A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ).

Autor: Holland SH; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1N 6N5, Canada.; Dr. Eric Poulin Center for Neuromuscular Disorders, Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1N 6N5, Canada., Carmona-Martinez R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada., O'Connor K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1N 6N5, Canada., O'Neil D; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada., Roos A; Dr. Eric Poulin Center for Neuromuscular Disorders, Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1N 6N5, Canada.; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University, 40225 Düsseldorf, Germany., Spendiff S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1N 6N5, Canada.; Dr. Eric Poulin Center for Neuromuscular Disorders, Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1N 6N5, Canada.; Faculty of Medicine, Medical Center, University of Freiburg, 79085 Freiburg, Germany.; Centro Nacional de Analisis Genomico (CNAG), 08028 Barcelona, Spain.

Publikováno v: Biomolecules [Biomolecules] 2024 Oct 03; Vol. 14 (10). Date of Electronic Publication: 2024 Oct 03.

Discovery of biophysical rate laws from the electronic health record enables real-time liver injury estimation from transaminase dynamics.

Autor: Sherman MS; Division of Gastroenterology, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Harvard University, Boston, MA, USA; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: msherman@mgh.harvard.edu., Goessling W; Division of Gastroenterology, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Harvard University, Boston, MA, USA; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Stem Cell Institute, Cambridge, MA, USA; Harvard-MIT Division of Health Sciences and Technology, Cambridge, MA, USA. Electronic address: wgoessling@mgh.harvard.edu.

Publikováno v: Cell reports. Medicine [Cell Rep Med] 2024 Nov 19; Vol. 5 (11), pp. 101828. Date of Electronic Publication: 2024 Nov 12.

GFPT2 expression is induced by gemcitabine administration and enhances invasion by activating the hexosamine biosynthetic pathway in pancreatic cancer.

Autor: Miyazaki K; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan., Ariake K; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan. ariake@surg.med.tohoku.ac.jp.; Department of Gastroenterological Surgery, Sendai City Medical Center Sendai Open Hospital, Sendai, Japan. ariake@surg.med.tohoku.ac.jp., Sato S; Department of Pathology, Tohoku University Hospital, Sendai, Japan., Miura T; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan., Xun J; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan., Douchi D; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan., Ishida M; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan., Ohtsuka H; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan., Mizuma M; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan., Nakagawa K; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan., Kamei T; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan., Unno M; Department of Surgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

Publikováno v: Clinical & experimental metastasis [Clin Exp Metastasis] 2024 Oct; Vol. 41 (5), pp. 777-789. Date of Electronic Publication: 2024 Jun 18.

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.

Autor: Balfoort BM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Pampalone G; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Ruiter JPN; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Denis SW; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Brands MM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Timmer C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., van Karnebeek CD; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Cellini B; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands. Electronic address: s.ferdinandusse@amsterdamumc.nl.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108542. Date of Electronic Publication: 2024 Jul 19.

Augmenting the sensitivity for hepatotoxicity prediction in acute paracetamol overdose: combining psi (ψ) parameter and paracetamol concentration aminotransferase activity multiplication product.

Autor: Chomchai S; Department of Preventive and Social Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Mekavuthikul P; Department of Preventive and Social Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Phuditshinnapatra J; Department of Preventive and Social Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Chomchai C; Division of Science, Mahidol University International College, Nakhon Pathom, Thailand.

Publikováno v: Clinical toxicology (Philadelphia, Pa.) [Clin Toxicol (Phila)] 2024 Nov; Vol. 62 (11), pp. 714-725. Date of Electronic Publication: 2024 Nov 04.