Cellular and Molecular Mechanism of Motor Neuron Diseases
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".
Deadline for manuscript submissions: closed (31 December 2023) | Viewed by 1751
Special Issue Editor
Interests: ALS; neurodegeneration; zebrafish; C9orf72; TDP-43; FUS; TBK1; autophagy; integrated stress response
Special Issue Information
Dear Colleagues,
Motor neuron diseases are an important health concern as they affect children via spinal muscular atrophy (SMA) and have several adult-onset forms, including the most prevalent, Amyotrophic Lateral Sclerosis (ALS). Clinical features include major and progressive muscle wasting that leads to paralysis with well-defined pathological markers. Whereas SMA is a monogenic disorder featuring mutations associated with reduced function of the SMN factor, a number of genetic causes have been identified over the past decade, including the major genetic causes C9orf72, TDP-43, FUS, and SOD1 as well as several factors involved in specific molecular pathways, including TBK1, SQSTM1, and OPTN2. To better understand these disorders, major progress has been achieved to develop cellular models, including ALS- and SMA-patient-derived induced pluripotent stem cells as well as an array of animal models to study pathogenic mechanisms caused by motor neuron degeneration. Furthermore, to combat these life-threatening disorders, genetic therapy for SMA has provided important clinical relief and hope for patients and their families. Through the powerful animal and cellular models that have been developed for these genetic causes, a number of pharmacological avenues are being considered for these disorders to further advance the therapeutic options for ALS and SMA patients and for patients with related motor neuron disorders.
Dr. Edor Kabashi
Guest Editor
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Keywords
- neurodegeneration
- neurological diseases
- motor neuron diseases
- genetic models
- pathophysiological mechanisms
- multigenic networks
