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Proteomics in the Diagnosis of Inborn Encephalopathies of Unknown Origin: A Myth or Reality

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Clinical Research Involving Pulmonary Disorders

Part of the book series: Advances in Experimental Medicine and Biology ((NR,volume 1040))

Abstract

Synaptopathy underlies a great variety of neurological or neurodevelopmental disorders, including neurodegenerative diseases and the highly complex neuropsychiatric syndromes. Standard diagnostic assays in the majority of synaptopathies are insufficient to make an appropriate and fast diagnosis, which has spurred a search for more accurate diagnostic methods using recent technological advances. As synaptopathy phenotypes strictly depend on genetics and environmental factors, the best way to approach these diseases is the investigation of entire sets of protein characteristics. Thus, proteomics has emerged as a mainstay in the studies on synaptopathies, with mass spectrometry as a technology of choice. This review is an update on the proteomic methods and achievements in the understanding, diagnostics, and novel biomarkers of synaptopathies. The article also provides a critical point of view and future perspectives on the application of neuroproteomics in clinical practice.

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The authors report no conflicts of interest in relation to this article.

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Authors and Affiliations

  1. Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, 63A Zwirki and Wigury Street, 02-091, Warsaw, Poland

    Anna Kupniewska & Urszula Demkow

  2. Department of Clinical and Experimental Neuropathology, The Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawińskiego Street, 02-106, Warsaw, Poland

    Krystyna Szymanska

  3. Department of Child Psychiatry, Warsaw Medical University, Warsaw, 24 Marszalkowska Street, 00-576, Warsaw, Poland

    Krystyna Szymanska

Authors
  1. Anna Kupniewska
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  2. Krystyna Szymanska
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  3. Urszula Demkow
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Corresponding author

Correspondence to Anna Kupniewska .

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Editors and Affiliations

  1. Opole Medical School, Opole, Poland

    Mieczyslaw Pokorski

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Kupniewska, A., Szymanska, K., Demkow, U. (2017). Proteomics in the Diagnosis of Inborn Encephalopathies of Unknown Origin: A Myth or Reality. In: Pokorski, M. (eds) Clinical Research Involving Pulmonary Disorders. Advances in Experimental Medicine and Biology(), vol 1040. Springer, Cham. https://doi.org/10.1007/5584_2017_104

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