Thursday, January 30, 2014

Fly study with relevance to DiGeorge syndrome

Luhur A, Chawla G, Wu YC, Li J, Sokol NS. Drosha-independent DGCR8/Pasha pathway regulates neuronal morphogenesis. Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1421-6. PMID: 24474768.

Ret and mitochondria in a fly Parkinson's Disease model.

Klein P, Müller-Rischart AK, Motori E, Schönbauer C, Schnorrer F, Winklhofer KF, Klein R. Ret rescues mitochondrial morphology and muscle degeneration of Drosophila Pink1 mutants. EMBO J. 2014 Jan 28. PMID: 24473149.

Wednesday, January 29, 2014

Endonuclease-G in neurodegenerative disease. Report includes fly studies.

Büttner S, Habernig L, Broeskamp F, Ruli D, Vögtle FN, Vlachos M, Macchi F, Küttner V, Carmona-Gutierrez D, Eisenberg T, Ring J, Markaki M, Taskin AA, Benke S, Ruckenstuhl C, Braun R, Van den Haute C, Bammens T, van der Perren A, Fröhlich KU, Winderickx J, Kroemer G, Baekelandt V, Tavernarakis N, Kovacs GG, Dengjel J, Meisinger C, Sigrist SJ, Madeo F. Endonuclease G mediates α-synuclein cytotoxicity during Parkinson's disease. EMBO J. 2013 Nov 27;32(23):3041-54. PMID: 24129513; PMCID: PMC3844953.

In the above study, results from assays in yeast, C. elegans and Drosophila are combined to help uncover mechanisms underlying cytotoxicity associated with alpha-synuclein.

A comment on this "landmark" study appears in the same journal: Hogg MC and Prehn JH. Endonuclease-G and the pathways to dopaminergic neurodegeneration: a question of location? EMBO J. 2013 Nov 27;32(23):3014-6. PMID: 24162725; PMCID: PMC3844957.

Tuesday, January 28, 2014

Fragile X model and GABAergic dysfunction

Gatto CL, Pereira D, Broadie K. GABAergic circuit dysfunction in the Drosophila Fragile X syndrome model. Neurobiol Dis. 2014 Jan 12. pii: S0969-9961(14)00015-1. PMID: 24423648.

Review: Modeling obesity in flies.

Trinh I, Boulianne GL. Modeling obesity and its associated disorders in Drosophila. Physiology (Bethesda). 2013 Mar;28(2):117-24. PMID: 23455770.

Fly as a model for study of head trauma

Katzenberger RJ, Loewen CA, Wassarman DR, Petersen AJ, Ganetzky B, Wassarman DA. A Drosophila model of closed head traumatic brain injury. Proc Natl Acad Sci U S A. 2013 Oct 29;110(44):E4152-9. doi: 10.1073/pnas.1316895110. PMID: 24127584; PMCID: PMC3816429.

Fly study related to SMA

Borg R, Cauchi RJ. The gemin associates of survival motor neuron are required for motor function in Drosophila. PLoS One. 2013 Dec 31;8(12):e83878. PMID: 24391840; PMCID: PMC3877121.

Fly study related to hereditary spastic paraplegia (HSP)

O'Sullivan NC, Dräger N, O'Kane CJ. Characterization of the Drosophila atlastin interactome reveals VCP as a functionally related interactor. J Genet Genomics. 2013 Jun 20;40(6):297-306. PMID: 23790629.

Drosophila model of intellectual disability implicates Wnt pathway

Vandewalle J, Langen M, Zschaetzsch M, Nijhof B, Kramer JM, Brems H, Bauters M, Lauwers E, Srahna M, Marynen P, Verstreken P, Schenck A, Hassan BA, Froyen G. Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability. PLoS One. 2013 Nov 26;8(11):e81791. PMID: 24303071; PMCID: PMC3841167.

Catching up--they fly in neurodegenerative disease studies (including AD, PD, HD and ALS, plus retinal degeneration)

Frost B, Hemberg M, Lewis J, Feany MB. Tau promotes neurodegeneration through global chromatin relaxation. Nat Neurosci. 2014 Jan 26. PMID: 24464041.

Smith MR, Syed A, Lukacsovich T, Purcell J, Barbaro BA, Worthge SA, Wei SR, Pollio G, Magnoni L, Scali C, Massai L, Franceschini D, Camarri M, Gianfriddo M, Diodato E, Thomas R, Gokce O, Tabrizi S, Caricasole A, Landwehrmeyer B, Menalled L, Murphy C, Ramboz S, Carter RL, Westerberg G, Marsh JL. A potent and selective Sirtuin 1 inhibitor alleviates pathology in multiple animal and cell models of Huntington's disease. Hum Mol Genet. 2014 Jan 16. PMID: 24436303.

