TY - JOUR
T1 - GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
AU - de la Morena-Barrio, Maria E
AU - Hernández-Caselles, Trinidad
AU - Corral, Javier
AU - García-López, Roberto
AU - Martínez-Martínez, Irene
AU - Pérez-Dueñas, Belen
AU - Altisent, Carmen
AU - Sevivas, Teresa
AU - Kristensen, Soren R
AU - Guillén-Navarro, Encarna
AU - Miñano, Antonia
AU - Vicente, Vicente
AU - Jaeken, Jaak
AU - Lozano, Maria L
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
U2 - 10.1186/1750-1172-8-170
DO - 10.1186/1750-1172-8-170
M3 - Journal article
C2 - 24139637
SN - 1750-1172
VL - 8
SP - 170
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
ER -