2 documents found, page 1 of 1
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...