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Page 1
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: courchet j. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
The AMPK-related kinase NUAK1 controls cortical axons branching by locally modulating mitochondrial metabolic functions.
Lanfranchi M, Yandiev S, Meyer-Dilhet G, Ellouze S, Kerkhofs M, Dos Reis R, Garcia A, Blondet C, Amar A, Kneppers A, Polvèche H, Plassard D, Foretz M, Viollet B, Sakamoto K, Mounier R, Bourgeois CF, Raineteau O, Goillot E, Courchet J. Lanfranchi M, et al. Among authors: courchet j. Nat Commun. 2024 Mar 21;15(1):2487. doi: 10.1038/s41467-024-46146-6. Nat Commun. 2024. PMID: 38514619 Free PMC article.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G. Gokce-Samar Z, et al. Among authors: courchet j. Neurology. 2024 Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. Neurology. 2024. PMID: 38165337
16p11.2 haploinsufficiency reduces mitochondrial biogenesis in brain endothelial cells and alters brain metabolism in adult mice.
Béland-Millar A, Kirby A, Truong Y, Ouellette J, Yandiev S, Bouyakdan K, Pileggi C, Naz S, Yin M, Carrier M, Kotchetkov P, St-Pierre MK, Tremblay MÈ, Courchet J, Harper ME, Alquier T, Messier C, Shuhendler AJ, Lacoste B. Béland-Millar A, et al. Among authors: courchet j. Cell Rep. 2023 May 30;42(5):112485. doi: 10.1016/j.celrep.2023.112485. Epub 2023 May 6. Cell Rep. 2023. PMID: 37149866 Free article.
Deciphering the Role of Klf10 in the Cerebellum.
Kammoun M, Nadal-Desbarats L, Même S, Lafoux A, Huchet C, Meyer-Dilhet G, Courchet J, Montigny F, Szeremeta F, Même W, Veksler V, Piquereau J, Pouletaut P, Subramaniam M, Hawse JR, Constans JM, Bensamoun SF. Kammoun M, et al. Among authors: courchet j. J Biomed Sci Eng. 2022 May;15(5):140-156. doi: 10.4236/jbise.2022.155014. Epub 2022 May 30. J Biomed Sci Eng. 2022. PMID: 36507464 Free PMC article.
ERRα coordinates actin and focal adhesion dynamics.
Tribollet V, Cerutti C, Géloën A, Berger E, De Mets R, Balland M, Courchet J, Vanacker JM, Forcet C. Tribollet V, et al. Among authors: courchet j. Cancer Gene Ther. 2022 Oct;29(10):1429-1438. doi: 10.1038/s41417-022-00461-6. Epub 2022 Apr 4. Cancer Gene Ther. 2022. PMID: 35379907
MACF1 controls skeletal muscle function through the microtubule-dependent localization of extra-synaptic myonuclei and mitochondria biogenesis.
Ghasemizadeh A, Christin E, Guiraud A, Couturier N, Abitbol M, Risson V, Girard E, Jagla C, Soler C, Laddada L, Sanchez C, Jaque-Fernandez FI, Jacquemond V, Thomas JL, Lanfranchi M, Courchet J, Gondin J, Schaeffer L, Gache V. Ghasemizadeh A, et al. Among authors: courchet j. Elife. 2021 Aug 27;10:e70490. doi: 10.7554/eLife.70490. Elife. 2021. PMID: 34448452 Free PMC article.
Axon morphogenesis and maintenance require an evolutionary conserved safeguard function of Wnk kinases antagonizing Sarm and Axed.
Izadifar A, Courchet J, Virga DM, Verreet T, Hamilton S, Ayaz D, Misbaer A, Vandenbogaerde S, Monteiro L, Petrovic M, Sachse S, Yan B, Erfurth ML, Dascenco D, Kise Y, Yan J, Edwards-Faret G, Lewis T, Polleux F, Schmucker D. Izadifar A, et al. Among authors: courchet j. Neuron. 2021 Sep 15;109(18):2864-2883.e8. doi: 10.1016/j.neuron.2021.07.006. Epub 2021 Aug 11. Neuron. 2021. PMID: 34384519 Free article.
39 results