GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
Por:
de la Morena-Barrio ME, Hernandez-Caselles T, Corral J, Garcia-Lopez, Roberto, Martinez-Martinez, Irene, Pérez-Dueñas B, Altisent, Carmen, Sevivas, Teresa, Kristensen, Soren R., Guillen-Navarro, Encarna, Minano, Antonia, Vicente, Vicente, Jaeken, Jaak and Lozano, Maria L.
Publicada:
20 oct 2013
Categoría:
Genetics (clinical)
Resumen:
Mutations in PMM2 impair phosphomannomutase-2 activity and cause the most frequent congenital disorder of glycosylation, PMM2-CDG. Mannose-1-phosphate, that is deficient in this disorder, is also implicated in the biosynthesis of glycosylphosphatidyl inositol (GPI) anchors.
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