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Drosophila human disease

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https://www.readbyqxmd.com/read/28640802/peroxisomal-biogenesis-is-genetically-and-biochemically-linked-to-carbohydrate-metabolism-in-drosophila-and-mouse
#1
Michael F Wangler, Yu-Hsin Chao, Vafa Bayat, Nikolaos Giagtzoglou, Abhijit Babaji Shinde, Nagireddy Putluri, Cristian Coarfa, Taraka Donti, Brett H Graham, Joseph E Faust, James A McNew, Ann Moser, Marco Sardiello, Myriam Baes, Hugo J Bellen
Peroxisome biogenesis disorders (PBD) are a group of multi-system human diseases due to mutations in the PEX genes that are responsible for peroxisome assembly and function. These disorders lead to global defects in peroxisomal function and result in severe brain, liver, bone and kidney disease. In order to study their pathogenesis we undertook a systematic genetic and biochemical study of Drosophila pex16 and pex2 mutants. These mutants are short-lived with defects in locomotion and activity. Moreover these mutants exhibit severe morphologic and functional peroxisomal defects...
June 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28636161/infinity-sperm-storage-the-gift-that-keeps-on-giving
#2
Gauthier Schang, Beatriz Fernandez-Fuertes, Samantha C Lean, Alexandra L Nguyen, Osvaldo Bogado Pascottini
Female Drosophila retain sperm for up to two weeks post-copulation in a network of storage organs includng the bursa, the seminal receptacle, and the spermathecae. This image shows the seminal receptacle of a Drosophila melanogaster female, 2-hrs post-copulation between a LHM (wild-type) female with a Protamine B (green), β-Tubulin (blue) fluorescently tagged male, whose sperm can be visualized within the female. This 'infinity' structure of the seminal receptacle resembles the tubular coil that allows for the storage of very long sperm relative to female body size -up to 20 times the length of the female in some Drosophila species...
June 21, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/28625786/drug-induces-depression-like-phenotypes-and-alters-gene-expression-profiles-in-drosophila
#3
Ming-Di Jiang, Ya Zheng, Jia-Lin Wang, Yu-Feng Wang
BACKGROUND: Major depressive disorder (MDD) is a severe mental illness that affects more than 350 million people worldwide. However, the molecular mechanisms of depression are currently unclear. Studies suggest that Drosophila and humans have similar depression-like symptoms under pressure. In this research, we choose Drosophila melanogaster as the animal model to explore the molecular mechanisms that trigger depression. RESULTS: We found that feeding D. melanogaster with the medium containing Levodopa or Chlorpromazine could induce depression-like phenotypes in both behavioral and biochemical biomarkers, including significantly decreased food intake, mating frequency, serotonin (5-HT) concentration, and increased malondialdehyde (MDA) concentration as well as reduced activity of superoxide dismutase (SOD)...
June 15, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28623239/-ccug-n-rna-toxicity-in-a-drosophila-model-for-myotonic-dystrophy-type-2-dm2-activates-apoptosis
#4
Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma García-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo López Castel, Ralf Krahe, Andreas Bergmann
The myotonic dystrophies are prototypic toxic RNA gain-of-function diseases. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by different unstable, noncoding microsatellite repeat expansions -- (CTG)DM1 in DMPK and (CCTG)DM2 in CNBP Although transcription of mutant repeats into (CUG)DM1 or (CCUG)DM2 appears to be necessary and sufficient to cause disease, their pathomechanisms remain incompletely understood. To study the mechanisms of (CCUG)DM2 toxicity and develop a convenient model for drug screening, we generated a transgenic DM2 model in the fruit fly Drosophila melanogaster with (CCUG)n repeats of variable length (n=16 and 106)...
