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SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.
Marrone L, Marchi PM, Webster CP, Marroccella R, Coldicott I, Reynolds S, Alves-Cruzeiro J, Yang ZL, Higginbottom A, Khundadze M, Shaw PJ, Hübner CA, Livesey MR, Azzouz M. Marrone L, et al. Among authors: marchi pm. Hum Mol Genet. 2022 Aug 23;31(16):2693-2710. doi: 10.1093/hmg/ddac063. Hum Mol Genet. 2022. PMID: 35313342 Free PMC article.
SMN-deficient cells exhibit increased ribosomal DNA damage.
Karyka E, Berrueta Ramirez N, Webster CP, Marchi PM, Graves EJ, Godena VK, Marrone L, Bhargava A, Ray S, Ning K, Crane H, Hautbergue GM, El-Khamisy SF, Azzouz M. Karyka E, et al. Among authors: marchi pm. Life Sci Alliance. 2022 Apr 19;5(8):e202101145. doi: 10.26508/lsa.202101145. Print 2022 Aug. Life Sci Alliance. 2022. PMID: 35440492 Free PMC article.
C9ORF72-derived poly-GA DPRs undergo endocytic uptake in iAstrocytes and spread to motor neurons.
Marchi PM, Marrone L, Brasseur L, Coens A, Webster CP, Bousset L, Destro M, Smith EF, Walther CG, Alfred V, Marroccella R, Graves EJ, Robinson D, Shaw AC, Wan LM, Grierson AJ, Ebbens SJ, De Vos KJ, Hautbergue GM, Ferraiuolo L, Melki R, Azzouz M. Marchi PM, et al. Life Sci Alliance. 2022 May 13;5(9):e202101276. doi: 10.26508/lsa.202101276. Print 2022 Sep. Life Sci Alliance. 2022. PMID: 35568435 Free PMC article.
Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization.
Scarrott JM, Alves-Cruzeiro J, Marchi PM, Webster CP, Yang ZL, Karyka E, Marroccella R, Coldicott I, Thomas H, Azzouz M. Scarrott JM, et al. Among authors: marchi pm. Brain Commun. 2023 Jan 6;5(1):fcac335. doi: 10.1093/braincomms/fcac335. eCollection 2023. Brain Commun. 2023. PMID: 36632189 Free PMC article.