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ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism.
Rousseaux MWC, Tschumperlin T, Lu HC, Lackey EP, Bondar VV, Wan YW, Tan Q, Adamski CJ, Friedrich J, Twaroski K, Chen W, Tolar J, Henzler C, Sharma A, Bajić A, Lin T, Duvick L, Liu Z, Sillitoe RV, Zoghbi HY, Orr HT. Rousseaux MWC, et al. Among authors: friedrich j. Neuron. 2018 Mar 21;97(6):1235-1243.e5. doi: 10.1016/j.neuron.2018.02.013. Epub 2018 Mar 8. Neuron. 2018. PMID: 29526553 Free PMC article.
Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model.
Pérez Ortiz JM, Mollema N, Toker N, Adamski CJ, O'Callaghan B, Duvick L, Friedrich J, Walters MA, Strasser J, Hawkinson JE, Zoghbi HY, Henzler C, Orr HT, Lagalwar S. Pérez Ortiz JM, et al. Among authors: friedrich j. Neurobiol Dis. 2018 Aug;116:93-105. doi: 10.1016/j.nbd.2018.05.002. Epub 2018 May 11. Neurobiol Dis. 2018. PMID: 29758256 Free PMC article.
Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.
Friedrich J, Kordasiewicz HB, O'Callaghan B, Handler HP, Wagener C, Duvick L, Swayze EE, Rainwater O, Hofstra B, Benneyworth M, Nichols-Meade T, Yang P, Chen Z, Ortiz JP, Clark HB, Öz G, Larson S, Zoghbi HY, Henzler C, Orr HT. Friedrich J, et al. JCI Insight. 2018 Nov 2;3(21):e123193. doi: 10.1172/jci.insight.123193. JCI Insight. 2018. PMID: 30385727 Free PMC article.
Antisense Oligonucleotide Therapeutic Approach for Suppression of Ataxin-1 Expression: A Safety Assessment.
O'Callaghan B, Hofstra B, Handler HP, Kordasiewicz HB, Cole T, Duvick L, Friedrich J, Rainwater O, Yang P, Benneyworth M, Nichols-Meade T, Heal W, Ter Haar R, Henzler C, Orr HT. O'Callaghan B, et al. Among authors: friedrich j. Mol Ther Nucleic Acids. 2020 Sep 4;21:1006-1016. doi: 10.1016/j.omtn.2020.07.030. Epub 2020 Jul 25. Mol Ther Nucleic Acids. 2020. PMID: 32818920 Free PMC article.
Preoperative hemoglobin thresholds for survival equity in women and men.
Rumpf F, Hof L, Old O, Friederich P, Friedrich J, Thoma J, Wittmann M, Zacharowski K, Choorapoikayil S, Meybohm P. Rumpf F, et al. Among authors: friedrich j. Front Med (Lausanne). 2024 Mar 13;11:1334773. doi: 10.3389/fmed.2024.1334773. eCollection 2024. Front Med (Lausanne). 2024. PMID: 38545508 Free PMC article.
Supplementation of the maternal diet with Brazil nut (Bertholletia excelsa H.B.K.) prevents cognitive impairment in the offspring of obese mothers.
Apolinário LF, Silva AT, Rosa AP, Oliveira CDS, Lira C, Guerra JPCDS, Friedrich JF, Rosa LQ, Chelegão R, Botelho SCC, Sinhorin VDG, de Oliveira JC, Velloso NA. Apolinário LF, et al. Among authors: friedrich jf. J Dev Orig Health Dis. 2023 Dec;14(6):795-804. doi: 10.1017/S2040174424000023. Epub 2024 Feb 12. J Dev Orig Health Dis. 2023. PMID: 38345286
828 results