June 16, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28621416/all-in-one-integrating-cell-polarity-meiosis-mitosis-and-mechanical-forces-in-early-oocyte-differentiation-in-vertebrates
#5
Yaniv M Elkouby
While the differentiation of oocytes is key for embryonic development, and its investigation is crucial for advancing our understanding of human reproduction and fertility, many fundamental questions in oogenesis have been long standing. However, recent technical advances have led to several breakthroughs mainly in mice and zebrafish. Here I review these recent findings, including regulation and organization of the germline cyst, the mechanistics of chromosomal pairing, establishment of cell polarity, and formation of a universal mRNA-protein (mRNP) granule called the Balbiani body...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28620943/drug-repurposing-for-aging-research-using-model-organisms
#6
Matthias Ziehm, Satwant Kaur, Dobril K Ivanov, Pedro J Ballester, David Marcus, Linda Partridge, Janet M Thornton
Many increasingly prevalent diseases share a common risk factor: age. However, little is known about pharmaceutical interventions against aging, despite many genes and pathways shown to be important in the aging process and numerous studies demonstrating that genetic interventions can lead to a healthier aging phenotype. An important challenge is to assess the potential to repurpose existing drugs for initial testing on model organisms, where such experiments are possible. To this end, we present a new approach to rank drug-like compounds with known mammalian targets according to their likelihood to modulate aging in the invertebrates Caenorhabditis elegans and Drosophila...
June 16, 2017: Aging Cell
https://www.readbyqxmd.com/read/28620760/notch-an-interactive-player-in-neurogenesis-and-disease
#7
REVIEW
Runrui Zhang, Anna Engler, Verdon Taylor
Notch signaling is evolutionarily conserved from Drosophila to human. It plays critical roles in neural stem cell maintenance and neurogenesis in the embryonic brain as well as in the adult brain. Notch functions greatly depend on careful regulation and cross-talk with other regulatory mechanisms. Deregulation of Notch signaling is involved in many neurodegenerative diseases and brain disorders. Here, we summarize the fundamental role of Notch in neuronal development and specification and discuss how epigenetic regulation and pathway cross-talk contribute to Notch function...
June 15, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28615189/bar-coding-neurodegeneration-identifying-sub-cellular-effects-of-human-neurodegenerative-disease-proteins-using-drosophila-leg-neurons
#8
Josefin Fernius, Annika Starkenberg, Stefan Thor
Genetic, biochemical and histological studies have identified a number of different proteins as key drivers of human neurodegenerative diseases. Whereas different proteins are typically involved in different disease, there is also considerable overlap. Addressing disease protein dysfunction in an in vivo neuronal context is often time-consuming and requires labor-intensive analysis of transgenic models. To facilitate the rapid, cellular analysis of disease protein dysfunction, we have developed a fruit fly (Drosophila melanogaster) adult leg neuron assay...
June 14, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28589937/loss-of-parkinson-s-disease-associated-protein-chchd2-affects-mitochondrial-crista-structure-and-destabilizes-cytochrome-c
#9
Hongrui Meng, Chikara Yamashita, Kahori Shiba-Fukushima, Tsuyoshi Inoshita, Manabu Funayama, Shigeto Sato, Tomohisa Hatta, Tohru Natsume, Masataka Umitsu, Junichi Takagi, Yuzuru Imai, Nobutaka Hattori
Mutations in CHCHD2 have been identified in some Parkinson's disease (PD) cases. To understand the physiological and pathological roles of CHCHD2, we manipulated the expression of CHCHD2 in Drosophila and mammalian cells. The loss of CHCHD2 in Drosophila causes abnormal matrix structures and impaired oxygen respiration in mitochondria, leading to oxidative stress, dopaminergic neuron loss and motor dysfunction with age. These PD-associated phenotypes are rescued by the overexpression of the translation inhibitor 4E-BP and by the introduction of human CHCHD2 but not its PD-associated mutants...
June 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28580197/transposable-elements-in-drosophila
#10
REVIEW
Tabitha J McCullers, Mindy Steiniger
Transposable elements (TEs) are mobile genetic elements that can mobilize within host genomes. As TEs comprise more than 40% of the human genome and are linked to numerous diseases, understanding their mechanisms of mobilization and regulation is important. Drosophila melanogaster is an ideal model organism for the study of eukaryotic TEs as its genome contains a diverse array of active TEs. TEs universally impact host genome size via transposition and deletion events, but may also adopt unique functional roles in host organisms...
