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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 advanced by cyclic adenosine monophosphate is a vital determinant of endogenous glucose production and is managed 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 issue FKHR. Evidence for insulin response unit-dependent and -independent results of insulin on promoter activity. Rodwell V.W., Bender D.A., Botham K.M., Kennelly P.J., Weil P.A. Harper’s Illustrated Biochemistry. 31st 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 levels of glucose: fifty years of scientific journey.
At Astellas Gene Therapies, our mission is to develop genetic medicines with the potential to transform patients’ lives. Myotonic Dystrophy Type 1. As a part of our dedication to the patients and Healthy Flow Blood families we serve, we're continually searching for to deepen our understanding of the lived expertise of these affected by genetic disorders in order to provide entry to information and resources that might be helpful to the communities we support. Our Patient Partnerships Team is devoted to bringing patient experience into all facets of our improvement applications. Our priority is to weave affected person and caregiver perspectives into the fabric of all that we do on a day-to-day basis. And we advocate for patients and families with the commitment, dedication and fervour that it takes to be sure that our entire group is doing what's greatest for patients. X-Linked Myotubular Myopathy (XLMTM) is a severe rare, genetic situation that impacts skeletal muscles resulting in extreme muscle weakness (hypotonia) and profound respiratory distress, usually requiring invasive ventilation assist. XLMTM is a monogenic disorder, attributable to pathogenic variants in the MTM1 gene, resulting in absent or dysfunctional myotubularin protein. Pompe disease 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 results in accumulation of glycogen in the lysosomes of all cells within the physique. Myotonic dystrophy type 1 (DM1) is a uncommon, genetic, neuromuscular illness that impacts multiple organ methods with symptoms starting from myotonia and muscle weakness to cardiac and respiratory dysfunction, excessive sleepiness, and mental disability. If you have an interest to be taught more in regards to the drug development process and clinical trials for gene therapy treatments, please see the "Our Pipeline" web page.