Below are the most recent publications written about "Trinucleotide Repeat Expansion" by people in Profiles.
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Brown RE, Coxon M, Larsen B, Allison M, Chadha A, Mittelstadt I, Mertz TM, Roberts SA, Freudenreich CH. APOBEC3A deaminates CTG hairpin loops to promote fragility and instability of expanded CAG/CTG repeats. Proc Natl Acad Sci U S A. 2025 Jan 14; 122(2):e2408179122.
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Phadte AS, Bhatia M, Ebert H, Abdullah H, Elrazaq EA, Komolov KE, Pluciennik A. FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism. Proc Natl Acad Sci U S A. 2023 08 15; 120(33):e2302103120.
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Arnold FJ, Merry DE. Molecular Mechanisms and Therapeutics for SBMA/Kennedy's Disease. Neurotherapeutics. 2019 10; 16(4):928-947.
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LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA, Mefford HC, Sol-Church K. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. Am J Hum Genet. 2019 01 03; 104(1):35-44.
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Lumaka A, Race V, Peeters H, Corveleyn A, Coban-Akdemir Z, Jhangiani SN, Song X, Mubungu G, Posey J, Lupski JR, Vermeesch JR, Lukusa P, Devriendt K. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 09; 176(9):1897-1909.
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Rusmini P, Crippa V, Cristofani R, Rinaldi C, Cicardi ME, Galbiati M, Carra S, Malik B, Greensmith L, Poletti A. The Role of the Protein Quality Control System in SBMA. J Mol Neurosci. 2016 Mar; 58(3):348-64.
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Merry DE. Attacking the flank: targeting new pathways in SBMA. Nat Med. 2012 Oct; 18(10):1461-3.
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Xiao H, Yu Z, Wu Y, Nan J, Merry DE, Sekiguchi JM, Ferguson DO, Lieberman AP, Dressler GR. A polyglutamine expansion disease protein sequesters PTIP to attenuate DNA repair and increase genomic instability. Hum Mol Genet. 2012 Oct 01; 21(19):4225-36.
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Montie HL, Pestell RG, Merry DE. SIRT1 modulates aggregation and toxicity through deacetylation of the androgen receptor in cell models of SBMA. J Neurosci. 2011 Nov 30; 31(48):17425-36.
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Yu Z, Zhu Y, Chen-Plotkin AS, Clay-Falcone D, McCluskey L, Elman L, Kalb RG, Trojanowski JQ, Lee VM, Van Deerlin VM, Gitler AD, Bonini NM. PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. PLoS One. 2011 Mar 29; 6(3):e17951.