Associated Papers
Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations.
Islam NN et al.
Communications Biology, 2025
40624350 (PubMed )
Supplement: 42003_2025_8334_MOESM3_ESM.zip › PMM2-mutation-prediction-with-AI › Latest_AllModel_WithOutSide_Program_May10th_2024.xlsx › Sheet1
In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.
Hay Mele B et al.
Molecules (basel, Switzerland), 2025
Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.
Peng T et al.
Journal of Assisted Reproduction and Genetics, 2020
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
Chan B et al.
Human Molecular Genetics, 2016
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
Yuste-Checa P et al.
Human Mutation, 2015
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.
Schneider A et al.
Nature Medicine, 2011
Select a paper to view details