Povellato G, Tuxworth RI, Hanger DP, Tear G. Modification of the Drosophila model of in vivo Tau toxicity reveals protective phosphorylation by GSK3β. Biol Open. 2014 Jan 15;3(1):1-11. PMID: 24429107; PMCID: PMC3892155.

Zhu JY, Vereshchagina N, Sreekumar V, Burbulla LF, Costa AC, Daub KJ, Woitalla D, Martins LM, Krüger R, Rasse TM. Knockdown of Hsc70-5/mortalin Induces Loss of Synaptic Mitochondria in a Drosophila Parkinson's Disease Model. PLoS One. 2013 Dec 30;8(12):e83714. PMID: 24386261; PMCID: PMC3875477.

Shahidullah M, Le Marchand SJ, Fei H, Zhang J, Pandey UB, Dalva MB, Pasinelli P, Levitan IB. Defects in Synapse Structure and Function Precede Motor Neuron Degeneration in Drosophila Models of FUS-Related ALS. J Neurosci. 2013 Dec 11;33(50):19590-8. PMID: 24336723; PMCID: PMC3858628.

Favrin G, Bean DM, Bilsland E, Boyer H, Fischer BE, Russell S, Crowther DC,Baylis HA, Oliver SG, Giannakou ME. Identification of novel modifiers of Aβ toxicity by transcriptomic analysis in the fruitfly. Sci Rep. 2013 Dec 16;3:3512. PMID: 24336499; PMCID: PMC3863820.

Kim HJ, Raphael AR, Ladow ES, McGurk L, Weber RA, Trojanowski JQ, Lee VM, Finkbeiner S, Gitler AD, Bonini NM. Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models. Nat Genet. 2013 Dec 15. PMID: 24336168.

Sanhueza M, Zechini L, Gillespie T, Pennetta G. Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles. Biol Open. 2014 Jan 15;3(1):59-71. PMID: 24326187; PMCID: PMC3892161.

Singh MD, Raj K, Sarkar S. Drosophila Myc, a novel modifier suppresses the poly(Q) toxicity by modulating the level of CREB binding protein and histone acetylation. Neurobiol Dis. 2014 Mar;63:48-61. PMID: 24291519.

Moran MT, Tare M, Kango-Singh M, Singh A. Homeotic Gene teashirt (tsh) has a neuroprotective function in amyloid-beta 42 mediated neurodegeneration. PLoS One. 2013 Nov 25;8(11):e80829. doi: PMID: 24282556; PMCID: PMC3840013.

Prüßing K, Voigt A, Schulz JB. Drosophila melanogaster as a model organism for Alzheimer's disease. Mol Neurodegener. 2013 Nov 22;8:35. PMID: 24267573.

Steffensmeier AM, Tare M, Puli OR, Modi R, Nainaparampil J, Kango-Singh M, Singh A. Novel neuroprotective function of apical-basal polarity gene crumbs in amyloid beta 42 (aβ42) mediated neurodegeneration. PLoS One. 2013 Nov 18;8(11):e78717. PMID: 24260128; PMCID: PMC3832507.

Riemensperger T, Issa AR, Pech U, Coulom H, Nguyễn MV, Cassar M, Jacquet M, Fiala A, Birman S. A single dopamine pathway underlies progressive locomotor deficits in a Drosophila model of Parkinson disease. Cell Rep. 2013 Nov 27;5(4):952-60. PMID: 24239353.

Shieh BH. Molecular genetics of retinal degeneration: A Drosophila perspective. Fly (Austin). 2011 Oct-Dec;5(4):356-68. PMID: 21897116; PMCID: PMC3266078.

Hindle S, Afsari F, Stark M, Middleton CA, Evans GJ, Sweeney ST, Elliott CJ. Dopaminergic expression of the Parkinsonian gene LRRK2-G2019S leads to non-autonomous visual neurodegeneration, accelerated by increased neural demands for energy. Hum Mol Genet. 2013 Jun 1;22(11):2129-40. PMID: 23396536; PMCID: PMC3652415.

Hindle SJ, Elliott CJ. Spread of neuronal degeneration in a dopaminergic, Lrrk-G2019S model of Parkinson disease. Autophagy. 2013 Jun 1;9(6):936-8. PMID: 23529190; PMCID: PMC3672307.

Fly study with relevance to lysosomal storage disorders

Feng X, Huang Y, Lu Y, Xiong J, Wong CO, Yang P, Xia J, Chen D, Du G, Venkatachalam K, Xia X, Zhu MX. Drosophila TRPML forms PI(3,5)P2-activated cation channels in both endolysosomes and plasma membrane. J Biol Chem. 2013 Dec 27. PMID: 24375408.

