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Page 1
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C, Labauge P, Odent S, Ewenczyk C, Wolf C, Stevanin G, Hajage D, Durr A, Goizet C, Mochel F. Marelli C, et al. Among authors: lavie j. Brain. 2018 Jan 1;141(1):72-84. doi: 10.1093/brain/awx297. Brain. 2018. PMID: 29228183 Clinical Trial.
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G. Tesson C, et al. Among authors: lavie j. Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176821 Free PMC article.
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. Pilliod J, et al. Among authors: lavie j. Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14. Ann Neurol. 2015. PMID: 26288984
Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
Dai D, Mills PB, Footitt E, Gissen P, McClean P, Stahlschmidt J, Coupry I, Lavie J, Mochel F, Goizet C, Mizuochi T, Kimura A, Nittono H, Schwarz K, Crick PJ, Wang Y, Griffiths WJ, Clayton PT. Dai D, et al. Among authors: lavie j. J Inherit Metab Dis. 2014 Sep;37(5):851-61. doi: 10.1007/s10545-014-9695-6. J Inherit Metab Dis. 2014. PMID: 24658845
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Tingaud-Sequeira A, Raldúa D, Lavie J, Mathieu G, Bordier M, Knoll-Gellida A, Rambeau P, Coupry I, André M, Malm E, Möller C, Andreasson S, Rendtorff ND, Tranebjærg L, Koenig M, Lacombe D, Goizet C, Babin PJ. Tingaud-Sequeira A, et al. Among authors: lavie j. Neurobiol Dis. 2017 Feb;98:36-51. doi: 10.1016/j.nbd.2016.11.008. Epub 2016 Nov 23. Neurobiol Dis. 2017. PMID: 27890673
Neutrophil-derived mitochondrial DNA promotes receptor activator of nuclear factor κB and its ligand signalling in rheumatoid arthritis.
Contis A, Mitrovic S, Lavie J, Douchet I, Lazaro E, Truchetet ME, Goizet C, Contin-Bordes C, Schaeverbeke T, Blanco P, Rossignol R, Faustin B, Richez C, Duffau P. Contis A, et al. Among authors: lavie j. Rheumatology (Oxford). 2017 Jul 1;56(7):1200-1205. doi: 10.1093/rheumatology/kex041. Rheumatology (Oxford). 2017. PMID: 28340056
High glucose repatterns human podocyte energy metabolism during differentiation and diabetic nephropathy.
Imasawa T, Obre E, Bellance N, Lavie J, Imasawa T, Rigothier C, Delmas Y, Combe C, Lacombe D, Benard G, Claverol S, Bonneu M, Rossignol R. Imasawa T, et al. Among authors: lavie j. FASEB J. 2017 Jan;31(1):294-307. doi: 10.1096/fj.201600293R. Epub 2016 Oct 17. FASEB J. 2017. PMID: 27825100 Free PMC article.
These findings obtained in human samples demonstrate that MEF2C-MYF5-dependent bioenergetic dedifferentiation occurs in podocytes that are confronted with a high-glucose milieu.-Imasawa, T., Obre, E., Bellance, N., Lavie, J., Imasawa, T., Rigothier, C., Delmas, Y., …
These findings obtained in human samples demonstrate that MEF2C-MYF5-dependent bioenergetic dedifferentiation occurs in podocytes that are c …
39 results