Associated Papers
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
Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.
Andreotti G et al.
The Journal of Biological Chemistry, 2014
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Schollen E et al.
European Journal of Human Genetics : Ejhg, 2002
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
Matthijs G et al.
Human Mutation, 2000
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.
Bjursell C et al.
Human Mutation, 2000
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.
Erlandson A et al.
Genetic Testing, 2000
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Matthijs G et al.
American Journal of Human Genetics, 1998
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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