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Page 1
TWEAK Negatively Regulates Human Dicer.
Noncoding RNA. 2016 Oct 25;2(4):12. doi: 10.3390/ncrna2040012.
Noncoding RNA. 2016.
PMID: 29657270
Free PMC article.
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. Among authors: matusiak r.
Commun Biol. 2019 Oct 17;2:380. doi: 10.1038/s42003-019-0615-z. eCollection 2019.
Commun Biol. 2019.
PMID: 31637311
Free PMC article.
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Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1.
Pierga A, Matusiak R, Cauhapé M, Branchu J, Danglot L, Boutry M, Darios F.
Pierga A, et al. Among authors: matusiak r.
PLoS Biol. 2023 Oct 23;21(10):e3002337. doi: 10.1371/journal.pbio.3002337. eCollection 2023 Oct.
PLoS Biol. 2023.
PMID: 37871017
Free PMC article.
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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. Among authors: matusiak r.
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.
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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G.
Coutelier M, et al. Among authors: matusiak r.
Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29.
Brain. 2015.
PMID: 26026163
Free PMC article.
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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: matusiak r.
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.
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