Tuesday, April 23, 2013

Classic Galactosemia (aka Type I Galactosemia) and long-term outcomes. Characterization of a fly model. Recent report.

Ryan EL, DuBoff B, Feany MB, Fridovich-Keil JL. Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia. Dis Model Mech. 2012 Nov;5(6):796-803. doi: 10.1242/dmm.009050. PMID: 22736462; Now freely available at PMCID: PMC3484862.

From the abstract:  "... our results confirm that, like human patients, GALT-null Drosophila experience significant long-term complications that occur independently of galactose exposure, and serve as a proof of principle demonstrating utility of the GALT-null Drosophila model as a tool for exploring genetic and environmental modifiers of long-term outcome in GALT deficiency."

See this post for comments from Annette Parks regarding galactosemia model fly stocks at BDSC.

Monday, April 22, 2013

Human SOD in flies. Consequences of expression in motorneurons. Relevance to ALS. Recent report.

Petrosyan A, Gonçalves OF, Hsieh IH, Phillips JP, Saberi K. Enhanced Optomotor Efficiency by Expression of the Human Gene Superoxide Dismutase Primarily in Drosophila Motorneurons. J Neurogenet. 2013 Apr 18. PubMed PMID: 23597337.

Wednesday, April 17, 2013

The Fly & Physiology. Recent review.

Neckameyer WS, Argue KJ. Comparative approaches to the study of physiology: Drosophila as a physiological tool. Am J Physiol Regul Integr Comp Physiol. 2013 Feb;304(3):R177-88.  PMID: 23220476.

In the summary, the authors state that "The contributions of the Drosophila model to our understanding of numerous diverse physiological pathways cannot be overemphasized ... so much of what we now realize to be of critical significance in the etiology of human disease can trace its lineage to genetic mutations identified in Drosophila."

Effects of a microtubule-stabilizing drug on fly model of tauopathy. Recent report.

Quraishe S, Cowan CM, Mudher A. NAP (davunetide) rescues neuronal dysfunction in a Drosophila model of tauopathy. Mol Psychiatry. 2013 Apr 16. PMID: 23587881.

Tuesday, April 16, 2013

Mitochondrial disorders. New fly disease model. Recent report.

Studies in Drosophila contribute to characterization of a human gene newly implicated in disease. Table 2 of the paper presents a comparison of the human disease and fly knockdown phenotypes.

van Bon BW, Oortveld MA, Nijtmans LG, Fenckova M, Nijhof B, Besseling J, Vos M, Kramer JM, de Leeuw N, Castells-Nobau A, Asztalos L, Viragh E, Ruiter M, Hofmann F, Eshuis L, Collavin L, Huynen MA, Asztalos Z, Verstreken P, Rodenburg RJ, Smeitink JA, de Vries BB, Schenck A. CEP89 is required for mitochondrial metabolism and neuronal function in man and fly. Hum Mol Genet. 2013 Apr 10. PMID: 23575228.

Hippo pathway in mice vs. flies. Relevant to cancer and cancer models. Recent report.

Bossuyt W, Chen CL, Chen Q, Sudol M, McNeill H, Pan D, Kopp A, Halder G. An evolutionary shift in the regulation of the Hippo pathway between mice and flies. Oncogene. 2013 Apr 8. PubMed PMID: 23563179.

Cardiac hypertrophy. Ras mutant forms. Recent report.

Yu L, Daniels J, Glaser AE, Wolf MJ. Raf-mediated cardiac hypertrophy in adult Drosophila. Dis Model Mech. 2013 Apr 4. PubMed PMID: 23580199.

Flies & Worms & Spinal Myscular Atrophy. Recent report.

Dimitriadi M, Kye MJ, Kalloo G, Yersak JM, Sahin M, Hart AC. The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models. J Neurosci. 2013 Apr 10;33(15):6557-62. PubMed PMID: 23575853.

From the abstract: "... parallel genetic screens were undertaken in Drosophila and Caenorhabditis elegans SMA models to identify modifiers of the SMN loss of function phenotypes ... We examine here the impact of riluzole in two different SMA models. ... We propose that riluzole improves motor neuron function by acting on SK channels and suggest that SK channels may be important therapeutic targets for SMA patients."

Monday, April 15, 2013

Relevance of fly model of Friedreich's ataxia to drug discovery. Recent report.

Soriano S, Llorens JV, Sobero LB, Gutiérrez L, Calap-Quintana P, Morales MP, Moltó MD, Martínez-Sebastián MJ. Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia. Gene. 2013 Mar 28. PubMed PMID: 23542074.

From the abstract: "These results validate the use of our Drosophila model of FRDA to screen for therapeutic molecules to treat this disease."

Drosophila Alzheimer's disease model & Tip60 HAT activity. Recent report.

Pirooznia SK, Sarthi J, Johnson AA, Toth MS, Chiu K, Koduri S, Elefant F. Tip60 HAT activity  mediates APP induced lethality and apoptotic cell death in the CNS of a Drosophila  Alzheimer's disease model. PLoS One. 2012;7(7):e41776. PubMed PMID: 22848598; PubMed Central PMCID: PMC3406101.

RNA expansion-induced neurodegeneration. Fly model. Recent report.

