Results 121 to 130 of about 31,724,613 (234)

Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers

Journal of Translational Medicine
Background Glycogen Storage Disease (GSD) Types Ia and Ib are rare metabolic diseases caused by gene variants in G6PC1 and SLC37A4, respectively. Although life-threatening fasting hypoglycemia can be controlled by a strict diet, patients often suffer ...
Ruiqi Xiao, Candelas Gross-Valle, Albert Gerding, Adam M. Thorne, Maaike H. Oosterveer, Terry G. J. Derks, Vincent E. de Meijer, M. Rebecca Heiner-Fokkema, Barbara M. Bakker, Justina C. Wolters   +9 more
doaj   +1 more source

FDG PET/CT in Type I Glycogen Storage Disease

, 2016
International audienceType I glycogen storage disease (GSD) is a rare autosomal recessive disorder caused by glucose-6-phosphatase deficiency. We report herein the particular pattern provided by FDG PET imaging in a 33-year-old patient with type Ib GSD ...
Marie, Pierre Yves, Verger, Antoine, Manca, Chloé, Claudin, Marine, Belle, Arthur   +4 more
core   +1 more source

Additive Glucagonotropic and Insulinotropic Effects of Glucose‐Dependent Insulinotropic Polypeptide and Alanine in Fasted Healthy Men

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims/Hypothesis Glucose‐dependent insulinotropic polypeptide (GIP) is a bidirectional glucose‐stabilising hormone potentiating insulin secretion at high glucose levels and glucagon secretion during normal‐to‐low plasma glucose levels. Preclinically, GIP and the amino acid alanine show synergistic glucagonotropic effects at low glucose levels ...
Julie Warnøe, Aliya M. Thomas, David S. Mathiesen, Mathilde K. Preskou, Joachim Størling, Mikkel B. Christensen, Bolette Hartmann, Jens J. Holst, Samuel A. J. Trammell, Jonathan E. Campbell, Thomas F. Dejgaard, Asger B. Lund, Filip K. Knop, Lærke S. Gasbjerg   +13 more
wiley   +1 more source

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model

JCI Insight
Background Glycogen storage disease type IV (GSD IV) is an ultrarare autosomal recessive disorder that causes deficiency of functional glycogen branching enzyme and formation of abnormally structured glycogen termed polyglucosan. GSD IV has traditionally
Rebecca L. Koch, Bridget T. Kiely, Su Jin Choi, William R. Jeck, Leticia S. Flores, Vikrant Sood, Seema Alam, Gilda Porta, Katy LaVecchio, Claudia Soler-Alfonso, Priya S. Kishnani   +10 more
doaj   +1 more source

Frequency of G6PC1 and SLC37A4 Genetic Variants in Asian Patients With Glycogen Storage Disease Type I: A Systematic Review [PDF]

Journal of Pediatrics Review
Background: Glycogen storage disease type I (GSD I), or Von Gierke disease, is a rare autosomal recessive disorder caused by mutations in the G6PC1 (GSD Ia) or SLC37A4 (GSD Ib) genes.
Fatemeh Alian, Nastaran Bagheri, Parisa Fayyazpour, Zahra Torki, Mahin Hashemipour, Mansoor Salehi, Saeideh Abdolahpour, Tayebeh Ranjbarnejad, Silva Hovsepian, Noushin Rostampour   +9 more
doaj  

Metabarcoding of Pollen Carried by Syrphids Reveals Novel Plant–Pollinator Interactions in a Protected Natural Area and Agricultural Sites

Entomologia Experimentalis et Applicata, EarlyView.
Using DNA metabarcoding, this study investigates pollen transported by syrphids (Syrphidae) in the Dolomiti Bellunesi National Park and agricultural sites in Northern Italy. The analysis reveals a high diversity of visited plant taxa, including previously undocumented plant–pollinator interactions.
Serena Magagnoli, Daniele Sommaggio, Claudio Ratti, Riccardo Baroncelli, Andrea Menicucci, Enrico Vettorazzo, Giovanni Burgio   +6 more
wiley   +1 more source

CD36‐mediated lipid rewiring in the metabolic adaptation of tumour ecosystems

The FEBS Journal, EarlyView.
Nutrient deprivation drives a lipid‐centric shift in tumour metabolic symbiosis and signalling network. CD36 functions as a bidirectional bridge, transferring fatty acids from stromal donors (adipocytes, CAFs) to the ecosystem tumour‐ and microenvironment‐dependently.
Anna Sebestyén, Viktória Varga, Fatime Szalai, Risa Miyaura, Nóra Förhécz, Bálint Csikós, Rebeka Gelencsér, Zsófia Gábriel, Timea Komlódi, Katalin Dezső, Ildikó Krencz, Dorottya Moldvai   +11 more
wiley   +1 more source

Tankyrase‐2 regulates adipocyte differentiation through AMPK/mTOR signaling

The FEBS Journal, EarlyView.
Tankyrase 2 (TNKS2), a PARP family member, underpins adipocyte differentiation. TNKS2 controls LKB1 protein level, and consequently, the activity of the mTOR/AMPK system and adipocyte differentiation through a layered process. Pharmacological inhibition of TNKS2 leaves other PARPs and DNA repair active and therefore represents a novel target in ...
Boglarka Rauch, Gyula Ujlaki, Szilard Poliska, Nakayi Murahwa, Patrik Kovacs, Aladar Pettko‐Szandtner, Karen Uray, Peter Bai   +7 more
wiley   +1 more source

Renal glycogen handling in diabetes: A narrative review of diabetic kidney disease pathogenesis

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Kidney disease is a major microvascular complication of diabetes, affecting approximately 40% of individuals with diabetes, and is a leading cause of end‐stage renal disease. Besides the functional consequences of hyperglycemia; hemodynamic alterations are well understood.
Deenadhayalan Ashok, Poornima Ajay Manjrekar, Bhushan Chandrahasa Shetty, Sujina Simon Sailet   +3 more
wiley   +1 more source

Isolation and Identification of Erysipelothrix sp. in Hybrid Grouper (Epinephelus fuscoguttatus × E. lanceolatus) in Taiwan

Journal of Fish Diseases, EarlyView.
ABSTRACT In February 2025, a mortality event of unknown aetiology occurred at a hybrid grouper (Epinephelus fuscoguttatus × Epinephelus lanceolatus) aquaculture farm in southern Taiwan, with sporadic daily deaths persisting for a month. Four moribund groupers were collected over three sampling intervals for diagnostic investigation.
Shang‐Ting Wu, Yu‐Siang Lin, Chia‐Yu Hsieh   +2 more
wiley   +1 more source