Below are the most recent publications written about "Spinocerebellar Ataxias" by people in Profiles.
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Lee WS, Al-Ramahi I, Jeong HH, Jang Y, Lin T, Adamski CJ, Lavery LA, Rath S, Richman R, Bondar VV, Alcala E, Revelli JP, Orr HT, Liu Z, Botas J, Zoghbi HY. Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1. J Clin Invest. 2022 May 02; 132(9).
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Orengo JP, Nitschke L, van der Heijden ME, Ciaburri NA, Orr HT, Zoghbi HY. Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model. JCI Insight. 2022 Apr 22; 7(8).
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Zonta MB, Teive HAG, Camargo CHF, Meira AT, Lopes Neto FDN, Tensini FS, Braga CB, Ashizawa T, Munhoz RP. Comparing loss of balance and functional capacity among patients with SCA2, SCA3 and SCA10. Clin Neurol Neurosurg. 2022 03; 214:107150.
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Meira AT, Arruda WO, Franklin GL, Coutinho L, Strobel G, Ono SE, de Carvalho Neto A, Camargo CHF, Munhoz RP, Ashizawa T, Teive HAG. Reply to: "Cognitive Impairments in Spinocerebellar Ataxia Type 10 and Their Relation to Cortical Thickness". Mov Disord. 2021 12; 36(12):2977.
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Stevens SR, van der Heijden ME, Ogawa Y, Lin T, Sillitoe RV, Rasband MN. Ankyrin-R Links Kv3.3 to the Spectrin Cytoskeleton and Is Required for Purkinje Neuron Survival. J Neurosci. 2022 01 05; 42(1):2-15.
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Peng L, Wang S, Chen Z, Peng Y, Wang C, Long Z, Peng H, Shi Y, Hou X, Lei L, Wan L, Liu M, Zou G, Shen L, Xia K, Qiu R, Tang B, Ashizawa T, Klockgether T, Jiang H. Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis. Mov Disord. 2022 01; 37(1):171-181.
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Zhang N, Bewick B, Schultz J, Tiwari A, Krencik R, Zhang A, Adachi K, Xia G, Yun K, Sarkar P, Ashizawa T. DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases. Neurotherapeutics. 2021 07; 18(3):1710-1728.
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Suart CE, Perez AM, Al-Ramahi I, Maiuri T, Botas J, Truant R. Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase. Hum Mol Genet. 2021 05 17; 30(8):706-715.
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Lee WS, Lavery L, Rousseaux MWC, Rutledge EB, Jang Y, Wan YW, Wu SR, Kim W, Al-Ramahi I, Rath S, Adamski CJ, Bondar VV, Tewari A, Soleimani S, Mota S, Yalamanchili HK, Orr HT, Liu Z, Botas J, Zoghbi HY. Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1. EMBO J. 2021 04 01; 40(7):e106106.
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Nitschke L, Coffin SL, Xhako E, El-Najjar DB, Orengo JP, Alcala E, Dai Y, Wan YW, Liu Z, Orr HT, Zoghbi HY. Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1. JCI Insight. 2021 02 08; 6(3).