Results 41 to 50 of about 37,247 (212)

From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease [PDF]

, 2014
McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity.
Andrea Beggs, Andreu AL, Andrew Wakelin, Borg G, Braakhekke JP, Charlotte Ellerton, Gurgel-Giannetti J, Haller RG, Janice L Holton, Jatin Pattni, Lucia A, Lucia A, Miteff F, Nadaj-Pakleza AA, Pearson C, Pernow BB, Quinlivan R, Renata Siciliani Scalco, Richard Godfrey, Ros Quinlivan, Sherryl Chatfield, Stefen Brady, Vieitez I, Vissing J   +23 more
core   +3 more sources

Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene

Case Reports in Pediatrics, 2020
We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and normal spleen ...
Hamza Hassan Khan, Lauren Parr, Allison Jay, Saleem Raza, Hernando Lyons, Sanjay Kumar   +5 more
doaj   +1 more source

Information transfer in signaling pathways : a study using coupled simulated and experimental data [PDF]

, 2008
Background: The topology of signaling cascades has been studied in quite some detail. However, how information is processed exactly is still relatively unknown.
Pahle, Jürgen, Green, Anne K., Dixon, C. Jane, Kummer, U. (Ursula)   +3 more
core   +5 more sources

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

Liver transplantation for type IV glycogen storage disease [PDF]

, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis, Bannayan, Barbara I. Brown, Brown, Eduardo Yunis, Greene, Illingworth, Ishihara, Ishihara, Mazzaferro, McMaster, Reed, Rick Selby, Ross S. Kendall, Schochet, Stand, Starzl, Thomas E. Starzl   +17 more
core   +1 more source

Dietary essential oils modulate post‐mortem oxidative damage in trout fillets exposed to slaughter stress during frozen storage

Journal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND Slaughter is a critical phase in aquaculture that can severely compromise both animal welfare and product quality. Stress responses triggered during this stage may accelerate post‐mortem biochemical degradation and promote oxidative damage in fish fillets. Essential oils, known for their antioxidant and anti‐inflammatory properties,
Lucía Méndez, Giulia Secci, Lorena Barros, Gabriel Dasilva, Giuliana Parisi, Isabel Medina   +5 more
wiley   +1 more source

Proteome Analysis of Corynebacterium diphtheriae–Macrophage Interaction

PROTEOMICS, EarlyView.
ABSTRACT Contact of Corynebacterium diphtheriae with macrophages induces adaptations on both bacterial and cellular sides. The study presented here was aiming to shed light on the simultaneous intracellular adaptation of the bacteria and changes in the proteome of the phagocytes in response to the internalization of C. diphtheriae.
Luca Musella, Jens Möller, Christopher Lischer, Julio Vera‐Gonzalez, Jörg Hofmann, Lisa Ott, Andreas Burkovski   +6 more
wiley   +1 more source

Glucose-derived spiro-isoxazolines are anti-hyperglycemic agents against type 2 diabetes through glycogen phosphorylase inhibition [PDF]

, 2016
International audienceGlycogen phosphorylase (GP) is a target for the treatment of hyperglycaemia in the context of type 2 diabetes. This enzyme is responsible for the depolymerization of glycogen into glucose thereby affecting the levels of glucose in ...
Azay-Milhau, Jacqueline, Balzarin, Sophie, Chajistamatiou, Aikaterini S., Chrysina, Evangelia D., Docsa, Tibor, Duret, Cédric, Gergely, Pál, Goyard, David, Kónya, Bálint, Leroy, Jérémy, Maurel, Patrick, Petit, Pierre, Praly, Jean-Pierre, Somsák, László, Tournier, Michel, Tousch, Didier, Vidal, Sébastien   +16 more
core   +2 more sources

Revealing the Diverse Allergenic Protein Repertoire of Six Widely Consumed Crab Species: A Species‐Specific Allergen in King Crab

Allergy, EarlyView.
This study comprehended the allergen profiles of six edible crab species using proteomic and transcriptomic analyses and identified 11 putative allergens. King crab has a distinct protein and allergen profile, with the discovery of malate dehydrogenase as a novel king crab‐specific allergen registered as Para c 11.
Shanshan Li, Jingyuan Bian, Qing Xiong, Brian Shing‐Hei Wong, Stephen Kwok‐Wing Tsui, Kin‐Ming Kwan, Nicki Yat‐Hin Leung, Ting‐Fan Leung, Patrick S. C. Leung, Ka‐Hou Chu, Xiaojun Xiao, Christine Yee‐Yan Wai   +11 more
wiley   +1 more source

A novel sequence of the PHKG 2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature

Journal of Medical Case Reports
Background Glycogen storage diseases are a group of inherited metabolic disorders that affect the body’s ability to break down and/or store glycogen. Type IX glycogen storage disease is an inherited disorder caused by a deficiency of phosphorylase kinase,
Seba Harh, Shaza Shahoud, Shady Daher, Diana Alasmar   +3 more
doaj   +1 more source