Results 11 to 20 of about 211 (74)

A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif.

, 1998
When incubated with their substrates, human phosphomannomutase and L-3-phosphoserine phosphatase are known to form phosphoenzymes with chemical characteristics of an acyl-phosphate. The phosphorylated residue in phosphomannomutase has now been identified
Delpierre, Ghislain, Collet, Jean-François, Pirard, M., Stroobant, Vincent, Van Schaftingen, Emile   +4 more
core   +1 more source

Substrate specificity and conformational activation mechanism of beta-phosphoglucomutase [PDF]

, 2016
Phosphate transfer is ubiquitous in nature, however the occurance of phosphomutases is rare. Their uniqueness can be attributed to the complex and malleable substrate recognition scheme that allows the enzyme to perform two similar, yet distinct ...
Saltzberg, Daniel John
core  

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? [PDF]

Mol Genet Metab, 2021
Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K.   +17 more
europepmc   +1 more source

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). [PDF]

Mol Genet Genomic Med, 2021
Islam S, Tekman M, Flanagan SE, Guay-Woodford L, Hussain K, Hussain K, Ellard S, Kleta R, Bockenhauer D, Stanescu H, Iancu D.   +10 more
europepmc   +1 more source

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial. [PDF]

Orphanet J Rare Dis, 2021
Witters P, Andersson H, Jaeken J, Tseng L, van Karnebeek CDM, Lefeber DJ, Cassiman D, Morava E.   +7 more
europepmc   +1 more source

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study. [PDF]

Sci Rep, 2023
Epifani F, Pujol Serra SM, Llorens M, Balcells S, Nolasco G, Bolasell M, Aguilera-Albesa S, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R, Serrano M.   +16 more
europepmc   +1 more source

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation. [PDF]

Mol Genet Metab, 2023
De Graef D, Ligezka AN, Rezents J, Mazza GL, Preston G, Schwartz K, Krzysciak W, Lam C, Edmondson AC, Johnsen C, Kozicz T, Morava E.   +11 more
europepmc   +1 more source

Genotype-Phenotype Correlations in PMM2-CDG. [PDF]

Genes (Basel), 2021
Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P.   +7 more
europepmc   +1 more source

Lipo-Glc-1,6-P₂: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation. [PDF]

IUBMB Life
Sodano F, Monticelli M, Hay Mele B, Rolando B, Lazzarato L, De Simone A, Andrisano V, Paris D, Rimoli MG, Cubellis MV, Andreotti G.   +10 more
europepmc   +1 more source

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study. [PDF]

Orphanet J Rare Dis, 2021
Witters P, Edmondson AC, Lam C, Johnsen C, Patterson MC, Raymond KM, He M, Freeze HH, Morava E.   +8 more
europepmc   +1 more source