Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder

2019/01/17 by Mythily Ganapathi, Leah R. Padgett, Kentaro Yamada +21 · 25 citations
Biochemistry, Genetics and Molecular Biology · #Polyamine Metabolism and Applications #Amino Acid Enzymes and Metabolism #Epigenetics and DNA Methylation

paper · pdf · doi:10.1016/j.ajhg.2018.12.017

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• Extracellular signal-regulated kinases associate with and phosphorylate DHPS to promote cell proliferation. [europepmc]
• Hypusination Orchestrates the Antimicrobial Response of Macrophages. [europepmc]
• Interactions Between lncRNA TUG1 and miR-9-5p Modulate the Resistance of Breast Cancer Cells to Doxorubicin by Regulating eIF5A2 . [europepmc]
• Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. [europepmc]
• Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development. [europepmc]
• Deoxyhypusine synthase, an essential enzyme for hypusine biosynthesis, is required for proper exocrine pancreas development. [europepmc]
• Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment. [europepmc]
• Neuron-specific ablation of eIF5A or deoxyhypusine synthase leads to impairments in growth, viability, neurodevelopment, and cognitive functions in mice. [europepmc]
• Development of a Redox-Sensitive Spermine Prodrug for the Potential Treatment of Snyder Robinson Syndrome. [europepmc]
• Role of eIF5A in Mitochondrial Function. [europepmc]
• Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder. [europepmc]
• Polyamines and Their Metabolism: From the Maintenance of Physiological Homeostasis to the Mediation of Disease. [europepmc]
• eIF5A is activated by virus infection or dsRNA and facilitates virus replication through modulation of interferon production. [europepmc]
• A genome-wide CRISPR functional survey of the human phagocytosis molecular machinery. [europepmc]
• New K50R mutant mouse models reveal impaired hypusination of eif5a2 with alterations in cell metabolite landscape. [europepmc]
• Cryo-EM structure of human eIF5A-DHS complex reveals the molecular basis of hypusination-associated neurodegenerative disorders. [europepmc]
• Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders. [europepmc]
• The Role of Spermidine and Its Key Metabolites in Important, Pathogenic Human Viruses and in Parasitic Infections Caused by Plasmodium falciparum and Trypanosoma brucei . [europepmc]
• Hypusination Maintains Intestinal Homeostasis and Prevents Colitis and Carcinogenesis by Enhancing Aldehyde Detoxification. [europepmc]
• Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis. [europepmc]
• Bachmann-Bupp syndrome and treatment. [europepmc]
• The Many Faces of Hypusinated eIF5A: Cell Context-Specific Effects of the Hypusine Circuit and Implications for Human Health. [europepmc]
• ERK1/2 interaction with DHPS regulates eIF5A deoxyhypusination independently of ERK kinase activity. [europepmc]
• Hypusinated and unhypusinated isoforms of the translation factor eIF5A exert distinct effects in models of pancreas development and function. [europepmc]