ijms-logo

Journal Browser

Journal Browser

Proteinopathies in Frontotemporal Lobar Degeneration

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: closed (30 June 2022) | Viewed by 3296

Special Issue Editor


grade E-Mail Website
Guest Editor
Neurology Unit, Neurophysiology Service and Neurorehabilitation Unit, and Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 20132 Milan, Italy
Interests: Parkinson’s disease; multiple sclerosis; Alzheimer’s disease; amyotrophic lateral sclerosis; neuroimaging
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is dedicated to the study of the molecular underpinnings of clinical variants of the frontotemporal lobar degeneration (FTLD) spectrum and will publish a collection of original studies or review articles related to this topic. In contrast to the relative pathological homogeneity of other neurodegenerative diseases (e.g., Alzheimer’s disease or Parkinson’s disease), FTLD variants have been associated with a variety of underlying proteinopathies, including tau, TDP-43 and FUS. The influence of the genetic background, brain network architecture and neurochemical microstructural environment over such diverging pathways of neurodegeneration is an area of intense research and the topic of the present issue. The continued identification of pathogenically relevant genes, genotype–phenotype correlations and novel approaches that may provide accurate, early diagnostic biomarkers, even in the presymptomatic stages of FTLD disorders, will be addressed. Only translational studies in human subjects will be accepted, in order to highlight the potential development and implementation of therapeutic strategies in this heterogeneous group of diseases.

Prof. Dr.  Massimo Filippi
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Frontotemporal lobar degeneration
  • Neuropathology
  • TDP-43
  • Tau
  • FUS
  • Proteinopathies
  • Neurodegeneration
  • Dementia
  • Biomarkers
  • Diagnostics and therapeutics
  • Genetics

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Review

19 pages, 1173 KiB  
Review
Molecular Pathways Involved in Frontotemporal Lobar Degeneration with TDP-43 Proteinopathy: What Can We Learn from Proteomics?
by Merel O. Mol, Suzanne S. M. Miedema, John C. van Swieten, Jeroen G. J. van Rooij and Elise G. P. Dopper
Int. J. Mol. Sci. 2021, 22(19), 10298; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms221910298 - 24 Sep 2021
Cited by 10 | Viewed by 2846
Abstract
Frontotemporal lobar degeneration (FTLD) is a neurodegenerative disorder clinically characterized by behavioral, language, and motor symptoms, with major impact on the lives of patients and their families. TDP-43 proteinopathy is the underlying neuropathological substrate in the majority of cases, referred to as FTLD-TDP. [...] Read more.
Frontotemporal lobar degeneration (FTLD) is a neurodegenerative disorder clinically characterized by behavioral, language, and motor symptoms, with major impact on the lives of patients and their families. TDP-43 proteinopathy is the underlying neuropathological substrate in the majority of cases, referred to as FTLD-TDP. Several genetic causes have been identified, which have revealed some components of its pathophysiology. However, the exact mechanisms driving FTLD-TDP remain largely unknown, forestalling the development of therapies. Proteomic approaches, in particular high-throughput mass spectrometry, hold promise to help elucidate the pathogenic molecular and cellular alterations. In this review, we describe the main findings of the proteomic profiling studies performed on human FTLD-TDP brain tissue. Subsequently, we address the major biological pathways implicated in FTLD-TDP, by reviewing these data together with knowledge derived from genomic and transcriptomic literature. We illustrate that an integrated perspective, encompassing both proteomic, genetic, and transcriptomic discoveries, is vital to unravel core disease processes, and to enable the identification of disease biomarkers and therapeutic targets for this devastating disorder. Full article
(This article belongs to the Special Issue Proteinopathies in Frontotemporal Lobar Degeneration)
Show Figures

Figure 1

Back to TopTop