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
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Briso-Montiano A et al.
Journal of Inherited Metabolic Disease, 2022
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
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.
Coman D et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2007
A new insight into PMM2 mutations in the French population.
Le Bizec C et al.
Human Mutation, 2005
Underdiagnosis of mild congenital disorders of glycosylation type Ia.
Giurgea I et al.
Pediatric Neurology, 2005
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