Literature DB >> 28502804

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models.

Maria Laura Di Giorgio1, Alessandro Esposito2, Paolo Maccallini1, Emanuela Micheli1, Francesca Bavasso1, Ivan Gallotta2, Fiammetta Vernì1, Fabian Feiguin3, Stefano Cacchione1, Brian D McCabe4, Elia Di Schiavi5, Grazia Daniela Raffa6.   

Abstract

SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death. Although SMN is required in every cell for proper RNA metabolism, the reason why its loss is especially critical in the motor system is still unclear. SMA genetic models have been employed to identify several modifiers that can ameliorate the deficits induced by SMN depletion. Here we focus on WDR79/TCAB1, a protein important for the biogenesis of several RNA species that has been shown to physically interact with SMN in human cells. We show that WDR79 depletion results in locomotion defects in both Drosophila and Caenorhabditis elegans similar to those elicited by SMN depletion. Consistent with this observation, we find that SMN overexpression rescues the WDR79 loss-of-function phenotype in flies. Most importantly, we also found that WDR79 overexpression ameliorates the locomotion defects induced by SMN depletion in both flies and worms. Our results collectively suggest that WDR79 and SMN play evolutionarily conserved cooperative functions in the nervous system and suggest that WDR79/TCAB1 may have the potential to modify SMA pathogenesis.
Copyright © 2017. Published by Elsevier Inc.

Entities:  

Keywords:  Caenorhabditis elegans; Drosophila melanogaster; SMA; SMN; WDR79/TCAB1

Mesh:

Substances:

Year:  2017        PMID: 28502804     DOI: 10.1016/j.nbd.2017.05.005

Source DB:  PubMed          Journal:  Neurobiol Dis        ISSN: 0969-9961            Impact factor:   5.996


  7 in total

1.  Automated screening of C. elegans neurodegeneration mutants enabled by microfluidics and image analysis algorithms.

Authors:  Ivan de Carlos Cáceres; Daniel A Porto; Ivan Gallotta; Pamela Santonicola; Josue Rodríguez-Cordero; Elia Di Schiavi; Hang Lu
Journal:  Integr Biol (Camb)       Date:  2018-09-17       Impact factor: 2.192

2.  Nuclear WRAP53 promotes neuronal survival and functional recovery after stroke.

Authors:  Irene Sánchez-Morán; Cristina Rodríguez; Rebeca Lapresa; Jesús Agulla; Tomás Sobrino; José Castillo; Juan P Bolaños; Angeles Almeida
Journal:  Sci Adv       Date:  2020-10-07       Impact factor: 14.136

Review 3.  Drosophila as a Model for Assessing the Function of RNA-Binding Proteins during Neurogenesis and Neurological Disease.

Authors:  Eugenia C Olesnicky; Ethan G Wright
Journal:  J Dev Biol       Date:  2018-08-18

4.  Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.

Authors:  Ann Nordgren; Marianne Farnebo; Sofie Bergstrand; Stefanie Böhm; Helena Malmgren; Anna Norberg; Mikael Sundin
Journal:  Cell Death Dis       Date:  2020-04-17       Impact factor: 8.469

5.  Intimate functional interactions between TGS1 and the Smn complex revealed by an analysis of the Drosophila eye development.

Authors:  Paolo Maccallini; Francesca Bavasso; Livia Scatolini; Elisabetta Bucciarelli; Gemma Noviello; Veronica Lisi; Valeria Palumbo; Simone D'Angeli; Stefano Cacchione; Giovanni Cenci; Laura Ciapponi; James G Wakefield; Maurizio Gatti; Grazia Daniela Raffa
Journal:  PLoS Genet       Date:  2020-05-26       Impact factor: 5.917

6.  Small Cajal body-associated RNA 2 (scaRNA2) regulates DNA repair pathway choice by inhibiting DNA-PK.

Authors:  Sofie Bergstrand; Eleanor M O'Brien; Christos Coucoravas; Dominika Hrossova; Dimitra Peirasmaki; Sandro Schmidli; Soniya Dhanjal; Chiara Pederiva; Lee Siggens; Oliver Mortusewicz; Julienne J O'Rourke; Marianne Farnebo
Journal:  Nat Commun       Date:  2022-02-23       Impact factor: 14.919

7.  Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy.

Authors:  Niko Hensel; Federica Cieri; Pamela Santonicola; Ines Tapken; Tobias Schüning; Michela Taiana; Elisa Pagliari; Antonia Joseph; Silke Fischer; Natascha Heidrich; Hella Brinkmann; Sabrina Kubinski; Anke K Bergmann; Manuela F Richter; Klaus Jung; Stefania Corti; Elia Di Schiavi; Peter Claus
Journal:  Proc Natl Acad Sci U S A       Date:  2021-05-04       Impact factor: 11.205

  7 in total

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