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Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F. Esteves T, et al. Among authors: boutry m. Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2. Am J Hum Genet. 2014. PMID: 24388663 Free PMC article.
Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.
Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, Vallucci M, Esteves T, Matusiak R, Dumont M, Muriel MP, Santorelli FM, Brice A, El Hachimi KH, Stevanin G, Darios F. Branchu J, et al. Among authors: boutry m. Neurobiol Dis. 2017 Jun;102:21-37. doi: 10.1016/j.nbd.2017.02.007. Epub 2017 Feb 22. Neurobiol Dis. 2017. PMID: 28237315 Free PMC article.
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration.
Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El Hachimi KH, Stevanin G, Darios F. Boutry M, et al. Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098. Cell Rep. 2018. PMID: 29949766 Free PMC article.
Update on the Genetics of Spastic Paraplegias.
Boutry M, Morais S, Stevanin G. Boutry M, et al. Curr Neurol Neurosci Rep. 2019 Feb 28;19(4):18. doi: 10.1007/s11910-019-0930-2. Curr Neurol Neurosci Rep. 2019. PMID: 30820684 Free article. Review.
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis.
Boutry M, Pierga A, Matusiak R, Branchu J, Houllegatte M, Ibrahim Y, Balse E, El Hachimi KH, Brice A, Stevanin G, Darios F. Boutry M, et al. Commun Biol. 2019 Oct 17;2:380. doi: 10.1038/s42003-019-0615-z. eCollection 2019. Commun Biol. 2019. PMID: 31637311 Free PMC article.
168 results