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Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization.
Romano LEL, Aw WY, Hixson KM, Novoselova TV, Havener TM, Howell S, Taylor-Blake B, Hall CL, Xing L, Beri J, Nethisinghe S, Perna L, Hatimy A, Altadonna GC, Graves LM, Herring LE, Hickey AJ, Thalassinos K, Chapple JP, Wolter JM. Romano LEL, et al. Cell Rep. 2022 Nov 1;41(5):111580. doi: 10.1016/j.celrep.2022.111580. Cell Rep. 2022. PMID: 36323248 Free PMC article.
Oncometabolite induced primary cilia loss in pheochromocytoma.
O'Toole SM, Watson DS, Novoselova TV, Romano LEL, King PJ, Bradshaw TY, Thompson CL, Knight MM, Sharp TV, Barnes MR, Srirangalingam U, Drake WM, Chapple JP. O'Toole SM, et al. Among authors: romano lel. Endocr Relat Cancer. 2019 Jan 1;26(1):165-180. doi: 10.1530/ERC-18-0134. Endocr Relat Cancer. 2019. PMID: 30345732 Free PMC article.
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Chapple JP. Duncan EJ, et al. Among authors: romano lel. Hum Mol Genet. 2017 Aug 15;26(16):3130-3143. doi: 10.1093/hmg/ddx197. Hum Mol Genet. 2017. PMID: 28535259 Free PMC article.