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ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS.
López-Erauskin J, Tadokoro T, Baughn MW, Myers B, McAlonis-Downes M, Chillon-Marinas C, Asiaban JN, Artates J, Bui AT, Vetto AP, Lee SK, Le AV, Sun Y, Jambeau M, Boubaker J, Swing D, Qiu J, Hicks GG, Ouyang Z, Fu XD, Tessarollo L, Ling SC, Parone PA, Shaw CE, Marsala M, Lagier-Tourenne C, Cleveland DW, Da Cruz S. López-Erauskin J, et al. Among authors: lee sk. Neuron. 2018 Nov 21;100(4):816-830.e7. doi: 10.1016/j.neuron.2018.09.044. Epub 2018 Oct 18. Neuron. 2018. PMID: 30344044 Free PMC article.
Enhancing mitochondrial calcium buffering capacity reduces aggregation of misfolded SOD1 and motor neuron cell death without extending survival in mouse models of inherited amyotrophic lateral sclerosis.
Parone PA, Da Cruz S, Han JS, McAlonis-Downes M, Vetto AP, Lee SK, Tseng E, Cleveland DW. Parone PA, et al. Among authors: lee sk. J Neurosci. 2013 Mar 13;33(11):4657-71. doi: 10.1523/JNEUROSCI.1119-12.2013. J Neurosci. 2013. PMID: 23486940 Free PMC article.
Misfolded SOD1 is not a primary component of sporadic ALS.
Da Cruz S, Bui A, Saberi S, Lee SK, Stauffer J, McAlonis-Downes M, Schulte D, Pizzo DP, Parone PA, Cleveland DW, Ravits J. Da Cruz S, et al. Among authors: lee sk. Acta Neuropathol. 2017 Jul;134(1):97-111. doi: 10.1007/s00401-017-1688-8. Epub 2017 Feb 28. Acta Neuropathol. 2017. PMID: 28247063 Free PMC article.
Elevated PGC-1α activity sustains mitochondrial biogenesis and muscle function without extending survival in a mouse model of inherited ALS.
Da Cruz S, Parone PA, Lopes VS, Lillo C, McAlonis-Downes M, Lee SK, Vetto AP, Petrosyan S, Marsala M, Murphy AN, Williams DS, Spiegelman BM, Cleveland DW. Da Cruz S, et al. Among authors: lee sk. Cell Metab. 2012 May 2;15(5):778-86. doi: 10.1016/j.cmet.2012.03.019. Cell Metab. 2012. PMID: 22560226 Free PMC article.
ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS.
López-Erauskin J, Tadokoro T, Baughn MW, Myers B, McAlonis-Downes M, Chillon-Marinas C, Asiaban JN, Artates J, Bui AT, Vetto AP, Lee SK, Le AV, Sun Y, Jambeau M, Boubaker J, Swing D, Qiu J, Hicks GG, Ouyang Z, Fu XD, Tessarollo L, Ling SC, Parone PA, Shaw CE, Marsala M, Lagier-Tourenne C, Cleveland DW, Da Cruz S. López-Erauskin J, et al. Among authors: lee sk. Neuron. 2020 Apr 22;106(2):354. doi: 10.1016/j.neuron.2020.04.006. Neuron. 2020. PMID: 32325059 Free PMC article. No abstract available.
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.
Lee S, Yoon JG, Hong J, Kim T, Kim N, Vandrovcova J, Yau WY, Cho J, Kim S, Kim MJ, Kim SY, Lee ST, Chu K, Lee SK, Kim HJ, Choi J, Moon J, Chae JH. Lee S, et al. Among authors: lee sk. Neurol Genet. 2024 May 20;10(3):e200147. doi: 10.1212/NXG.0000000000200147. eCollection 2024 Jun. Neurol Genet. 2024. PMID: 38779172 Free PMC article.
7,070 results