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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R. Mansour-Hendili L, et al. Among authors: devuyst o. Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11. Hum Mutat. 2015. PMID: 25907713 Review.
Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL.
De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, Di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA. De Leo MG, et al. Among authors: devuyst o. Nat Cell Biol. 2016 Aug;18(8):839-850. doi: 10.1038/ncb3386. Epub 2016 Jul 11. Nat Cell Biol. 2016. PMID: 27398910 Free PMC article.
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.
De Matteis MA, Staiano L, Emma F, Devuyst O. De Matteis MA, et al. Among authors: devuyst o. Nat Rev Nephrol. 2017 Aug;13(8):455-470. doi: 10.1038/nrneph.2017.83. Epub 2017 Jul 3. Nat Rev Nephrol. 2017. PMID: 28669993 Review.
458 results