GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

BACKGROUND: 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. OBJECTIVE: To...

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Autori principali: de la Morena-Barrio, Maria E, Hernández-Caselles, Trinidad, Corral, Javier, García-López, Roberto, Martínez-Martínez, Irene, Pérez-Dueñas, Belen, Altisent, Carmen, Sevivas, Teresa, Kristensen, Soren R, Guillén-Navarro, Encarna, Miñano, Antonia, Vicente, Vicente, Jaeken, Jaak, Lozano, Maria L
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2013
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4016514/
https://ncbi.nlm.nih.gov/pubmed/24139637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-170
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