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Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA. Modifiers of (CAG)n instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. Human Genetics 2014 Oct;133(10):1311-1318.


Reddy K, Schmidt MH, Geist JM, Thakkar NP, Panigrahi GB, Wang YH, Pearson CE. Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability. Nucleic Acids Research 2014 Aug 21.


Mason AG, Tomé S, Simard JP, Libby RT, Bammler TK, Beyer RP, Morton AJ, Pearson CE, La Spada AR. Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age. Human Molecular Genetics 2014 Mar 15;23(6):1606-18.


Zamiri B, Reddy K, Macgregor RB Jr, Pearson CE. TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins. The Journal of Biological Chemistry 2014 Feb 21;289(8):4653-9.

Image is a 4-stranded interwoven braid representing 4 RNA molecules forming a G-quadruplex, the molecular structure at bottom right. RNA is the amyotrophic lateral sclerosis (ALS)-associated C9orf72 genetic sequence, r(GGGGCC)n. In this issue, Zamiri et al., pages 4653–4659, show that this RNA forms a G-quadruplex that binds RNA-binding proteins, which may be an important factor in ALS, particularly with regard to the RNA foci observed in patient cells. Protein interactions can be disrupted by interaction with the G-quadruplex-specific porphyrin TMPyP4, which has potential therapeutic implications. Image conception and production by C. E. Pearson, N. T. Pearson, and D. Dubins.

Axford MM, Wang YH, Nakamori M, Zannis-Hadjopoulos M, Thornton CA, Pearson CE. Detection of Slipped-DNAs at the Trinucleotide Repeats of the Myotonic Dystrophy Type I Disease Locus in Patient Tissues PLoS Genetics 2013;9(12):e1003866.


Pinto RM, Dragileva E, Kirby A, Lloret A, Lopez E, St Claire J, Panigrahi GB, Hou C, Holloway K, Gillis T, Guide JR, Cohen PE, Li GM, Pearson CE, Daly Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches. PLoS Genetics 2013 Oct;9(10):e1003930.


Hick A, Wattenhofer-Donzé M, Chintawar S, Tropel P, Simard JP, Vaucamps N, Gall D, Lambot L, André C, Reutenauer L, Rai M, Teletin M, Messaddeq N, Sch Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich\'s ataxia. Disease Models & Mechanisms 2013 May;6(3):608-21.


Reddy K, Pearson CE RAN translation: fragile X in the running. Neuron 2013 May 8;78(3):405-8.

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