2017: Mobile Genetic Elements
https://www.readbyqxmd.com/read/28580046/characterization-of-microfluidic-clamps-for-immobilizing-and-imaging-of-drosophila-melanogaster-larva-s-central-nervous-system
#11
Reza Ghaemi, Pouya Rezai, Fatemeh Rafiei Nejad, Ponnambalam Ravi Selvaganapathy
Drosophila melanogaster is a well-established model organism to understand biological processes and study human diseases at the molecular-genetic level. The central nervous system (CNS) of Drosophila larvae is widely used as a model to study neuron development and network formation. This has been achieved by using various genetic manipulation tools such as microinjection to knock down certain genes or over-express proteins for visualizing the cellular activities. However, visualization of an intact-live neuronal response in larva's Central Nervous System (CNS) is challenging due to robust digging/burrowing behaviour that impedes neuroimaging...
May 2017: Biomicrofluidics
https://www.readbyqxmd.com/read/28579450/drosophila-short-stop-as-a-paradigm-for-the-role-and-regulation-of-spectraplakins
#12
REVIEW
Andre Voelzmann, Yu-Ting Liew, Yue Qu, Ines Hahn, Cristina Melero, Natalia Sánchez-Soriano, Andreas Prokop
Spectraplakins are evolutionarily well conserved cytoskeletal linker molecules that are true members of three protein families: plakins, spectrins and Gas2-like proteins. Spectraplakin genes encode at least 7 characteristic functional domains which are combined in a modular fashion into multiple isoforms, and which are responsible for an enormous breadth of cellular functions. These functions are related to the regulation of actin, microtubules, intermediate filaments, intracellular organelles, cell adhesions and signalling processes during the development and maintenance of a wide variety of tissues...
June 1, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28552182/altered-protein-glycosylation-predicts-alzheimer-s-disease-and-modulates-its-pathology-in-disease-model-drosophila
#13
Moran Frenkel-Pinter, Shiri Stempler, Sharon Tal-Mazaki, Yelena Losev, Avnika Singh-Anand, Daniela Escobar-Álvarez, Jonathan Lezmy, Ehud Gazit, Eytan Ruppin, Daniel Segal
The pathological hallmarks of Alzheimer's disease (AD) are pathogenic oligomers and fibrils of misfolded amyloidogenic proteins (e.g., β-amyloid and hyper-phosphorylated tau in AD), which cause progressive loss of neurons in the brain and nervous system. Although deviations from normal protein glycosylation have been documented in AD, their role in disease pathology has been barely explored. Here our analysis of available expression data sets indicates that many glycosylation-related genes are differentially expressed in brains of AD patients compared with healthy controls...
May 3, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28542428/age-dependent-electrical-and-morphological-remodeling-of-the-drosophila-heart-caused-by-herg-seizure-mutations
#14
Karen Ocorr, Alexander Zambon, Yoav Nudell, Santiago Pineda, Soda Diop, Min Tang, Takeshi Akasaka, Erika Taylor
Understanding the cellular-molecular substrates of heart disease is key to the development of cardiac specific therapies and to the prevention of off-target effects by non-cardiac targeted drugs. One of the primary targets for therapeutic intervention has been the human ether a go-go (hERG) K+ channel that, together with the KCNQ channel, controls the rate and efficiency of repolarization in human myocardial cells. Neither of these channels plays a major role in adult mouse heart function; however, we show here that the hERG homolog seizure (sei), along with KCNQ, both contribute significantly to adult heart function as they do in humans...
May 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28541527/sleep-dependent-modulation-of-metabolic-rate-in-drosophila
#15
Bethany A Stahl, Melissa E Slocumb, Hersh Chaitin, Justin R Diangelo, Alex C Keene
Dysregulation of sleep is associated with metabolic diseases, and metabolic rate is acutely regulated by sleep-wake behavior. In humans and rodent models, sleep loss is associated with obesity, reduced metabolic rate, and negative energy balance, yet little is known about the neural mechanisms governing interactions between sleep and metabolism. We have developed a system to simultaneously measure sleep and metabolic rate in individual Drosophila, allowing for interrogation of neural systems governing interactions between sleep and metabolic rate...
