12/31/2023 0 Comments Charles schwartz foundationBiochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation. Schultz CR, Bupp CP, Rajasekaran S, Bachmann AS.Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease. Rajasekaran S, Bupp CP, Leimanis-Laurens M, Shukla A, Russell C, Junewick J, Gleason E, VanSickle EA, Edgerly Y, Wittmann BM, Prokop JW, Bachmann AS. Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development. Prokop JW, Bupp CP, Frisch A, Bilinovich SM, Campbell DB, Vogt D, Schultz CR, Uhl KL, VanSickle EA, Rajasekaran S, Bachmann AS.Nifurtimox-eflornithine combination therapy for second-stage African Trypanosoma brucei gambiense trypanosomiasis: a multicentre, randomised, phase III, non-inferiority trial. Priotto G, Kasparian S, Mutombo W, Ngouama D, Ghorashian S, Arnold U, Ghabri S, Baudin E, Buard V, Kazadi-Kyanza S, Ilunga M, Mutangala W, Pohlig G, Schmid C, Karunakara U, Torreele E, Kande V.Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features. Bupp CP, Schultz CR, Uhl KL, Rajasekaran S, Bachmann AS.Polyamine Synthesis as a target of MYC oncogenes. ICPD has strong ties and collaborates with the Greenwood Genetic Center in South Carolina and the Snyder-Robinson Foundation. The ICPD is headquartered in Grand Rapids, Michigan and serves as the worldwide nexus for comprehensive data/sample collection and scientific information about polyamine-associated diseases. There are at least 20 potential conditions in the polyamine pathway and all would fall under the umbrella of the ICPD scope of work. There are also two other newer conditions in the polyamine pathway (pending publication). The ICPD will serve as a center for clinical evaluation and research for SRS. There are now approximately 65 males with SRS worldwide. It also results in abnormalities of polyamine levels. This condition results from mutations in the spermine synthase gene (SMS) and was first discovered in 2003. Bachmann and Bupp are consulted throughout the world for their expertise.īefore the discovery of the Bachmann-Bupp Syndrome, there was one other known polyamine disorder, Snyder-Robinson Syndrome (SRS). There are now at least eight additional worldwide cases of the Bachmann-Bupp Syndrome and Drs. These latest data were reported in a follow-up report by Schultz, Bupp, Rajasekaran and Bachmann in the Biochemical Journal. Consequently, patients with the Bachmann-Bupp Syndrome could benefit from an FDA-approved drug called DFMO (an ODC inhibitor). The Bupp/Bachmann team was able to demonstrate that both fibroblasts and red blood cells from a Bachmann-Bupp Syndrome (BABS) (OMIM # 619075) patient have exceptionally high ODC (ornithine decarboxylase) enzyme levels and resulting abnormal polyamine levels due to a gain of function mutation in the ODC1 gene.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |