Poor is my work, but it has been as intense and original as my slender talents permitted. |
Cauchi R. J., 2024 SCFD1 in amyotrophic lateral sclerosis: reconciling a genetic association with in vivo functional analysis. Neural Regen Res 19: 1201–1202.
|
Herrera P, Cauchi RJ. Functional characterisation of the ACE2 orthologues in Drosophila provides insights into the neuromuscular complications of COVID-19. Biochim Biophys Acta Mol Basis Dis. 2023 Jul 24;1869(8):166818.
|
Servettini I, Talani G, Megaro A, Setzu MD, Biggio F, Briffa M, Guglielmi L, Savalli N, Binda F, Delicata F, Bru-Mercier G, Vassallo N, Maglione V, Cauchi RJ, Di Pardo A, Collu M, Imbrici P, Catacuzzeno L, D'Adamo MC, Olcese R, Pessia M. An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1. Proc Natl Acad Sci U S A. 2023 Aug;120(31):e2207978120.
|
Borg R, Herrera P, Purkiss A, Cacciottolo R, Cauchi RJ. Reduced levels of ALS gene DCTN1 induce motor defects in Drosophila. Front Neurosci. 2023 Jun 9;17:1164251.
|
Borg R, Purkiss A, Cacciottolo R, Herrera P, Cauchi RJ. Loss of amyotrophic lateral sclerosis risk factor SCFD1 causes motor dysfunction in Drosophila. Neurobiol Aging. 2023 Feb 21;126:67-76.
|
Farrugia Wismayer M, Farrugia Wismayer A, Borg R, Bonavia K, Abela A, Chircop C, Aquilina J, Soler D, Pace A, Vella M, Vassallo N, Cauchi RJ. Genetic landscape of ALS in Malta based on a quinquennial analysis. Neurobiol Aging. 2022 Nov 23:S0197-4580(22)00241-X.
|
Farrugia M, Vassallo N, Cauchi RJ. Disruption of Survival Motor Neuron in Glia Impacts Survival but has no Effect on Neuromuscular Function in Drosophila. Neuroscience. 2022 Mar 21:S0306-4522(22)00129-4.
|
Hop P. J., Zwamborn R. A. J., Hannon E., Shireby G. L., Nabais M. F., Walker E. M., van Rheenen W., van Vugt J. J. F. A. ... Cauchi R. J. ... Al-Chalabi A., Van Damme P., Veldink J. H., Mill J. 2022 Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Sci Transl Med 14: eabj0264.
|
van Rheenen W., van der Spek R. A. A., Bakker M. K., van Vugt J. J. F. A., Hop P. J., Zwamborn R. A. J. ... Cauchi R. J., ... Al-Chalabi A., Van Damme P., van den Berg L. H., Veldink J. H. 2021 Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat Genet 53: 1636–1648.
|
Herrera P., Cauchi R. J., 2021 ACE and ACE2: insights from Drosophila and implications for COVID-19. Heliyon 7: e08555.
|
Farrugia Wismayer M., Farrugia Wismayer A., Pace A., Vassallo N., Cauchi R. J., 2021 SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo. Eur J Hum Genet: 1–4.
|
Farrugia Wismayer M., Borg R., Farrugia Wismayer A., Bonavia K., Vella M., Pace A., Vassallo N., Cauchi R.J., 2021 Occupation and amyotrophic lateral sclerosis risk: a case-control study in the isolated island population of Malta. Amyotroph Lateral Scler Frontotemporal Degener: Apr 6:1-7.
|
Caruana M., Camilleri A., Farrugia M.Y., Ghio S., Jakubíčková M., Cauchi R.J., Vassallo N., 2021 Extract from the Marine Seaweed Padina pavonica Protects Mitochondrial Biomembranes from Damage by Amyloidogenic Peptides. Molecules: Mar 7;26(5):1444.
|
Borg R., Farrugia Wismayer M., Bonavia K., Farrugia Wismayer A., Vella M., van Vugt J. J. F. A., Kenna B. J., Kenna K. P., Vassallo N., Veldink J. H., Cauchi R. J., 2021 Genetic analysis of ALS cases in the isolated island population of Malta. Eur J Hum Genet: 1–11.
|
Farrugia M. Y., Caruana M., Ghio S., Camilleri A., Farrugia C., Cauchi R. J., Cappelli S., Chiti F., Vassallo N., 2020 Toxic oligomers of the amyloidogenic HypF-N protein form pores in mitochondrial membranes. Sci Rep 10: 17733–15.
|
Antoine M., Patrick K. L., Soret J., Duc P., Rage F., Cacciottolo R., Nissen K. E., Cauchi R. J., Krogan N. J., Guthrie C., Gachet Y., Bordonné R., 2019 Splicing Defects of the Profilin Gene Alter Actin Dynamics in an S. pombe SMN Mutant. iScience 23: 100809.
