4 documents found, page 1 of 1
Galactose Epimerase Deficiency: Expanding the Phenotype
Dias Costa, F.; Ferdinandusse, S.; Pinto, C.; Dias, A.; Keldermans, L.; Quelhas, D.; Matthijs, G.; Mooijer, P.; Diogo, L.; Jaeken, J.; Garcia, P.Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a dysmorphic syndrome. Failure to thrive was noticed during the first year. Episodes of heart failure due to dilated cardi...
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagi...
Rujano, M.; Cannata Serio, M.; Panasyuk, G.; Péanne, R.; Reunert, J.; Rymen, D.; Hauser, V.; Park, J.; Freisinger, P.; Souche, E.; Guida, M.; Maier, E.The biogenesis of the multi-subunit vacuolar-type H+-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the accessory V-ATPase subunit ATP6AP2 (also known as the [pro]renin receptor) responsible for a glycosylation disorder with ...
MAN1B1 Deficiency: An Unexpected CDG-II
Rymen, D.; Peanne, R.; Millón, M.; Race, V.; Sturiale, L.; Garozzo, D.; Mills, P.; Clayton, P.; Asteggiano, C.; Quelhas, D.; Cansu, A.; Martins, E.Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDG-II patient. Subsequently, 6 additional cases with MAN1B1-CDG were found. All individuals presented slight facial dysmorphism, psychomotor retardation and truncal obesity. Gene...
Stability studies of a recombinant cutinase immobilized to dextran and derivati...
Gonçalves, A. M.; Schacht, E.; Matthijs, G.; Barros, M. R. Aires; Cabral, J. M. S.; Gil, M. H.Recombinant cutinase from Fusarium solani pisi was covalently attached to dextran and two derivatized silica supports, Biosil-NH2 and Biosil-Dextran-NH2. Kinetic parameters were determined for all three systems as well as for soluble cutinase. Long-term stability in aqueous media was studied; dextran may have a stabilizing role not only due to the covalent links involved but also in the same way as other polyhy...