In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1 [PDF]
MoleculesPhosphomannomutase 2 (PMM2) catalyzes the interconversion of mannose-6-phosphate and mannose-1-phosphate, a key step in the biosynthesis of GDP-mannose for N-glycosylation. Its deficiency is the most common cause of congenital disorders of glycosylation (
Bruno Hay Mele +4 more
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Lipo-Glc-1,6-P<sub>2</sub>: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation. [PDF]
IUBMB LifeABSTRACT Phosphomannomutase‐2 (PMM2) deficiency leads to the prominent Congenital Disorder of Glycosylation (CDG), a rare disease currently lacking effective treatment options. The complete absence of PMM2 activity is incompatible with life, and all patients carry at least one missense destabilising variant that allows residual enzymatic function. This
Sodano F +10 more
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Clinical utility gene card for: Phosphomannomutase 2 deficiency. [PDF]
Eur J Hum Genet, 2014 Item does not contain ...
Jaeken J, Lefeber D, Matthijs G.
europepmc +5 more sources
Effect of mutations found in carbohydrate‐deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2 [PDF]
FEBS Letters, 1999 Seven mutant forms of human phosphomannomutase 2 were produced in Escherichia coli and purified. These mutants had a V max of 0.2–50% of the wild enzyme and were unstable. The least active protein (R141H) bears a very frequent mutation, which has never been found in the homozygous state whereas the second least active protein (D188G) corresponds to a ...
Pirard, Michel +6 more
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The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2009 Congenital disorders of glycosylation are a clinically and genetically heterogeneous group of disorders resulting from abnormal glycosylation of various glycoconjugates. The first description of congenital disorders of glycosylation was published in the early 80s and once screening tests for glycosylation disorders (CDGs) became readily available, CDG ...
Stephanie Grunewald
exaly +4 more sources
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG [PDF]
Scientific ReportsPhosphomannomutase-2 (PMM2) deficiency represents the most common congenital disorder of glycosylation (CDG). Currently, little is known about cell metabolic alterations occurring in these patients.
Renata Mangione +20 more
doaj +2 more sources
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) [PDF]
Orphanet Journal of Rare Diseases, 2017 Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS).
Natalia Lourdes Serrano +11 more
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Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG. [PDF]
J Inherit Metab DisABSTRACT Phosphomannomutase 2 congenital disorder of glycosylation (PMM2‐CDG) is a rare, autosomal recessive disease caused by PMM2 deficiency, which impairs conversion of mannose‐6‐phosphate into mannose‐1‐phosphate (M1P) and disrupts N‐linked glycosylation.
Serrano M +3 more
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Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway. [PDF]
J Inherit Metab DisABSTRACT Phosphomannomutase deficiency (PMM2‐CDG), the most common congenital disorder of glycosylation (CDG), is characterized by multisystem involvement and a lack of disease‐modifying therapies. While previous transcriptomic studies have uncovered disrupted cellular pathways, the functional consequences of these alterations remain poorly understood.
Gallego D +10 more
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Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human
Journal of Inherited Metabolic Disease, 2021 AbstractPhosphomannomutase 2 (PMM2) deficiency, the most frequent congenital disorder of glycosylation (PMM2‐CDG), is a severe condition, which has no cure. Due to the identification of destabilizing mutations, our group aims at increasing residual activity in PMM2‐CDG patients, searching for pharmacochaperones.
Alvaro Briso‐Montiano +6 more
openaire +3 more sources