Special Issue

From protein misfolding to dementia: basic research, innovative diagnosis and early biomarkers

Submission Deadline: 31 December 2022
Articles: 1
Special Issue Editor
Guest Editor
Dr. Fabio Moda
Fondazione IRCCS Istituto Neurologico Carlo Besta, Division of Neurology 5 and Neuropathology, Milan, Italy
Expertise: Biomarkers Discovery; Molecular Biology; Neurodegenerative Disorders; Clinical Biochemistry
Dr. Giorgio Giaccone
Fondazione IRCCS Istituto Neurologico Carlo Besta, Division of Neurology 5 and Neuropathology, Milan, Italy
Expertise: Neuropathology; Neurodegenerative Diseases; Dementia
Dr. Edoardo Bistaffa
Fondazione IRCCS Istituto Neurologico Carlo Besta, Division of Neurology 5 and Neuropathology, Milan, Italy
Expertise: Neurodegeneration; Protein Misfolding; Protein Characterization; Structural Biology
Special Issue Information

Dear Colleagues,

Misfolding, aggregation, and accumulation of specific proteins in the brain represent the key molecular pathways of many neurodegenerative disorders (NDs), including Alzheimer’s disease, Parkinson’s disease and transmissible spongiform encephalopathies (prion diseases).

Although the molecular mechanisms and the whole range of molecules involved in each NDs still need to be clarified, compelling evidences suggest that the misfolded proteins are the basic change of the disease and can adopt a wide spectrum of aberrant conformations which are believed to determine and influence the clinical and neuropathological features.

The definite diagnosis of the different NDs requires postmortem neuropathological analysis and relies on detection and localization of the misfolded protein in the brain. The in vivo diagnosis is based on the clinical presentation, neuropsychology and neuroimaging and has been recently improved by the availability of peripheral biomarkers, most of which related to secondary changes.

However, in the last few years, thanks to the better understanding of these diseases and striking technological advancement (e.g. the development of innovative and ultrasensitive tools), significant progresses have been made toward biomarkers tightly linked to the core pathology of these diseases.

In particular, the development of (1) new cellular and animal models that better recapitulate the most important features of NDs; (2) cell-free amplification techniques (e.g. seeding aggregation assays) that mimic the process of protein misfolding and aggregation in vitro in a very rapid manner; (3) new disease biomarkers, and (4) new technologies and disciplines (e.g. metagenomics, structural and molecular biology, biophysics, biochemistry and artificial intelligence) exploitable for disease research, diagnosis and treatment, are revolutionizing the world of NDs.

The aim of this special issue is to present the most recent discoveries associated with different facets of NDs, including neuropathology, pathophysiology, basic research, and classical or innovative diagnostic approaches that might be on the frontiers of research in the field.

Dr. Fabio Moda, Dr. Giorgio Giaccone and Dr. Edoardo Bistaffa

Guest Editors

Manuscript Submission Information

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Diagnostics; Nervous System; Molecular Biology
Planned Paper(s)

Title: Optical techniques in the Alzheimer's diagnosis: an overview

Author(s): Paolo Matteini (et al.)

Title: Clinical and neuroimaging diagnosis of Parkinson’s disease and Parkinsonism

Author(s): Roberto Eleopra (et al.)

Title: Amyloid-beta variants as potential therapeutic treatment for Alzheimer’s disease

Author(s): Giuseppe Di Fede (et al.)

Title: Seeding aggregation assays for diagnosing synucleinopathies: the issue of influencing factors

Author(s): Lucilla Parnetti (et al.)

Title: Modulators of α-synuclein conformational ensemble

Author(s): Rita Grandori (et al.)

Title: Structural determinants of protein misfolding: the example of prion protein

Author(s): Giuseppe Legname (et al.)

Title: Is the deposition of misfolded proteins in neurodegenerative diseases absolutely disease-specific? A neuropathological overview

Author(s): Fabio Moda (et al.)

Title: Pathological pathway and alpha-Synuclein in Parkinson's disease: a view from the periphery

Author(s): Graziella Cappelletti (et al.)

Title: Diagnosis and progression in FTD/ALS spectrum: cortical hallmarks of neurodegeneration

Author(s): Paola Caroppo (et al.)

Title: Transgenic mouse models for neurodegenerative diseases

Author(s): Juan Maria Torres (et al.)

Title: Alpha-synuclein RT-QuIC biomarker assays of peripheral tissues in synucleinopathies

Author(s): Shu G. Chen (et al.)

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Published Papers (1 papers)
Open Access

Seed amplification assays for diagnosing synucleinopathies: the issue of influencing factors

Giovanni Bellomo, Silvia Paciotti, Leonardo Gatticchi, Domenico Rizzo, Federico Paolini Paoletti, Marco Fragai, Lucilla Parnetti
Frontiers in Bioscience-Landmark Volume 26 Issue 11, pp.1075-1088
DOI: 10.52586/5010 Published: 30 November 2021