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Genetic Bases of Neurodegenerative Disease

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (20 January 2025) | Viewed by 3025

Special Issue Editor


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Guest Editor
Dipartimento di Scienze Mediche e Chirurgiche, Università di Bologna, Bologna, Italy
Interests: rare diseases (especially hereditary spastic paraplegia) and sarcomas (e.g. clear cell sarcoma)
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Special Issue Information

Dear Colleagues,

This Special Issue is supervised by Dr. Emanuele Panza and assisted by our Topical Advisory Panel member, Dr. Chih-Wei Zeng.

The scope of this Special Issue is to provide an overview of the current knowledge in the field of inherited motor neuron disorders. The investigation of these conditions could identify shared pathways that could be the target of specific therapies. There is a great interest in in vitro, in vivo and innovative models such as organoids to investigate the disease in detail and to use these models to test therapies. We invite scientists to contribute to this collection by submitting original research articles and reviews on the following themes:

  • Pathogenetic mechanisms in motor neuron disease;
  • Common mechanisms in neurodegenerative diseases and other conditions;
  • Rare diseases that cause motor disorders;
  • Diseases of neurometabolic nature;
  • Motor diseases of genetic nature;
  • Epilepsies caused by or related to metabolic deficiencies;
  • Models of metabolic motor disorders: in vivo and in vitro models and organoids;
  • Genotype–phenotype correlation.

Dr. Emanuele Panza
Guest Editor

Manuscript Submission Information

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Keywords

  • pathogenetic mechanisms in HSPs
  • identification of new HSPs forms
  • HSPs of neurometabolic nature

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Published Papers (1 paper)

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Review

18 pages, 1569 KiB  
Review
Experimental Cell Models for Investigating Neurodegenerative Diseases
by Cecilia Evangelisti, Sherin Ramadan, Antonio Orlacchio and Emanuele Panza
Int. J. Mol. Sci. 2024, 25(17), 9747; https://doi.org/10.3390/ijms25179747 - 9 Sep 2024
Cited by 2 | Viewed by 2364
Abstract
Experimental models play a pivotal role in biomedical research, facilitating the understanding of disease mechanisms and the development of novel therapeutics. This is particularly true for neurodegenerative diseases, such as Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, amyotrophic lateral sclerosis, and motor neuron disease, [...] Read more.
Experimental models play a pivotal role in biomedical research, facilitating the understanding of disease mechanisms and the development of novel therapeutics. This is particularly true for neurodegenerative diseases, such as Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, amyotrophic lateral sclerosis, and motor neuron disease, which present complex challenges for research and therapy development. In this work, we review the recent literature about experimental models and motor neuron disease. We identified three main categories of models that are highly studied by scientists. In fact, experimental models for investigating these diseases encompass a variety of approaches, including modeling the patient’s cell culture, patient-derived induced pluripotent stem cells, and organoids. Each model offers unique advantages and limitations, providing researchers with a range of tools to address complex biological questions. Here, we discuss the characteristics, applications, and recent advancements in terms of each model system, highlighting their contributions to advancing biomedical knowledge and translational research. Full article
(This article belongs to the Special Issue Genetic Bases of Neurodegenerative Disease)
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