Review: study of infectious pathogens in the fly model

Panayidou S, Ioannidou E, Apidianakis Y. Human pathogenic bacteria, fungi, and viruses in Drosophila: Disease modeling, lessons, and shortcomings. Virulence. 2014 Jan 7;5(2). PMID: 24398387.

Mitochondrial disease and the fly

Kemppainen KK, Rinne J, Sriram A, Lakanmaa M, Zeb A, Tuomela T, Popplestone A, Singh S, Sanz A, Rustin P, Jacobs HT. Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency. Hum Mol Genet. 2013 Dec 16. PMID: 24293544.

Video imaging included in fly study related to heart disease

Cozhimuttam Viswanathan M, Kaushik G, Engler AJ, Lehman W, Cammarato A. A Drosophila melanogaster Model of Diastolic Dysfunction and Cardiomyopathy Based on Impaired Troponin-T Function. Circ Res. 2014 Jan 17;114(2):e6-e17. PMID: 24221941.

Nephrotic syndrome study includes zebrafish and fly assays

Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 Dec 2;123(12):5179-89. PMID: 24270420; PMCID: PMC3859425.

Neurofibromitosis-related study

Walker JA, Gouzi JY, Long JB, Huang S, Maher RC, Xia H, Khalil K, Ray A, Van Vactor D, Bernards R, Bernards A. Genetic and functional studies implicate synaptic overgrowth and ring gland cAMP/PKA signaling defects in the Drosophila melanogaster neurofibromatosis-1 growth deficiency. PLoS Genet. 2013 Nov;9(11):e1003958. PMID: 24278035; PMCID: PMC3836801.

P-type ATPase disease & fly study

Kaneko M, Desai BS, Cook B. Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases. Nat Genet. 2013 Dec 15. PMID: 24336169.

Use of Drosophila Genetic Reference stock collection in diabetes-related studies

He BZ, Ludwig MZ, Dickerson DA, Barse L, Arun B, Vilhjálmsson BJ, Park SY, Tamarina NA, Selleck SB, Wittkopp PJ, Bell GI, Kreitman M. Effect of Genetic Variation in a Drosophila Model of Diabetes-Associated Misfolded Human Proinsulin. Genetics. 2013 Nov 26. PMID: 24281155.

Park SY, Ludwig MZ, Tamarina NA, He BZ, Carl SH, Dickerson DA, Barse L, Arun B, Williams CL, Miles CM, Philipson LH, Steiner DF, Bell GI, Kreitman M. Genetic Complexity in a Drosophila Model of Diabetes-Associated Misfolded Human Proinsulin. Genetics. 2013 Nov 26. PMID: 24281154.

Make more fly disease models faster? Methods paper reviews genome engineering in Drosophila.

Beumer KJ and Carroll D. Targeted genome engineering techniques in Drosophila. Methods. 2014 Jan 8. pii: S1046-2023(13)00455-6. PMID: 24412316.

Thursday, January 9, 2014

Alzheimer's disease-related A-beta toxicity transcriptomics study in flies

Favrin G, Bean DM, Bilsland E, Boyer H, Fischer BE, Russell S, Crowther DC, Baylis HA, Oliver SG, Giannakou ME. Identification of novel modifiers of Aβ toxicity by transcriptomic analysis in the fruitfly. Sci Rep. 2013 Dec 16;3:3512. PMID: 24336499; PMCID: PMC3863820.

New reports related to ALS

Shahidullah M, Le Marchand SJ, Fei H, Zhang J, Pandey UB, Dalva MB, Pasinelli P, Levitan IB. Defects in Synapse Structure and Function Precede Motor Neuron Degeneration in Drosophila Models of FUS-Related ALS. J Neurosci. 2013 Dec 11;33(50):19590-8. PMID: 24336723; PMCID: PMC3858628.

Kim HJ, Raphael AR, Ladow ES, McGurk L, Weber RA, Trojanowski JQ, Lee VM, Finkbeiner S, Gitler AD, Bonini NM. Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models. Nat Genet. 2013 Dec 15. PMID: 24336168.

Flies & kidney disease

Tutor AS, Prieto-Sánchez S, Ruiz-Gómez M. Src64B phosphorylates Dumbfounded and regulates slit diaphragm dynamics: Drosophila as a model to study nephropathies. Development. 2013 Dec 11. PMID: 24335255.

Ionic channel disease. New fly model.

Kaneko M, Desai BS, Cook B. Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases. Nat Genet. 2013 Dec 15. PMID: 24336169.