Associated Papers
Crystallographic fragment screening supports tool compound discovery and reveals conformational flexibility in human deoxyhypusine synthase.
Wilk P et al.
Communications Chemistry, 2026
Development of a split-toxin CRISPR screening platform to systematically identify regulators of human myoblast fusion.
Zhang H et al.
Nature Communications, 2026
41540035 (PubMed )
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Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.
VanSickle EA et al.
American Journal of Medical Genetics. Part A, 2025
eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.
Beltrán-Corbellini Á et al.
Journal of Neurodevelopmental Disorders, 2025
ERK1/2 interaction with DHPS regulates eIF5A deoxyhypusination independently of ERK kinase activity.
Becker AE et al.
Cell Reports, 2024
Structural Insights into the Mechanisms Underlying Polyaminopathies.
Wu B et al.
International Journal of Molecular Sciences, 2024
Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.
Padgett LR et al.
Hgg Advances, 2023
A genome-wide CRISPR functional survey of the human phagocytosis molecular machinery.
Essletzbichler P et al.
Life Science Alliance, 2023
Cryo-EM structure of human eIF5A-DHS complex reveals the molecular basis of hypusination-associated neurodegenerative disorders.
Wątor E et al.
Nature Communications, 2023
Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment.
Park MH et al.
Amino Acids, 2022
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Ganapathi M et al.
American Journal of Human Genetics, 2019
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.
Romeo S et al.
The Journal of Clinical Investigation, 2009
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