[Panorama on congenital disorders of glycosylation (CDG): from 1980 to 2020].
Anomalies congénitales de la glycosylation (CDG) - 1980-2020, 40 ans pour comprendre.
Journal
Medecine sciences : M/S
ISSN: 1958-5381
Titre abrégé: Med Sci (Paris)
Pays: France
ID NLM: 8710980
Informations de publication
Date de publication:
Historique:
entrez:
22
8
2020
pubmed:
22
8
2020
medline:
10
10
2020
Statut:
ppublish
Résumé
Glycosylation is an essential and complex cellular process where monosaccharides are added one by one onto an acceptor molecule, most of the time a protein or a lipid, so called glycoprotein or glycolipid. This cellular process is found in every living organism and is tightly conserved during evolution. In human, if one of the glycosylation reactions is genetically impaired, Congenital Disorders of Glycosylation (CDG) appear. CDG are a growing family of more than a hundred genetic diseases. This review offers a panorama of CDGs from 1980 to the present, their discoveries, diagnoses and treatments. Anomalies congénitales de la glycosylation (CDG) - 1980-2020, 40 ans pour comprendre. La glycosylation est un processus cellulaire complexe conduisant à des transferts successifs de monosaccharides sur une molécule acceptrice, le plus souvent une protéine ou un lipide. Ce processus est universel chez tous les organismes vivants et est très conservé au cours de l’évolution. Chez l’homme, des perturbations survenant au cours d’une ou plusieurs réactions de glycosylation sont à l’origine de glycopathologies génétiques rares, appelées anomalies congénitales de la glycosylation ou congenital disorders of glycosylation (CDG). Cette revue propose de revisiter ces CDG, de 1980 à aujourd’hui, en présentant leurs découvertes, leurs diagnostics, leurs causes biochimiques et les traitements actuellement disponibles.
Autres résumés
Type: Publisher
(fre)
Anomalies congénitales de la glycosylation (CDG) - 1980-2020, 40 ans pour comprendre.
Identifiants
pubmed: 32821050
doi: 10.1051/medsci/2020128
pii: msc200090
doi:
Types de publication
Historical Article
Journal Article
Review
Langues
fre
Sous-ensembles de citation
IM
Pagination
735-746Subventions
Organisme : Centre National de la Recherche Scientifique
Organisme : Agence Nationale de la Recherche
ID : SOLV-CDG
Informations de copyright
© 2020 médecine/sciences – Inserm.
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