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Soty M., Chilloux J., Delalande F., Zitoun C., Bertile F., Mithieux G., and Gautier-Stein A. Post-Translational regulation of the glucose-6-phosphatase complicated by cyclic adenosine monophosphate is an important determinant of endogenous glucose production and is controlled by the glucose-6-phosphate transporter. Schmoll D., Walker K.S., Alessi D.R., Grempler R., Burchell A., Guo S., Walther R., Unterman T.G. Regulation of glucose-6-phosphatase gene expression by protein kinase Balpha and the forkhead transcription factor FKHR. Evidence for insulin response unit-dependent and -unbiased effects of insulin on promoter activity. Rodwell V.W., Bender D.A., Botham K.M., Kennelly P.J., Weil P.A. Harper’s Illustrated Biochemistry. Thirty first Edition. Hanson R.W., Reshef L. Regulation of phosphoenolpyruvate carboxykinase (GTP) gene expression. Yabaluri N., Bashyam M.D. Hormonal regulation of gluconeogenic gene transcription in the liver. Kabashima T., Kawaguchi T., Wadzinski B.E., Uyeda K. Xylulose 5-phosphate mediates glucose-induced lipogenesis by xylulose 5-phosphate-activated protein phosphatase in rat liver. Uyeda K. Short- and lengthy-time period adaptation to altered ranges of glucose: fifty years of scientific adventure.

At Astellas Gene Therapies, our mission is to develop genetic medicines with the potential to remodel patients’ lives. Myotonic Dystrophy Type 1. As part of our dedication to the patients and families we serve, we're continually seeking to deepen our understanding of the lived experience of those affected by genetic disorders so as to supply entry to information and assets that might be useful to the communities we help. Our Patient Partnerships Team is dedicated to bringing patient expertise into all aspects of our development packages. Our priority is to weave affected person and caregiver perspectives into the fabric of all that we do on a day-to-day foundation. And we advocate for patients and families with the dedication, dedication and passion that it takes to be sure that our whole group is doing what is best for patients. X-Linked Myotubular Myopathy (XLMTM) is a severe rare, genetic situation that impacts skeletal muscles leading to severe muscle weakness (hypotonia) and profound respiratory distress, typically requiring invasive ventilation help. XLMTM is a monogenic disorder, attributable to pathogenic variants within the MTM1 gene, leading to absent or dysfunctional myotubularin protein. Pompe illness is a rare, inherited disorder characterized by progressive muscle weakness and respiratory impairment. It is caused by acid alpha-glucosidase (GAA) enzyme deficiency resulting from variants in the GAA gene. Absence or deficiency of GAA ends in accumulation of glycogen within the lysosomes of all cells within the physique. Myotonic dystrophy kind 1 (DM1) is a rare, genetic, neuromuscular illness that impacts a number of organ programs with symptoms ranging from myotonia and muscle weakness to cardiac and respiratory dysfunction, extreme sleepiness, and mental disability. If you have an interest to be taught extra about the drug growth course of and clinical trials for gene therapy treatments, please see the "Our Pipeline" page.