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
A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.
Oliveira T et al.
Orphanet Journal of Rare Diseases, 2025
Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.
Pascoal C et al.
Frontiers in Immunology, 2024
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.
González-Domínguez CA et al.
Molecular Genetics and Metabolism Reports, 2021
Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach.
Thirumal Kumar D et al.
Journal of Biomolecular Structure & Dynamics, 2021
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.
Görlacher M et al.
Molecular Genetics and Metabolism Reports, 2020
A new insight into PMM2 mutations in the French population.
Le Bizec C et al.
Human Mutation, 2005
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0
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