Literature DB >> 32940403

Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy.

Rebecca Meyer-Schuman1, Anthony Antonellis1,2.   

Abstract

The pathogenic mechanism of neuropathy-associated aminoacyl-tRNA synthetase (ARS) gene variants is poorly defined. Mullen et al. generate new models of pathogenic, dominant HARS1 mutations and show that they increase eIF2α phosphorylation and decrease protein translation in neurons. These results are consistent with a dominant-negative mechanism of ARS-mediated peripheral neuropathy. Comment on: https://doi.org/10.1111/febs.15449.
© 2020 Federation of European Biochemical Societies.

Entities:  

Keywords:  HARS1; aminoacyl-tRNA synthetase; dominant-negative; peripheral neuropathy; protein translation

Year:  2020        PMID： 32940403      PMCID： PMC8027917          DOI： 10.1111/febs.15538

Source DB:  PubMed          Journal:  FEBS J        ISSN： 1742-464X            Impact factor:   5.542


  8 in total

Review 1.  Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.

Authors:  Rebecca Meyer-Schuman; Anthony Antonellis
Journal:  Hum Mol Genet       Date:  2017-10-01       Impact factor: 6.150

Review 2.  The role of aminoacyl-tRNA synthetases in genetic diseases.

Authors:  Anthony Antonellis; Eric D Green
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

3.  A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

Authors:  Aimée Vester; Gisselle Velez-Ruiz; Heather M McLaughlin; James R Lupski; Kevin Talbot; Jeffery M Vance; Stephan Züchner; Ricardo H Roda; Kenneth H Fischbeck; Leslie G Biesecker; Garth Nicholson; Asim A Beg; Anthony Antonellis
Journal:  Hum Mutat       Date:  2012-10-11       Impact factor: 4.878

4.  Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.

Authors:  Jamie A Abbott; Rebecca Meyer-Schuman; Vincenzo Lupo; Shawna Feely; Inès Mademan; Stephanie N Oprescu; Laurie B Griffin; M Antonia Alberti; Carlos Casasnovas; Sharon Aharoni; Lina Basel-Vanagaite; Stephan Züchner; Peter De Jonghe; Jonathan Baets; Michael E Shy; Carmen Espinós; Borries Demeler; Anthony Antonellis; Christopher Francklyn
Journal:  Hum Mutat       Date:  2017-12-26       Impact factor: 4.878

Review 5.  The Integrated Stress Response and Phosphorylated Eukaryotic Initiation Factor 2α in Neurodegeneration.

Authors:  Sarah Bond; Claudia Lopez-Lloreda; Patrick J Gannon; Cagla Akay-Espinoza; Kelly L Jordan-Sciutto
Journal:  J Neuropathol Exp Neurol       Date:  2020-02-01       Impact factor: 3.685

Review 6.  Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.

Authors:  Na Wei; Qian Zhang; Xiang-Lei Yang
Journal:  J Biol Chem       Date:  2019-01-14       Impact factor: 5.157

Review 7.  Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging.

Authors:  Molly E Kuo; Anthony Antonellis
Journal:  Trends Genet       Date:  2019-12-12       Impact factor: 11.639

8.  Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish.

Authors:  Patrick Mullen; Jamie A Abbott; Theresa Wellman; Mahafuza Aktar; Christian Fjeld; Borries Demeler; Alicia M Ebert; Christopher S Francklyn
Journal:  FEBS J       Date:  2020-07-06       Impact factor: 5.542
  8 in total
  1 in total

Review 1.  Usher Syndrome: Genetics of a Human Ciliopathy.

Authors:  Carla Fuster-García; Belén García-Bohórquez; Ana Rodríguez-Muñoz; Elena Aller; Teresa Jaijo; José M Millán; Gema García-García
Journal:  Int J Mol Sci       Date:  2021-06-23       Impact factor: 5.923
  1 in total

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