Samaraweera SE, O'Keefe LV, Price GR, Venter DJ, Richards RI. Distinct roles for Toll and  autophagy pathways in double-stranded RNA toxicity in a Drosophila model of expanded repeat neurodegenerative diseases. Hum Mol Genet. 2013 Mar 29. PubMed PMID: 23525903.

PINK1, Parkin & TRAP. Flies & Parkinson's Disease. Recent report.

Zhang L, Karsten P, Hamm S, Pogson JH, Müller-Rischart AK, Exner N, Haass C, Whitworth AJ, Winklhofer KF, Schulz JB, Voigt A. TRAP1 rescues PINK1 loss-of-function phenotypes. Hum Mol Genet. 2013 Apr 7. PubMed PMID: 23525905.

NF kappa B activation & neurodegeneration. Recent report.

Petersen AJ, Katzenberger RJ, Wassarman DA. The Innate Immune Response Transcription Factor Relish is Necessary for Neurodegeneration in a Drosophila Model of Ataxia-telangiectasia. Genetics. 2013 Mar 15. PubMed PMID: 23502677.

See also a previous post on the innate immune response pathway & neurodegenerative disease.

Friday, April 12, 2013

Huntington's Disease. Validation of a fly model. Recent report.

Zala D, Hinckelmann MV, Saudou F. Huntingtin's Function in Axonal Transport Is Conserved in Drosophila melanogaster. PLoS One. 2013;8(3):e60162. PubMed PMID: 23555909; PubMed Central PMCID: PMC3610688.

From the abstract: "These results suggest that the function of HTT in axonal transport is conserved between flies and mammals. Our study therefore validates Drosophila melanogaster as a model to study HTT function, and its dysfunction associated with HD."

Huntington's Disease & the fly. Wingless signaling & therapeutics.

Dupont P, Besson MT, Devaux J, Liévens JC. Reducing canonical Wingless/Wnt signaling pathway confers protection against mutant Huntingtin toxicity in Drosophila. Neurobiol Dis. 2012 Aug;47(2):237-47. doi: 10.1016/j.nbd.2012.04.007. PubMed PMID: 22531500.

From the abstract: "Our findings highlight that restoring canonical Wg/Wnt signaling may be of therapeutic value."

Liebenberg syndrome & the fly.

Now freely available at PMC: 

Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S. Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. Am J Hum Genet. 2012 PubMed PMID: 23022097; PubMed Central PMCID: PMC3484647.

For a link to a general-audience piece on this topic, see this past post.

Understanding neurodegeneration in ALS. Recent report.

Forrest S, Chai A, Sanhueza M, Marescotti M, Parry K, Georgiev A, Sahota V, Mendez-Castro R, Pennetta G. Increased levels of phosphoinositides cause neurodegeneration in a Drosophila model of amyotrophic lateral sclerosis. Hum Mol Genet. 2013 Mar 29. PubMed PMID: 23492670.

Two reports involving human tau-based fly disease models. Recent report.

Xiong Y, Zhao K, Wu J, Xu Z, Jin S, Zhang YQ. HDAC6 mutations rescue human tau-induced  microtubule defects in Drosophila. Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):4604-9. doi: 10.1073/pnas.1207586110. PubMed PMID: 23487739; PubMed Central PMCID: PMC3606981.

Wu TH, Lu YN, Chuang CL, Wu CL, Chiang AS, Krantz DE, Chang HY. Loss of vesicular dopamine release precedes tauopathy in degenerative dopaminergic neurons in a Drosophila model expressing human tau. Acta Neuropathol. 2013 Mar 15. PubMed PMID: 23494099.

Cinnamon, flies & neuronal degeneration. Recent report.

Shaltiel-Karyo R, Davidi D, Frenkel-Pinter M, Ovadia M, Segal D, Gazit E. Differential inhibition of α-synuclein oligomeric and fibrillar assembly in parkinson's disease model by cinnamon extract. Biochim Biophys Acta. 2012 Oct;1820(10):1628-35. doi: 10.1016/j.bbagen.2012.04.021. PubMed PMID: 22575665.

Identification of "a previously unknown causative factor for metabolic syndrome in humans" using flies. Recent report.

Subramanian M, Metya SK, Sadaf S, Kumar S, Schwudke D, Hasan G. Altered lipid homeostasis in Drosophila InsP3 receptor mutants leads to obesity and hyperphagia. Dis Model Mech. 2013 Mar 15. PubMed PMID: 23471909.

New Fly Model of Myotonic Dystrophy. Recent Report.

Picchio L, Plantie E, Renaud Y, Poovthumkadavil P, Jagla K. Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression. Hum Mol Genet. 2013 Apr 3. PubMed PMID: 23525904.

From the abstract: "we found the calcium pump dSERCA as a Mbl splice target and show that the membrane dSERCA isoform is sufficient to rescue a DM1-induced hypercontraction phenotype in a Drosophila model."

Thursday, April 4, 2013

ALS & the fly. Human disease-associated SOD1 mutations in the fly. Recent report.

Kumimoto EL, Fore TR, Zhang B. Transcriptome Profiling Following Neuronal and Glial Expression of ALS-Linked SOD1 in Drosophila. G3 (Bethesda). 2013 Mar 11. PMID: 23550139.