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 e...
Ausführliche Beschreibung

Gespeichert in:
Autor*in:

de la Morena-Barrio, Maria E [verfasserIn]

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

Format:

E-Artikel

Sprache:

Englisch

Erschienen:

2013

Schlagwörter:

PMM2-CDG

-glycosylation defects

GPI-anchor and GPI-anchored proteins

Anmerkung:

© de la Morena-Barrio et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (

Übergeordnetes Werk:

Enthalten in: Orphanet journal of rare diseases - London : BioMed Central, 2006, 8(2013), 1 vom: 20. Okt.

Übergeordnetes Werk:

volume:8 ; year:2013 ; number:1 ; day:20 ; month:10

Links:

Volltext

DOI / URN:

10.1186/1750-1172-8-170

Katalog-ID:

SPR029488281

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