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Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation.
Coyne AN, Yamada SB, Siddegowda BB, Estes PS, Zaepfel BL, Johannesmeyer JS, Lockwood DB, Pham LT, Hart MP, Cassel JA, Freibaum B, Boehringer AV, Taylor JP, Reitz AB, Gitler AD, Zarnescu DC. Coyne AN, et al. Among authors: freibaum b. Hum Mol Genet. 2015 Dec 15;24(24):6886-98. doi: 10.1093/hmg/ddv389. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385636 Free PMC article.
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP. Kim HJ, et al. Among authors: freibaum b. Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3. Nature. 2013. PMID: 23455423 Free PMC article.
Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.
Alami NH, Smith RB, Carrasco MA, Williams LA, Winborn CS, Han SSW, Kiskinis E, Winborn B, Freibaum BD, Kanagaraj A, Clare AJ, Badders NM, Bilican B, Chaum E, Chandran S, Shaw CE, Eggan KC, Maniatis T, Taylor JP. Alami NH, et al. Among authors: freibaum bd. Neuron. 2014 Feb 5;81(3):536-543. doi: 10.1016/j.neuron.2013.12.018. Neuron. 2014. PMID: 24507191 Free PMC article.
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.
Freibaum BD, Lu Y, Lopez-Gonzalez R, Kim NC, Almeida S, Lee KH, Badders N, Valentine M, Miller BL, Wong PC, Petrucelli L, Kim HJ, Gao FB, Taylor JP. Freibaum BD, et al. Nature. 2015 Sep 3;525(7567):129-33. doi: 10.1038/nature14974. Epub 2015 Aug 26. Nature. 2015. PMID: 26308899 Free PMC article.
C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles.
Lee KH, Zhang P, Kim HJ, Mitrea DM, Sarkar M, Freibaum BD, Cika J, Coughlin M, Messing J, Molliex A, Maxwell BA, Kim NC, Temirov J, Moore J, Kolaitis RM, Shaw TI, Bai B, Peng J, Kriwacki RW, Taylor JP. Lee KH, et al. Among authors: freibaum bd. Cell. 2016 Oct 20;167(3):774-788.e17. doi: 10.1016/j.cell.2016.10.002. Cell. 2016. PMID: 27768896 Free PMC article.
The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD.
Freibaum BD, Taylor JP. Freibaum BD, et al. Front Mol Neurosci. 2017 Feb 13;10:35. doi: 10.3389/fnmol.2017.00035. eCollection 2017. Front Mol Neurosci. 2017. PMID: 28243191 Free PMC article. Review.
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