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Year | Number of Results |
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2014 | 1 |
2017 | 1 |
2023 | 1 |
2024 | 0 |
PubMed (GeneRIF) for id: 214585
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Spatacsin regulates directionality of lysosome trafficking by promoting the degradation of its partner AP5Z1.
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.
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.
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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Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.
Pérez-Brangulí F, Mishra HK, Prots I, Havlicek S, Kohl Z, Saul D, Rummel C, Dorca-Arevalo J, Regensburger M, Graef D, Sock E, Blasi J, Groemer TW, Schlötzer-Schrehardt U, Winkler J, Winner B.
Pérez-Brangulí F, et al.
Hum Mol Genet. 2014 Sep 15;23(18):4859-74. doi: 10.1093/hmg/ddu200. Epub 2014 May 2.
Hum Mol Genet. 2014.
PMID: 24794856
Free PMC article.
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