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Repeat RNA Toxicity Drives Ribosomal RNA Processing Defects in SCA2
dc.contributor.authorSkariah, Geena
dc.contributor.authorAlbin, Roger Lee
dc.date.accessioned2021-12-02T02:30:21Z
dc.date.available2022-12-01 21:30:20en
dc.date.available2021-12-02T02:30:21Z
dc.date.issued2021-11
dc.identifier.citationSkariah, Geena; Albin, Roger Lee (2021). "Repeat RNA Toxicity Drives Ribosomal RNA Processing Defects in SCA2." Movement Disorders 36(11): 2464-2467.
dc.identifier.issn0885-3185
dc.identifier.issn1531-8257
dc.identifier.urihttps://hdl.handle.net/2027.42/171001
dc.publisherJohn Wiley & Sons, Inc.
dc.titleRepeat RNA Toxicity Drives Ribosomal RNA Processing Defects in SCA2
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/171001/1/mds28795_am.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/171001/2/mds28795.pdf
dc.identifier.doi10.1002/mds.28795
dc.identifier.sourceMovement Disorders
dc.identifier.citedreferenceKelmer Sacramento E, Kirkpatrick JM, Mazzetto M, et al. Reduced proteasome activity in the aging brain results in ribosome stoichiometry loss and aggregation. Mol Syst Biol 2020; 16: e9596.
dc.identifier.citedreferenceTsoi H, Chan HY. Roles of the nucleolus in the CAG RNA‐mediated toxicity. Biochim Biophys Acta 1842; 2014: 779 – 784.
dc.identifier.citedreferenceLee J, Hwang YJ, Ryu H, Kowall NW, Ryu H. Nucleolar dysfunction in Huntington’s disease. Biochim Biophys Acta 1842; 2014: 785 – 790.
dc.identifier.citedreferenceHetman M, Slomnicki LP. Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies. J Neurochem 2019; 148: 325 – 347.
dc.identifier.citedreferenceTavernarakis N. Ageing and the regulation of protein synthesis: a balancing act? Trends Cell Biol 2008; 18: 228 – 235.
dc.identifier.citedreferenceRattan SI. Synthesis, modifications, and turnover of proteins during aging. Exp Gerontol 1996; 31: 33 – 47.
dc.identifier.citedreferenceKapur M, Ackerman SL. mRNA translation gone awry: translation fidelity and neurological disease. Trends Genet 2018; 34: 218 – 231.
dc.identifier.citedreferenceCurran SP, Ruvkun G. Lifespan regulation by evolutionarily conserved genes essential for viability. PLoS Genet 2007; 3: e56.
dc.identifier.citedreferenceDavie K, Janssens J, Koldere D, et al. A single‐cell transcriptome atlas of the aging drosophila brain. Cell 2018; 174: 982 – 998.e920.
dc.identifier.citedreferenceXimerakis M, Lipnick SL, Innes BT, et al. Single‐cell transcriptomic profiling of the aging mouse brain. Nat Neurosci 2019; 22: 1696 – 1708.
dc.identifier.citedreferenceMüller‐Nedebock AC, van der Westhuizen FH, Kõks S, Bardien S. Nuclear genes associated with mitochondrial DNA processes as contributors to Parkinson’s disease risk. Mov Disord 2021; 36: 815 – 831.
dc.identifier.citedreferenceNorat P, Soldozy S, Sokolowski JD, et al. Mitochondrial dysfunction in neurological disorders: exploring mitochondrial transplantation. NPJ Regen Med 2020; 5: 22.
dc.identifier.citedreferenceDillman AA, Majounie E, Ding J, et al. Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging. Sci Rep 2017; 7: 16890.
dc.identifier.citedreferenceKapur M, Monaghan CE, Ackerman SL. Regulation of mRNA translation in neurons‐A matter of life and death. Neuron 2017; 96: 616 – 637.
dc.identifier.citedreferenceSkariah G, Todd PK. Translational control in aging and neurodegeneration. Wiley Interdiscip Rev RNA 2021; 12: e1628.
dc.identifier.citedreferencePulst S‐M, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996; 14: 269 – 276.
dc.identifier.citedreferenceImbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996; 14: 285 – 291.
dc.identifier.citedreferenceFilla A, De Michele G, Santoro L, et al. Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families. J Neurol 1999; 246: 467 – 471.
dc.identifier.citedreferenceVelázquez‐Pérez L, Rodríguez‐Labrada R, García‐Rodríguez JC, Almaguer‐Mederos LE, Cruz‐Mariño T, Laffita‐Mesa JM. A comprehensive review of spinocerebellar ataxia type 2 in Cuba. Cerebellum 2011; 10: 184 – 198.
dc.identifier.citedreferenceEstrada R, Galarraga J, Orozco G, Nodarse A, Auburger G. Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol 1999; 97: 306 – 310.
dc.identifier.citedreferenceSchöls L, Reimold M, Seidel K, et al. No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra. Brain 2015; 138: 3316 – 3326.
dc.identifier.citedreferenceLieberman AP, Shakkottai VG, Albin RL. Polyglutamine Repeats in Neurodegenerative Diseases. Annu Rev Pathol 2019; 14: 1 – 27.
dc.identifier.citedreferencevan Eyk CL, Richards RI. Dynamic mutations: where are they now? Adv Exp Med Biol 2012; 769: 55 – 77.
dc.identifier.citedreferenceLi PP, Moulick R, Feng H, et al. RNA toxicity and perturbation of rRNA processing in spinocerebellar ataxia type 2. Mov Disord 2021. DOI: 10.1002/mds.28729
dc.identifier.citedreferenceAntenora A, Rinaldi C, Roca A, et al. The multiple faces of spinocerebellar ataxia type 2. Ann Clin Transl Neurol 2017; 4: 687 – 695.
dc.identifier.citedreferenceElden AC, Kim H‐J, Hart MP, et al. Ataxin‐2 intermediate‐length polyglutamine expansions are associated with increased risk for ALS. Nature 2010; 466: 1069 – 1075.
dc.identifier.citedreferenceMagaña JJ, Velázquez‐Pérez L, Cisneros B. Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives. Mol Neurobiol 2013; 47: 90 – 104.
dc.identifier.citedreferenceMalik I, Kelley CP, Wang ET, Todd PK. Molecular mechanisms underlying nucleotide repeat expansion disorders. Nat Rev Mol Cell Biol 2021; 22: 644.
dc.identifier.citedreferenceJafar‐Nejad P, Ward CS, Richman R, Orr HT, Zoghbi HY. Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14‐3‐3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proc Natl Acad Sci U S A 2011; 108: 2142 – 2147.
dc.identifier.citedreferenceScoles DR, Ho MH, Dansithong W, et al. Repeat associated non‐aug translation (RAN translation) dependent on sequence downstream of the ATXN2 CAG repeat. PLoS One 2015; 10: e0128769.
dc.identifier.citedreferenceMiller JW, Urbinati CR, Teng‐Umnuay P, et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 2000; 19: 4439 – 4448.
dc.identifier.citedreferenceDragon F, Gallagher JE, Compagnone‐Post PA, et al. A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis. Nature 2002; 417: 967 – 970.
dc.working.doiNOen
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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