id,collection,Type de document,DOI,PMID,URL,Titre,Auteur(s),Titre de la revue,Nom court de la revue,Numéro,Pagination,Éditeur,Date de publication,ISSN,Mot(s)-clé(s) en anglais,Discipline(s) HAL,Résumé en anglais,Langue,Article revu par les pairs,Audience,Vulgarisation,Équipe(s) de recherche,Collection
"e1f7c6f6-e92e-457c-af67-8bca2f2dc8cd","20.500.12210/33","Article dans une revue scientifique","10.1038/s41467-018-08044-6","30631079","http://hdl.handle.net/20.500.12210/33725","GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation","Witkos, Tomasz M||Chan, Wing Lee||Joensuu, Merja||Rhiel, Manuel||Pallister, Ed||Thomas-Oates, Jane||Mould, A Paul||Mironov, Alex A||Biot, Christophe||Guerardel, Yann||Morelle, Willy||Ungar, Daniel||Wieland, Felix T||Jokitalo, Eija||Tassabehji, May||Kornak, Uwe||Lowe, Martin","Nature Communications","Nat Commun","10;","127",,"2019-01-10","2041-1723","Bone Diseases||Carrier Proteins||Cells||Cultured||Coat Protein Complex I||Dwarfism||Enzymes||Glycosylation||Golgi Apparatus||Golgi Matrix Proteins||HEK293 Cells||HeLa Cells||Humans||Mutation||Protein Binding||Protein Transport||RNA Interference||Skin Diseases||Genetic||Transcription Factors","Sciences du Vivant [q-bio]/Biochimie, Biologie Moléculaire/Biologie structurale [q-bio.BM]","COPI is a key mediator of protein trafficking within the secretory pathway. COPI is recruited to the membrane primarily through binding to Arf GTPases, upon which it undergoes assembly to form coated transport intermediates responsible for trafficking numerous proteins, including Golgi-resident enzymes. Here, we identify GORAB, the protein mutated in the skin and bone disorder gerodermia osteodysplastica, as a component of the COPI machinery. GORAB forms stable domains at the trans-Golgi that, via interactions with the COPI-binding protein Scyl1, promote COPI recruitment to these domains. Pathogenic GORAB mutations perturb Scyl1 binding or GORAB assembly into domains, indicating the importance of these interactions. Loss of GORAB causes impairment of COPI-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. Our results therefore identify GORAB as a COPI scaffolding factor, and support the view that defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica.",,,"Non spécifiée",,,"Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576"
"947b3907-f0a5-477c-b1a1-009cbc005e77","20.500.12210/33","Article dans une revue scientifique","10.1038/s41467-018-08044-6",,"http://hdl.handle.net/20.500.12210/18758","GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation. Nature Communications","Witkos, Tomasz M.||Chan, Wing Lee||Joensuu, Merja||Rhiel, Manuel||Pallister, Ed||Thomas-Oates, Jane||Mould, A. Paul||Mironov, Alex A.||Biot, Christophe||Guerardel, Yann||Morelle, Willy||Ungar, Daniel||Wieland, Felix T.||Jokitalo, Eija||Tassabehji, May||Kornak, Uwe||Lowe, Martin","Nature Communications","Nat Commun","10;",,"Nature Publishing Group","2019-01-10","2041-1723","Glycobiology||Golgi||Mechanisms of disease","Chimie/Chimie théorique et/ou physique","COPI is a key mediator of protein trafficking within the secretory pathway. COPI is recruited to the membrane primarily through binding to Arf GTPases, upon which it undergoes assembly to form coated transport intermediates responsible for trafficking numerous proteins, including Golgi-resident enzymes. Here, we identify GORAB, the protein mutated in the skin and bone disorder gerodermia osteodysplastica, as a component of the COPI machinery. GORAB forms stable domains at the trans-Golgi that, via interactions with the COPI-binding protein Scyl1, promote COPI recruitment to these domains. Pathogenic GORAB mutations perturb Scyl1 binding or GORAB assembly into domains, indicating the importance of these interactions. Loss of GORAB causes impairment of COPI-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins. Our results therefore identify GORAB as a COPI scaffolding factor, and support the view that defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica.","Anglais","Oui","Internationale","Non","Mécanismes moléculaires de la N-glycosylation et pathologies associées||Chemical Glycobiology","Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576"