|
Cacciottolo R., Ciantar J., Lanfranco M., Borg R. M., Vassallo N., Bordonné R., Cauchi R. J., 2019 SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1. Sci Rep 9: 18666–19.
|
Camilleri A., Ghio S., Caruana M., Weckbecker D., Schmidt F., Kamp F., Leonov A., Ryazanov S., Griesinger C., Giese A., Cauchi R. J., Vassallo N., 2019 Tau-induced mitochondrial membrane perturbation is dependent upon cardiolipin. Biochim Biophys Acta Biomembr: 183064.
|
Ghio S., Camilleri A., Caruana M., Ruf V. C., Schmidt F., Leonov A., Ryazanov S., Griesinger C., Cauchi R. J., Kamp F., Giese A., Vassallo N., 2019 Cardiolipin Promotes Pore-Forming Activity of Alpha-Synuclein Oligomers in Mitochondrial Membranes. ACS Chem Neurosci 10: 3815–3829.
|
Aquilina B., Cauchi R. J., 2018 Genetic screen identifies a requirement for SMN in mRNA localisation within the Drosophila oocyte. BMC Res Notes 11: 378.
|
Aquilina B., Cauchi R. J., 2018 Modelling Motor Neuron Disease in Fruit Flies: Lessons from Spinal Muscular Atrophy. J. Neurosci. Methods 310: 3–11.
|
Curmi F., Cauchi R. J., 2018 The multiple lives of DEAD-box RNA helicase DP103/DDX20/Gemin3. Biochem Soc Trans 46: 329-341.
|
Lanfranco M., Cacciottolo R., Borg R. M., Vassallo N., Juge F., Bordonné R., Cauchi R. J., 2017 Novel interactors of the Drosophila Survival Motor Neuron (SMN) Complex suggest its full conservation. FEBS Lett 591: 3600–3614.
|
Lanfranco M., Vassallo N., Cauchi R. J., 2017 Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction. Front. Mol. Biosci. 4: 41.
|
Aquilina B., Cauchi R. J., 2017 Tourette Syndrome: Do Reduced Histamine Levels Induce an Increase in Spontaneous Repetitive Behaviour? Xjenza 4: 30–35.
|
Briffa M., Ghio S., Neuner J., Gauci A. J., Cacciottolo R., Marchal C., Caruana M., Cullin C., Vassallo N., Cauchi R. J., 2016 Extracts from two ubiquitous Mediterranean plants ameliorate cellular and animal models of neurodegenerative proteinopathies. Neurosci. Lett. 638: 12–20.
|
Caruana M., Cauchi R., Vassallo N., 2016 Putative Role of Red Wine Polyphenols against Brain Pathology in Alzheimer’s and Parkinson’s Disease. Front. Nutr. 3: 31.
|
Borg R. M., Salerno B. F., Vassallo N., Bordonné R., Cauchi R. J., 2016 Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila, providing new insights into spinal muscular atrophy. Neurobiol Dis 94: 245–258.
|
Ghio S., Kamp F., Cauchi R., Giese A., Vassallo N., 2015 Interaction of α-synuclein with biomembranes in Parkinson's disease -role of cardiolipin. Prog. Lipid Res. 61: 73–82.
|
Borg R. M., Bordonné R., Vassallo N., Cauchi R. J., 2015 Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila. PLoS ONE 10: e0130974.
|
Cauchi R. J., 2014 Gem depletion: amyotrophic lateral sclerosis and spinal muscular atrophy crossover. CNS Neurosci Ther 20: 574–581.
|
Borg R., Cauchi R. J., 2014 GEMINs: potential therapeutic targets for spinal muscular atrophy? Front Neurosci 8: 325.
|
Briffa M., Vassallo N., Cauchi R. J., 2014 A fruitful fly forward: the role of the fly in drug discovery for neurodegeneration. Xjenza 2: 115–126.
|
Borg R., Cauchi R. J., 2013 The Gemin associates of survival motor neuron are required for motor function in Drosophila. PLoS ONE 8: e83878.
|
Cauchi R. J., Tárnok Z., 2012 Genetic animal models of Tourette syndrome: The long and winding road from lab to clinic. Translat. Neurosci. 3: 153–159.
|
Cauchi R. J., 2012 Conserved requirement for DEAD-box RNA helicase Gemin3 in Drosophila oogenesis. BMC Res Notes 5: 120.
|
Cauchi R. J., 2011 Gem formation upon constitutive Gemin3 overexpression in Drosophila. Cell Biol Int 35: 1233–1238.
|
Cauchi R. J., 2010 SMN and Gemins: “we are family” … or are we?: insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN. Bioessays 32: 1077–1089.
|
Cauchi R. J., Sanchez-Pulido L., Liu J.-L., 2010 Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies. Exp Cell Res 316: 2354–2364.
