Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR
eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.
Beltrán-Corbellini Á et al.
Journal of Neurodevelopmental Disorders, 2025
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
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
Select a paper to view details