COG5-CDG: expanding the clinical spectrum (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• COG5-CDG: expanding the clinical spectrum (Articolo in rivista) (literal)

Anno

• 2012-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1186/1750-1172-7-94 (literal)

Alternative label

• D.Rymen, L.Keldermans, V.Race, L.Régal, N.Deconinck, C.Dionisi-Vici, C.Fung, L.Sturiale, C.Rosnoblet, F.Foulquier, G.Matthijs, J.Jaeken (2012)
  COG5-CDG: expanding the clinical spectrum
  in Orphanet journal of rare diseases
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• D.Rymen, L.Keldermans, V.Race, L.Régal, N.Deconinck, C.Dionisi-Vici, C.Fung, L.Sturiale, C.Rosnoblet, F.Foulquier, G.Matthijs, J.Jaeken (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 7 (literal)

Rivista

• Orphanet journal of rare diseases (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 94 (literal)

Note

• PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Centre for Human Genetics, University of Leuven, Leuven, Belgium Centre for Metabolic Diseases, University Hospital Gasthuisberg, Herestraat 49, BE -3000 Leuven, Belgium University Children's Hospital Queen Fabiola, Brussels, Belgium Division of Metabolism, Bambino Gesù Hospital, Rome, Italy Duchess of Kent Children's Hospital, University of Hong Kong, Pokfulam, Hong Kong Institute of Chemistry and Technology of Polymers, Catania, Sicily Structural and Functional Glycobiology Unit, University of Lille 1, Lille 1, France (literal)

Titolo

• COG5-CDG: expanding the clinical spectrum (literal)

Abstract

• Background The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of a COG-subunit leads to defective protein glycosylation, and thus Congenital Disorders of Glycosylation (CDG). Mutations in subunits 1, 4, 5, 6, 7 and 8 have been associated with CDG-II. The first patient with COG5-CDG was recently described (Paesold-Burdaet al. Hum Mol Genet 2009; 18:4350-6). Contrary to most other COG-CDG cases, the patient presented a mild/moderate phenotype, i.e. moderate psychomotor retardation with language delay, truncal ataxia and slight hypotonia. Methods CDG-IIx patients from our database were screened for mutations in COG5. Clinical data were compared. Brefeldin A treatment of fibroblasts and immunoblotting experiments were performed to support the diagnosis. Results and conclusion We identified five new patients with proven COG5 deficiency. We conclude that the clinical picture is not always as mild as previously described. It rather comprises a broad spectrum with phenotypes ranging from mild to very severe. Interestingly, on a clinical basis some of the patients present a significant overlap with COG7-CDG, a finding which can probably be explained by subunit interactions at the protein level (literal)

Prodotto di

• Glicomica e Proteomica per la ricerca di biomarcatori per la diagnosi e la terapia di patologie congenite, tumorali e infiammatorie. (PM.P06.013.001) (Modulo)
• Istituto di chimica e tecnologia dei polimeri (ICTP) (Istituto)

Autore CNR

• LUISELLA STURIALE (Persona)

Insieme di parole chiave

• Parole chiave di "COG5-CDG: expanding the clinical spectrum" (Insieme di parole chiave)

Incoming links:

Prodotto

• Istituto di chimica e tecnologia dei polimeri (ICTP) (Istituto)
• Glicomica e Proteomica per la ricerca di biomarcatori per la diagnosi e la terapia di patologie congenite, tumorali e infiammatorie. (PM.P06.013.001) (Modulo)

Autore CNR di

• LUISELLA STURIALE (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Orphanet journal of rare diseases (Rivista)

Insieme di parole chiave di

• Parole chiave di "COG5-CDG: expanding the clinical spectrum" (Insieme di parole chiave)