Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.

ARSACS SomaLogic technology engulfment of cells neuroinflammation proteomic analysis sacsin synaptogenesis

Journal

Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899

Informations de publication

Date de publication:
2020
Historique:
received: 07 09 2020
accepted: 16 12 2020
entrez: 15 2 2021
pubmed: 16 2 2021
medline: 16 2 2021
Statut: epublish

Résumé

Although the genetic basis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) has been uncovered, our poor understanding of disease mechanisms requires new light on functional pathways and modifying factors to improve early diagnostic strategies and offer alternative treatment options in a rare condition with no cure. Investigation of the pathologic state combining disease models and quantitative omic approach might improve biomarkers discovery with possible implications in patients' diagnoses. In this study, we analyzed proteomics data obtained using the SomaLogic technology, comparing cell lysates from ARSACS patients and from a

Identifiants

pubmed: 33584503
doi: 10.3389/fneur.2020.603774
pmc: PMC7873355
doi:

Types de publication

Journal Article

Langues

eng

Pagination

603774

Informations de copyright

Copyright © 2021 Morani, Doccini, Chiorino, Fattori, Galatolo, Sciarrillo, Gemignani, Züchner, Bertini and Santorelli.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Federica Morani (F)

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Department of Biology, University of Pisa, Pisa, Italy.

Stefano Doccini (S)

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.

Giovanna Chiorino (G)

Laboratorio di Genomica, Fondazione Edo ed Elvo Tempia, Biella, Italy.

Fabiana Fattori (F)

Unit of Muscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.

Daniele Galatolo (D)

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.

Elisa Sciarrillo (E)

Laboratorio di Genomica, Fondazione Edo ed Elvo Tempia, Biella, Italy.

Federica Gemignani (F)

Department of Biology, University of Pisa, Pisa, Italy.

Stephan Züchner (S)

Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami, Miami, FL, United States.

Enrico Silvio Bertini (ES)

Unit of Muscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.

Filippo Maria Santorelli (FM)

Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.

Classifications MeSH