnathan Cooper‐Knock, Thomas H. Julian, Emily Feneberg, J. Robin Highley, Maurice Sidra, Martin R. Turner, Kevin Talbot, Olaf Ansorge, Scott P. Allen, Tobias Moll, Tatyana Shelkovnikova, Lydia Castelli, Guillaume M. Hautbergue, Christopher Hewitt, Janine Kirby, Stephen B. Wharton, Richard J. Mead, Pamela J. Shaw   +17 more
wiley   +1 more source

Glycogen storage disease presenting as Cushing syndrome

JIMD Reports, 2019
Impaired growth is common in patients with glycogen storage disease (GSD), who also may have “cherubic” facies similar to the “moon” facies of Cushing syndrome (CS). An infant presented with moon facies, growth failure, and obesity. Laboratory evaluation
Margaret A. Stefater, Joseph I. Wolfsdorf, Nina S. Ma, Joseph A. Majzoub   +3 more
doaj   +1 more source

Serotonergic modulators in Alzheimer's disease: a hope in the hopeless condition

Chemistry &Biodiversity, Accepted Article.
Alzheimer disease (AD) is the main cause of dementia worldwide. AD is a progressive brain neurodegenerative disease due to genetic and environmental factors that induce a progressive accumulation of intracellular hyperphosphorylated tau protein and extracellular amyloid protein (Aβ).
Ali I. Al-Gareeb, Morkoss Fakhry, Ali K. Albuhadily, Athanasios Alexiou, Marios Papadakis, Gaber El-Saber Batiha   +5 more
wiley   +1 more source

NRF2 signalling in cytoprotection and metabolism

British Journal of Pharmacology, EarlyView., 2023
The KEAP1‐NRF2 system plays a central role in cytoprotection in defence mechanisms against oxidative stress. The KEAP1‐NRF2 system has been regarded as a sulfur‐utilizing cytoprotective mechanism, because KEAP1 serves as a biosensor for electrophiles by using its reactive thiols and NRF2 is a transcriptional factor regulating genes involved in sulfur ...
Shohei Murakami, Yusuke Kusano, Keito Okazaki, Takaaki Akaike, Hozumi Motohashi   +4 more
wiley   +1 more source

Portal diversion in glycogen storage disease [PDF]

, 1969
Two children with glycogen storage disease were treated with portacaval transposition. The first is alive and in good health more than 5 years later. She underwent a rapid increase in growth after the operation, while the liver remained the same size ...
Blanchard, H, Brettschneider, L, Brown, BI, Starzl, TE   +3 more
core  

Metabolic crosstalk: molecular links between glycogen and lipid metabolism in obesity. [PDF]

, 2014
Glycogen and lipids are major storage forms of energy that are tightly regulated by hormones and metabolic signals. We demonstrate that feeding mice a high-fat diet (HFD) increases hepatic glycogen due to increased expression of the glycogenic ...
Bridges, Dave, Chang, Louise, Cheng, Alan, Downes, Michael, Evans, Ronald M, Fisher, Kaleigh, Liddle, Christopher, Lin, Jiandie D, Lu, Binbin, Meng, Zhuo-Xian, Saltiel, Alan R, Yang, Yemen, Yu, Ruth T   +12 more
core   +2 more sources

Antioxidants and Antidiabetic Potential of Polyphenolic Fractions and Crude Extracts of Rhus coriaria L. Fruit, Punica granatum L. Peel, and Terminalia catappa L. Leaves: In Vitro and In Vivo Evaluation

Chemistry &Biodiversity, EarlyView.
This graphical abstract represents the extraction, characterization, and biological evaluation of bioactive compounds derived from specific plant sources. The top section illustrates Rhus coriaria (sumac) fruit, Punica granatum (pomegranate) peel and Terminalia catappa (Indian almond) leaves', which are known for their rich phytochemical composition ...
Mudassir Nazir, Muhammad Abdul Haq, Syed Arsalan Ali, Syed Muhammad Ghufran Saeed, Muhammad Ali Ajmal, Muhammad Nisar, Taseer Ahmed Khan, Alexandros Tsoupras, Shahina Naz   +8 more
wiley   +1 more source

Integrative biology of injury in animals

Biological Reviews, Volume 98, Issue 1, Page 34-62, February 2023., 2023
ABSTRACT Mechanical injury is a prevalent challenge in the lives of animals with myriad potential consequences for organisms, including reduced fitness and death. Research on animal injury has focused on many aspects, including the frequency and severity of wounding in wild populations, the short‐ and long‐term consequences of injury at different ...
Corey W. Rennolds, Alexandra E. Bely
wiley   +1 more source