Results 31 to 40 of about 582 (102)

RhoGAP deletion

, 2008
It is important to understand the mechanism of endocytic invasion into the host cell by Staphylococcus aureus. Activation of phosphoinositide-3-kinase (PI3K) is essential to S. aureus invasion.
Haaning, Kelsey L.
core  

A Participatory Framework for Plain Language Clinical Management Guideline Development. [PDF]

Int J Environ Res Public Health, 2022
Francisco R, Alves S, Gomes C, Granjo P, Pascoal C, Brasil S, Neves A, Santos I, Miller A, Krasnewich D, Morava E, Lam C, Jaeken J, Videira PA, Dos Reis Ferreira V.   +14 more
europepmc   +1 more source

Regulation of calf thymus cytosolic 5'-nucleotidase/nucleoside phosphotransferase

, 1994
Many phosphatases with different specificity and cellular location have been described to be able to catalyze a phosphotransferase reaction1, 2 as well as several enzymes named phosphotransferases have been demonstrated to hydrolyze phosphoesters3, 4 ...
Ipata, P. L., Tozzi, M. G, Pesi, R, ALLEGRINI, Simone, Turriani, M, Baiocchi, C, Scolozzi, C, Camici, M   +7 more
core  

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

Characterization of the catalytic mechanisms of two aminoglycoside phosphotransferases: APH(3')-IIIa from Enterococcus faecalis and APH(9)-Ia from Legionella pneumophila

, 1999
While the aminoglycoside antibiotics continue to be useful chemotherapeutic agents, the appearance and dissemination of high level aminoglycoside resistant strains is a threat to the future clinical relevance of these antibiotics.
Thompson, Paul R.
core   +1 more source

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 Dis
Serrano M, Epifani F, Marino R, McWilliams P.   +3 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

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

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