COMMENT It is well established that DNA double-strand breaks and R-loops contribute to genome instability and, in turn, to pathological outcomes. What is novel about this study is that a mechanism is provided, bringing together both R-loops and DNA double-strand ...
University of QueenslandBrisbane, Australia
PAPER Rabinovici G
PAPER Mez J, Daneshvar DH, Kiernan PT, Abdolmohammadi B, Alvarez VE, Huber BR, Alosco ML, Solomon TM, Nowinski CJ, McHale L, Cormier KA, Kubilus CA, Martin BM, Murphy L, Baugh CM, Montenigro PH, Chaisson CE, Tripodis Y, Kowall NW, Weuve J, McClean MD, Cantu RC, Goldstein LE, Katz DI, Stern RA, Stein TD, McKee AC
COMMENT This is an important paper. It highlights the importance of SRSF1 in regulating the transport of mutant C9ORF72 transcripts from the nucleus to the cytoplasm. SR proteins are best known for their effects in regulating splicing, with more recent data ...
COMMENT Zoe A. Klein and colleagues in Stephen Strittmatter's lab show that deficiency of TMEM106B partially rescues the lysosomal effects of knocking out progranulin (Grn) in mice. Klein et al. show that in Grn knockout mice, increased levels of lysosomal ...
PAPER Gachet Y, Codlin S, Hyams JS, Mole SE
btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.J Cell Sci. 2005 Dec 1;118(Pt 23):5525-36. Epub 2005 Nov 15 PubMed: 16291725
Humboldt State UniversityArcata, United States
University of ExeterExeter, United Kingdom
COMMENT This study is an important advance for CADASIL. CADASIL patients have no available therapies. They desperately need increased awareness of this terrible disease and an interest from researchers in developing disease-modifying drugs. Dr. Arboleda-Velazquez ...
CovanceWellesley, United States
Imago PharmaceuticalsJackson, United States
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