Associated Papers
A new horizon in the phosphorylated sites of AGA: the structural impact of C163S mutation in aspartylglucosaminuria through molecular dynamics simulation.
Balasundaram A et al.
Journal of Biomolecular Structure & Dynamics, 2024
A cross-sectional natural history study of aspartylglucosaminuria.
Goodspeed K et al.
Jimd Reports, 2022
Optical coherence tomography features in brothers with aspartylglucosaminuria.
Goodspeed K et al.
Annals of Clinical and Translational Neurology, 2018
Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria.
Pande S et al.
Febs Letters, 2018
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria.
Banning A et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production.
Banning A et al.
International Journal of Molecular Sciences, 2017
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria.
Banning A et al.
Scientific Reports, 2016
Select a paper to view details