May 25, 2017: Sleep
https://www.readbyqxmd.com/read/28541509/evidence-that-phosphorylated-ubiquitin-signaling-is-involved-in-the-etiology-of-parkinson-s-disease
#16
Kahori Shiba-Fukushima, Kei-Ichi Ishikawa, Tsuyoshi Inoshita, Nana Izawa, Masashi Takanashi, Shigeto Sato, Osamu Onodera, Wado Akamatsu, Hideyuki Okano, Yuzuru Imai, Nobutaka Hattori
The ubiquitin (Ub) kinase PINK1 and the E3 Ub ligase Parkin, two gene products associated with young-onset Parkinson's disease (PD), participate in mitochondrial quality control. The phosphorylation of mitochondrial polyUb by PINK1, which is activated in a mitochondrial membrane potential (ΔΨm)-dependent manner, facilitates the mitochondrial translocation and concomitant enzymatic activation of Parkin, leading to the clearance of phospho-polyUb-tagged mitochondria via mitophagy. Thus, Ub phosphorylation is a key event in PINK1-Parkin-mediated mitophagy...
May 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28529046/targeted-downregulation-of-dmyc-restricts-neurofibrillary-tangles-mediated-pathogenesis-of-human-neuronal-tauopathies-in-drosophila
#17
Soram Idiyasan Chanu, Surajit Sarkar
Formation of Neurofibrillary Tangles (NFTs) in neuronal tissues has been implicated as the hallmark of disease pathogenesis and tau mediated toxicity in human and mammalian models. However, previous studies had failed to correlate NFT formation with pathogenesis of human neuronal tauopathies in Drosophila disease models. Though, a recent report suggests formation of tau mediated NFTs like structures confined to dopaminergic neurons in Drosophila adult brain, by utilizing various approaches, we demonstrate distinct and recurrent formation of NFTs in Drosophila neuronal tissues upon expression of wild type or mutant isoforms of human tau, and this appears as the key mediator of the pathogenesis of human neuronal tauopathy in Drosophila...
May 18, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28523286/synthetic-lethality-screens-using-rnai-in-combination-with-crispr-based-knockout-in-drosophila-cells
#18
Benjamin E Housden, Hilary E Nicholson, Norbert Perrimon
A synthetic lethal interaction is a type of genetic interaction where the disruption of either of two genes individually has little effect but their combined disruption is lethal. Knowledge of synthetic lethal interactions can allow for elucidation of network structure and identification of candidate drug targets for human diseases such as cancer. In Drosophila, combinatorial gene disruption has been achieved previously by combining multiple RNAi reagents. Here we describe a protocol for high-throughput combinatorial gene disruption by combining CRISPR and RNAi...
February 5, 2017: Bio-protocol
https://www.readbyqxmd.com/read/28515229/unique-cell-biological-profiles-of-retinal-disease-causing-missense-mutations-in-the-polarity-protein-crumbs
#19
Milena Pellikka, Ulrich Tepass
Mutations in human CRB1 are a major cause of retinal disease that lead to blindness. CRB1 is a transmembrane protein found in the inner segment of photoreceptor cells (PRCs) and the apical membrane of Müller glia. The function of the extracellular region of CRB1 is poorly understood although more than 80 disease-causing missense mutations have been mapped to it. We have recreated four mutations in Drosophila Crumbs (Crb) that affect different extracellular domains. Crb regulates epithelial polarity and growth, and contributes to PRC differentiation and survival...
May 17, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28512194/ancient-antagonism-between-celf-and-rbfox-families-tunes-mrna-splicing-outcomes
#20
Matthew R Gazzara, Michael J Mallory, Renat Roytenberg, John Lindberg, Anupama Jha, Kristen W Lynch, Yoseph Barash
Over 95% of human multi-exon genes undergo alternative splicing, a process important in normal development and often dysregulated in disease. We sought to analyze the global splicing regulatory network of CELF2 in human T cells, a well-studied splicing regulator critical to T cell development and function. By integrating high-throughput sequencing data for binding and splicing quantification with sequence features and probabilistic splicing code models, we find evidence of splicing antagonism between CELF2 and the RBFOX family of splicing factors...
May 16, 2017: Genome Research
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