Cohen syndrome is associated with major glycosylation defects

Cohen syndrome (CS) is a rare autosomal recessive disorder with multisytemic clinical features due to mutations in the VPS13B gene, which has recently been described encoding a mandatory membrane protein involved in Golgi integrity. As the Golgi complex is the place where glycosylation of newly synt...

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Veröffentlicht in:	Human molecular genetics 2014-05, Vol.23 (9), p.2391-2399
Hauptverfasser:	Duplomb, Laurence, Duvet, Sandrine, Picot, Damien, Jego, Gaëtan, El Chehadeh-Djebbar, Salima, Marle, Nathalie, Gigot, Nadège, Aral, Bernard, Carmignac, Virginie, Thevenon, Julien, Lopez, Estelle, Rivière, Jean-Baptiste, Klein, André, Philippe, Christophe, Droin, Nathalie, Blair, Edward, Girodon, François, Donadieu, Jean, Bellanné-Chantelot, Christine, Delva, Laurent, Michalski, Jean-Claude, Solary, Eric, Faivre, Laurence, Foulquier, François, Thauvin-Robinet, Christel
Format:	Artikel
Sprache:	eng
Schlagworte:	Antigens, CD - metabolism Cell Adhesion Molecules - metabolism Developmental Disabilities - metabolism Electrophoresis, Polyacrylamide Gel Fibroblasts - metabolism Fingers - abnormalities Glycosylation Golgi Apparatus - metabolism Humans Intellectual Disability - metabolism Intercellular Adhesion Molecule-1 - metabolism Life Sciences Microcephaly - metabolism Muscle Hypotonia - metabolism Myopia - metabolism Obesity - metabolism RNA Interference Transferrin - metabolism Vesicular Transport Proteins - metabolism
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