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Translational and Molecular Research of Neurological Disorders
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Translational and Molecular Research of Neurological Disorders

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: 15 May 2024 | Viewed by 3483

Special Issue Editors

Dr. Jose Miguel Laffita-Mesa

E-Mail Website
Guest Editor
Department of Clinical Neuroscience (CNS), Karolinska Universitetssjukhuset, Stockholm, Sweden
Interests: spinocerebellar ataxias; polyQ disorders; Ataxin-2; molecular pathways in Alzheimer and frontotemporal dementia; epigenetics; neurogenetics of movement disorders; molecular mechanisms of spinocerebellar ataxias and other inherited neurological disorders; molecular techniques; RAN translation; circRNA; RNA processing; functional studies of genetic alterations; biomarker discovery and validation
Dr. Martin Paucar

E-Mail Website
Guest Editor
Department of Clinical Neuroscience (CNS), Karolinska Universitetssjukhuset, Stockholm, Sweden
Interests: spinocerebellar ataxias; polyQ disorders; Ataxin-2; neurogenetic of movement disorders; molecular mechanisms of spinocerebellar ataxias; genotype–phenotype relationship; functional studies of genetic alterations; biomarker discovery and validation
Prof. Dr. Per Svenningsson

E-Mail Website
Guest Editor
Department of Clinical Neuroscience (CNS), Karolinska Universitetssjukhuset, Stockholm, Sweden
Interests: aging diseases; Parkinson’s disease; neuroscience; neuropharmacology; polyQ diseases; move-ment disorders; G-proteins; molecular mechanisms of p11/S100a; animal models of Parkinson’s disease; Gaucher disease; optogenetics; signal transduction; genetics of Parkinson’s disease

Special Issue Information

Dear Colleagues, 

The burden of neurodegenerative diseases cannot be understated; a larger aging population represents a challenge for health systems caring for patients with idiopathic diseases such as Alzheimer’s disease and Parkinson’s disease. The lack of disease-modifying therapies may mirror a limited understanding of those conditions’ underlying pathogenesis. That is also the case for genetic diseases associated with pathological nucleotide expansions such as frontotemporal dementia, Huntington’s disease, and other polyQ disorders. Basic science faces a challenge in questioning current models of putative pathogenesis, opening new paths, and translating advances in our understanding of disease mechanism. This issue is focused on basic science and translational studies that include in vitro and animal models of neurological disorders. Clinical contributions that include biomolecular experiments or genetic studies are also welcomed to be submitted.

Neurological disorders to be included in this issue are, among others:

  • Alzheimer’s disease (AD);
  • Amyotrophic lateral sclerosis (ALS);
  • Frontotemporal dementia (FTD);
  • Huntington disease and similar phenotypes (HD);
  • Parkinson’s disease (PD);
  • Spinocerebellar ataxias (SCAs).

Dr. José Miguel Laffita-Mesa
Dr. Martin Paucar
Prof. Dr. Per Svenningsson
Guest Editors

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

  • molecular pathways

  • neurological disorders
  • neurodegeneration
  • animal models
  • pathogenesis
  • neurogenetics
  • biomarkers

Published Papers (2 papers)

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Research

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16 pages, 13546 KiB  
Article
Secretome Analyses Identify FKBP4 as a GBA1-Associated Protein in CSF and iPS Cells from Parkinson’s Disease Patients with GBA1 Mutations
by Rika Kojima, Wojciech Paslawski, Guochang Lyu, Ernest Arenas, Xiaoqun Zhang and Per Svenningsson
Int. J. Mol. Sci. 2024, 25(1), 683; https://doi.org/10.3390/ijms25010683 - 04 Jan 2024
Cited by 1 | Viewed by 2062
Abstract
Mutations in the GBA1 gene increase the risk of developing Parkinson’s disease (PD). However, most carriers of GBA1 mutations do not develop PD throughout their lives. The mechanisms of how GBA1 mutations contribute to PD pathogenesis remain unclear. Cerebrospinal fluid (CSF) is used [...] Read more.
Mutations in the GBA1 gene increase the risk of developing Parkinson’s disease (PD). However, most carriers of GBA1 mutations do not develop PD throughout their lives. The mechanisms of how GBA1 mutations contribute to PD pathogenesis remain unclear. Cerebrospinal fluid (CSF) is used for detecting pathological conditions of diseases, providing insights into the molecular mechanisms underlying neurodegenerative disorders. In this study, we utilized the proximity extension assay to examine the levels of metabolism-linked protein in the CSF from 17 PD patients carrying GBA1 mutations (GBA1-PD) and 17 idiopathic PD (iPD). The analysis of CSF secretome in GBA1-PD identified 11 significantly altered proteins, namely FKBP4, THOP1, GLRX, TXNDC5, GAL, SEMA3F, CRKL, APLP1, LRP11, CD164, and NPTXR. To investigate GBA1-associated CSF changes attributed to specific neuronal subtypes responsible for PD, we analyzed the cell culture supernatant from GBA1-PD-induced pluripotent stem cell (iPSC)-derived midbrain dopaminergic (mDA) neurons. The secretome analysis of GBA1-PD iPSC-derived mDA neurons revealed that five differently regulated proteins overlapped with those identified in the CSF analysis: FKBP4, THOP1, GLRX, GAL, and CRKL. Reduced intracellular level of the top hit, FKPB4, was confirmed via Western Blot. In conclusion, our findings identify significantly altered CSF GBA1-PD-associated proteins with FKPB4 being firmly attributed to mDA neurons. Full article
(This article belongs to the Special Issue Translational and Molecular Research of Neurological Disorders)
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17 pages, 1304 KiB  
Review
Protein Translation in the Pathogenesis of Parkinson’s Disease
by Daniyal Ashraf, Mohammed Repon Khan, Ted M. Dawson and Valina L. Dawson
Int. J. Mol. Sci. 2024, 25(4), 2393; https://doi.org/10.3390/ijms25042393 - 18 Feb 2024
Viewed by 944
Abstract
In recent years, research into Parkinson’s disease and similar neurodegenerative disorders has increasingly suggested that these conditions are synonymous with failures in proteostasis. However, the spotlight of this research has remained firmly focused on the tail end of proteostasis, primarily aggregation, misfolding, and [...] Read more.
In recent years, research into Parkinson’s disease and similar neurodegenerative disorders has increasingly suggested that these conditions are synonymous with failures in proteostasis. However, the spotlight of this research has remained firmly focused on the tail end of proteostasis, primarily aggregation, misfolding, and degradation, with protein translation being comparatively overlooked. Now, there is an increasing body of evidence supporting a potential role for translation in the pathogenesis of PD, and its dysregulation is already established in other similar neurodegenerative conditions. In this paper, we consider how altered protein translation fits into the broader picture of PD pathogenesis, working hand in hand to compound the stress placed on neurons, until this becomes irrecoverable. We will also consider molecular players of interest, recent evidence that suggests that aggregates may directly influence translation in PD progression, and the implications for the role of protein translation in our development of clinically useful diagnostics and therapeutics. Full article
(This article belongs to the Special Issue Translational and Molecular Research of Neurological Disorders)
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