Glycomic characterization of induced pluripotent stem cells derived from a patient suffering from phosphomannomutase 2 congenital disorder of glycosylation (PMM2 …
CT Thiesler, S Cajic, D Hoffmann, C Thiel… - Molecular & Cellular …, 2016 - ASBMB
PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused
by mutations in the gene encoding phosphomannomutase 2 (PMM2). This disease is the
most frequent form of inherited CDG-diseases affecting protein N-glycosylation in human.
PMM2-CDG is a multisystemic disease with severe psychomotor and mental retardation. In
order to study the pathophysiology of PMM2-CDG in a human cell culture model, we
generated induced pluripotent stem cells (iPSCs) from fibroblasts of a PMM2-CDG-patient …
by mutations in the gene encoding phosphomannomutase 2 (PMM2). This disease is the
most frequent form of inherited CDG-diseases affecting protein N-glycosylation in human.
PMM2-CDG is a multisystemic disease with severe psychomotor and mental retardation. In
order to study the pathophysiology of PMM2-CDG in a human cell culture model, we
generated induced pluripotent stem cells (iPSCs) from fibroblasts of a PMM2-CDG-patient …
