Friday, May 31, 2013

Recent report: Parallel work in mouse and fly related to facioscapulohumeral muscular dystrophy

Neguembor MV, Xynos A, Onorati MC, Caccia R, Bortolanza S, Godio C, Pistoni M, Corona DF, Schotta G, Gabellini D. FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis. J Mol Cell Biol. 2013 May 29. PMID: 23720823.

Four recent papers related to flies and neurodegeneration.

The recent paper have in common that they relate to neurodegenerative diseases.

Samaraweera SE, O'Keefe LV, van Eyk CL, Lawlor KT, Humphreys DT, Suter CM, Richards RI. Modeling and Analysis of Repeat RNA Toxicity in Drosophila. Methods Mol Biol. 2013;1017:173-192. PMID: 23719916.

Song W, Smith MR, Syed A, Lukacsovich T, Barbaro BA, Purcell J, Bornemann DJ, Burke J, Marsh JL. Morphometric Analysis of Huntington's Disease Neurodegeneration in Drosophila. Methods Mol Biol. 2013;1017:41-57. PMID: 23719906.

Ju H, Kokubu H, Todd TW, Kahle JJ, Kim S, Richman R, Chirala K, Orr HT, Zoghbi HY, Lim J. Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1. J Neurosci. 2013 May 29;33(22):9328-9336. PMID: 23719801.

Park J, Al-Ramahi I, Tan Q, Mollema N, Diaz-Garcia JR, Gallego-Flores T, Lu HC, Lagalwar S, Duvick L, Kang H, Lee Y, Jafar-Nejad P, Sayegh LS, Richman R, Liu X, Gao Y, Shaw CA, Arthur JS, Orr HT, Westbrook TF, Botas J, Zoghbi HY. RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1. Nature. 2013 May 29. PMID: 23719381.

Tuesday, May 28, 2013

Screen in fly model of the myopathy Myotonic Dystrophy Type 1

This study related to Myotonic Dystrophy Type 1 crosses the bridge from fly screen (eye phenotype readout) to mammalian cell follow-up studies.

de Haro M, Al-Ramahi I, Jones KR, Holth JK, Timchenko LT, Botas J. Smaug/SAMD4A Restores Translational Activity of CUGBP1 and Suppresses CUG-Induced Myopathy. PLoS Genet. 2013 Apr;9(4):e1003445. PMID: 23637619; PMCID: PMC3630084.

Monday, May 27, 2013

Catching up--recent papers on brain-related studies

Shaltiel-Karyo R, Frenkel-Pinter M, Rockenstein E, Patrick C, Levy-Sakin M,Schiller A, Egoz-Matia N, Masliah E, Segal D, Gazit E. A BBB Disrupter is also a Potentalpha-Synuclein (alpha-syn) Aggregation Inhibitor: A Novel Dual Mechanism of Mannitol for the Treatment of Parkinson's Disease (PD). J Biol Chem. 2013 May 1. PMID: 23637226.

Esposito G, Vos M, Vilain S, Swerts J, De Sousa Valadas J, Van Meensel S, Schaap O, Verstreken P. Aconitase Causes Iron Toxicity in Drosophila pink1 Mutants. PLoS Genet. 2013 Apr;9(4):e1003478. PMID: 23637640; PMCID: PMC3636082.

Haddad DM, Vilain S, Vos M, Esposito G, Matta S, Kalscheuer VM, Craessaerts K, Leyssen M, Nascimento RM, Vianna-Morgante AM, De Strooper B, Van Esch H, Morais VA, Verstreken P. Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy. Mol Cell. 2013 May 14. PMID: 23685073.

Soldano A, Okray Z, Janovska P, Tmejová K, Reynaud E, Claeys A, Yan J, Atak ZK, De Strooper B, Dura JM, Bryja V, Hassan BA. The Drosophila Homologue of the Amyloid Precursor Protein Is a Conserved Modulator of Wnt PCP Signaling. PLoS Biol. 2013 May;11(5):e1001562. PMID: 23690751; PMCID: PMC3653798.

Saturday, May 25, 2013

Using Drosophila to study blast injury. Recent report.

Hockey KS, Hubbard WB, Sajja VS, Sholar CA, Thorpe C, Vandevord PJ, Rzigalinski BA. A new model for mild blast injury utilizing Drosophila melanogaster - biomed 2013. Biomed Sci Instrum. 2013;49:134-40. PubMed PMID: 23686192.

Wednesday, May 15, 2013

Sneak Preview: TRiP VAL20 in vivo RNAi fly stocks corresponding to highest-confidence fly disease gene orthologs

The DRSC/TRiP has launched a new web page that lists highest confidence fly orthologs of disease genes (DIOPT scores of 8, 9 or 10 at the time of analysis). This list is limited to human genes associated with disease at the NCBI Online Mendelian Inheritance in Man database (DIOPT-DIST search results will also report associations based on GWAS data).

The page lets you see if there are TRiP VALIUM20 fly stocks for these genes at the Bloomington Drosophila Stock Center. With links to details about the fly genes, human genes, etc. All of the genes on this list have been nominated and are in production for VAL20 TRiP fly stocks.

This resource should help you look at the reduction-of-function RNAi knockdown phenotypes of disease gene orthologs to develop new disease models or otherwise study gene function.

Expert tip:  To view the specific disease or diseases associated with a gene, click the DIOPT score. If you want to then expand the gene candidates list, you can use DIOPT-DIST to search for more genes that match the same disease term or use DIOPT to search for more orthologs of the human gene.