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Peripheral markers of autophagy in polyglutamine diseases

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A Correction to this article was published on 17 November 2017

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Abstract

Polyglutamine disorders are neurodegenerative diseases that share a CAG repeat expansion in the coding region, resulting in aggregated proteins that can be only degraded through aggrephagy. We measured the expression of autophagy genes in peripheral blood mononuclear cells of 20 patients with Huntington’s disease (HD), 20 with spinocerebellar ataxia type 2 (SCA2), and 20 healthy individuals. HD patients showed increased expression of MAP1LC3B (+ 43%; p = 0.048), SQSTM1 (+ 49%; p = 0.002), and WDFY3 (+ 89%; p < 0.001). SCA2 patients had increased expression of WDFY3 (+ 69%; p < 0.001). We show that peripheral markers of autophagy are elevated in polyQ diseases, and this is particularly evident in HD.

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Change history

  • 17 November 2017

    Dr. Peluso’s given name and family name were initially interchanged inadvertently. The correct names have been corrected above. The original article was corrected.

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Author notes

  1. Giorgia Puorro and Angela Marsili contributed equally to this work.

Authors and Affiliations

  1. Department of Neurosciences, Odontostomatological and Reproductive Sciences, University Federico II, Via Pansini, 5, 80131, Naples, NA, Italy

    Giorgia Puorro, Angela Marsili, Francesca Sapone, Chiara Pane, Anna De Rosa, Silvio Peluso, Giuseppe De Michele, Alessandro Filla & Francesco Saccà

Authors
  1. Giorgia Puorro
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  2. Angela Marsili
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  3. Francesca Sapone
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  4. Chiara Pane
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  5. Anna De Rosa
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  6. Silvio Peluso
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  7. Giuseppe De Michele
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  8. Alessandro Filla
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  9. Francesco Saccà
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Contributions

Giorgia Puorro: Design and conceptualization of the study, Analysis or interpretation of the data and Drafting or revising the manuscript for intellectual content. Angela Marsili: Design and conceptualization of the study and Analysis or interpretation of the data. Francesca Sapone: Design and conceptualization of the study and Analysis or interpretation of the data. Chiara Pane: Analysis or interpretation of the data and Drafting or revising the manuscript for intellectual content. Anna De Rosa: Drafting or revising the manuscript for intellectual content. Peluso Silvio: Drafting or revising the manuscript for intellectual content. Giuseppe De Michele: Drafting or revising the manuscript for intellectual content. Alessandro Filla: Design and conceptualization of the study and Drafting or revising the manuscript for intellectual content. Francesco Saccà: Design and conceptualization of the study, Analysis or interpretation of the data and Drafting or revising the manuscript for intellectual content

Corresponding author

Correspondence to Francesco Saccà.

Ethics declarations

The local Ethics Committee of our institution approved the study (262/13). All patients gave written informed consent before any study activity.

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

The original version of this article was revised: Dr. Peluso’s given name and family name were initially interchanged inadvertently.

A correction to this article is available online at https://doi.org/10.1007/s10072-017-3193-1.

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Puorro, G., Marsili, A., Sapone, F. et al. Peripheral markers of autophagy in polyglutamine diseases. Neurol Sci 39, 149–152 (2018). https://doi.org/10.1007/s10072-017-3156-6

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  • DOI: https://doi.org/10.1007/s10072-017-3156-6

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