|
Cauchi R. J., Davies K. E., Liu J.-L., 2008 A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila. PLoS Genet 4: e1000265.
|
Lee S., Sayin A., Cauchi R. J., Grice S., Burdett H., Baban D., van den Heuvel M., 2008 Genome-wide expression analysis of a spinal muscular atrophy model: towards discovery of new drug targets. PLoS ONE 3: e1404.
|
Cauchi R. J., van den Heuvel M., 2006 The fly as a model for neurodegenerative diseases: is it worth the jump? Neurodegener Dis. 3: 338–356.
|
Books
Drosophila melanogaster Models of Motor Neuron Disease
Motor neuron diseases are the most catastrophic of neurodegenerative disorders. The cognitive function is spared, but the motor neuron degeneration translates into progressive muscle weakness and paralysis that propel the afflicted patient to eventual death.
Neurodegenerative disorders constitute one of the major challenges of modern medicine in view of the current lack of effective therapies.
The fruit fly, Drosophila melanogaster, has a distinguished history as an important model organism capable of shaping our fundamental understanding of life. Remarkably, the vast majority of all known human disease genes have a similar fly counterpart and at the molecular and physiological level, the basic principles of neuromuscular function are amazingly conserved between humans and Drosophila. Combine this with the presence of numerous genetic tools developed over the last century allowing genes and the proteins they encode to be manipulated swiftly to decipher their in vivo function and you have a superb genetic animal model organism of disease.
This publication singles out the past and recent accomplishments of Drosophila in modelling motor neuron disease including amyotrophic lateral sclerosis (Lou Gehrig’s disease), hereditary spastic paraplegias, Charcot-Marie-Tooth disease, spinal and bulbar muscular atrophy (Kennedy’s disease) and spinal muscular atrophy.
The emphasis is on recent developments including the emerging molecular pathways underpinning these disorders. Genetic screens aimed at identifying novel genes that cause motor neuron degeneration or finding modifiers of the phenotype resulting from the disruption of disease-causative genes are also tackled.
Importantly, this collection provides an inspiring look at the indispensability of the fruit fly, and of model organisms in general, to neuroscience research.
Imprint: Nova Biomedical
Series: Neurodegenerative Diseases - Laboratory and Clinical Research
ISBN: 978-1-62618-747-4
Neurodegenerative disorders constitute one of the major challenges of modern medicine in view of the current lack of effective therapies.
The fruit fly, Drosophila melanogaster, has a distinguished history as an important model organism capable of shaping our fundamental understanding of life. Remarkably, the vast majority of all known human disease genes have a similar fly counterpart and at the molecular and physiological level, the basic principles of neuromuscular function are amazingly conserved between humans and Drosophila. Combine this with the presence of numerous genetic tools developed over the last century allowing genes and the proteins they encode to be manipulated swiftly to decipher their in vivo function and you have a superb genetic animal model organism of disease.
This publication singles out the past and recent accomplishments of Drosophila in modelling motor neuron disease including amyotrophic lateral sclerosis (Lou Gehrig’s disease), hereditary spastic paraplegias, Charcot-Marie-Tooth disease, spinal and bulbar muscular atrophy (Kennedy’s disease) and spinal muscular atrophy.
The emphasis is on recent developments including the emerging molecular pathways underpinning these disorders. Genetic screens aimed at identifying novel genes that cause motor neuron degeneration or finding modifiers of the phenotype resulting from the disruption of disease-causative genes are also tackled.
Importantly, this collection provides an inspiring look at the indispensability of the fruit fly, and of model organisms in general, to neuroscience research.
Imprint: Nova Biomedical
Series: Neurodegenerative Diseases - Laboratory and Clinical Research
ISBN: 978-1-62618-747-4
CONTENTS
Preface
A Responsible Choice of Model Organism
Editor: Ruben J. Cauchi
Department of Physiology & Biochemistry, Faculty of Medicine & Surgery, University of Malta, Malta
Chapter 1
Genetics of Motor Neuron Disorders: From Gene Diversity to Common Cellular Conspirators in Selective Neuronal Killing (pp. 1-34)
Authors: Rebecca K. Sheean & Bradley J. Turner
Florey Institute of Neuroscience & Mental Health, University of Melbourne, Australia
Chapter 2
A Secreted Ligand for Growth Cone Receptors, VAP Mediates the Cellular Pathological Defects in ALS (pp. 35-56)
Authors: Amina Moustaqim-Barrette, Mario Maira & Hiroshi Tsuda
Department of Neurology and Neurosurgery, McGill University, Canada
Chapter 3
Flies in Motion: What Drosophila can tell us about Amyotrophic Lateral Sclerosis (pp. 57-84)
Authors: Andrees A. Morera, Alyssa Coyne & Daniela C. Zarnescu
Departments of Molecular and Cellular Biology, Neuroscience and Neurology, University of Arizona, Tucson, AZ, USA
Chapter 4
Maintaining Long Supply Lines: Axon Degeneration and the Function of Hereditary Spastic Paraplegia Genes in Drosophila (pp. 85-120)
Authors: Belgin Yalçýn & Cahir J. O’Kane
Department of Genetics, University of Cambridge, UK
Chapter 5
Drosophila as a Model for CMT Peripheral Neuropathy: Mutations in tRNA Synthetases as an Example (pp. 121-146)
Authors: Georg Steffes & Erik Storkebaum
Molecular Neurogenetics Laboratory, Max Planck Institute for Molecular Biomedicine, Germany
Chapter 6
Lessons from Drosophila in Neurodegeneration: Mechanisms of Toxicity and Therapeutic Targets in Spinal and Bulbar Muscular Atrophy (pp. 147-170)
Author: Adrienne M. Wang
Department of Pathology, University of Washington, Seattle, WA, USA
Chapter 7
Spinal Muscular Atrophy: Insights from the Fruit Fly (pp. 171-184)
Authors: Stuart J. Grice*, Kavita Praveen#, A. Gregory Matera# & Ji-Long Liu*
* MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, UK
# Curriculum in Genetics and Molecular Biology, Department of Biology, Department of Genetics, Program in Molecular Biology and Biotechnology, University of North Carolina, USA
Chapter 8
Genetic Screens in Drosophila and their Application in Motor Neuron Disease Models (pp. 185-110)
Authors: Liya E. Jose, Patrik Verstreken & Sven Vilain
VIB Center for The Biology of Disease, Leuven, Belgium
Preface
A Responsible Choice of Model Organism
Editor: Ruben J. Cauchi
Department of Physiology & Biochemistry, Faculty of Medicine & Surgery, University of Malta, Malta
Chapter 1
Genetics of Motor Neuron Disorders: From Gene Diversity to Common Cellular Conspirators in Selective Neuronal Killing (pp. 1-34)
Authors: Rebecca K. Sheean & Bradley J. Turner
Florey Institute of Neuroscience & Mental Health, University of Melbourne, Australia
Chapter 2
A Secreted Ligand for Growth Cone Receptors, VAP Mediates the Cellular Pathological Defects in ALS (pp. 35-56)
Authors: Amina Moustaqim-Barrette, Mario Maira & Hiroshi Tsuda
Department of Neurology and Neurosurgery, McGill University, Canada
Chapter 3
Flies in Motion: What Drosophila can tell us about Amyotrophic Lateral Sclerosis (pp. 57-84)
Authors: Andrees A. Morera, Alyssa Coyne & Daniela C. Zarnescu
Departments of Molecular and Cellular Biology, Neuroscience and Neurology, University of Arizona, Tucson, AZ, USA
Chapter 4
Maintaining Long Supply Lines: Axon Degeneration and the Function of Hereditary Spastic Paraplegia Genes in Drosophila (pp. 85-120)
Authors: Belgin Yalçýn & Cahir J. O’Kane
Department of Genetics, University of Cambridge, UK
Chapter 5
Drosophila as a Model for CMT Peripheral Neuropathy: Mutations in tRNA Synthetases as an Example (pp. 121-146)
Authors: Georg Steffes & Erik Storkebaum
Molecular Neurogenetics Laboratory, Max Planck Institute for Molecular Biomedicine, Germany
Chapter 6
Lessons from Drosophila in Neurodegeneration: Mechanisms of Toxicity and Therapeutic Targets in Spinal and Bulbar Muscular Atrophy (pp. 147-170)
Author: Adrienne M. Wang
Department of Pathology, University of Washington, Seattle, WA, USA
Chapter 7
Spinal Muscular Atrophy: Insights from the Fruit Fly (pp. 171-184)
Authors: Stuart J. Grice*, Kavita Praveen#, A. Gregory Matera# & Ji-Long Liu*
* MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, UK
# Curriculum in Genetics and Molecular Biology, Department of Biology, Department of Genetics, Program in Molecular Biology and Biotechnology, University of North Carolina, USA
Chapter 8
Genetic Screens in Drosophila and their Application in Motor Neuron Disease Models (pp. 185-110)
Authors: Liya E. Jose, Patrik Verstreken & Sven Vilain
VIB Center for The Biology of Disease, Leuven, Belgium
Copyright © ALS/MND LAB
Dept. of Physiology & Biochemistry
Faculty of Medicine & Surgery
Centre for Molecular Medicine & Biobanking
UN I V E R S I T Y O F M A L T A
Dept. of Physiology & Biochemistry
Faculty of Medicine & Surgery
Centre for Molecular Medicine & Biobanking
UN I V E R S I T Y O F M A L T A
The opinions and statements expressed in this website do not necessarily reflect the view of the University of Malta