Research ID
hum0488-v1Release info
Latest
Research title
Analysis of Mechanisms Regulating TDP-43-Related Gene Expression in Amyotrophic Lateral Sclerosis (ALS)
Research overview
- Aims
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that causes systemic muscle weakness, dysphagia, and respiratory failure. Currently, there are no definitive cures available, and the development of new treatments is urgently needed. The causes of ALS remain largely unknown, but in most ALS patients, there is a mislocalization of the RNA-binding protein TDP-43 from the nucleus to the cytoplasm in motor neurons, along with its abnormal aggregation. This suggests that some abnormalities in RNA metabolism mediated by TDP-43 are related to the onset of ALS. This study aims to elucidate the significance of RNA metabolic abnormalities in ALS.
- Methods
- WGS, bulk RNA-seq, single-nucleus RNA-seq, single-nucleus ATAC-seq
- Participants/materials
- 13 ALS patients whose autopsy pathology confirmed intracellular mislocalization and abnormal deposition of TDP-43 and 13 patients with other diseases who had no TDP-43 pathology (non-ALS) at Osaka University Hospital and Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology.
- URL
- N/A
Datasets
| Cart | Dataset ID | Type of data | Analysis method | Access criteria | Date published |
|---|---|---|---|---|---|
| JGAD000993 | NGS (bulk RNA-seq) |
| Controlled-access (Type I) | 2026-01-06 | |
| JGAD000994 | NGS (WGS, snRNA-seq, snATAC-seq) |
| Controlled-access (Type I) | 2026-01-06 |
Data provider
- Principal investigator
- Seiichi Nagano
- Affiliation
- Department of Neurotherapeutics, Osaka University Graduate School of Medicine
Research projects
No research projects.
Grants
| Name | Title | Project number |
|---|---|---|
KAKENHI Grant-in-Aid for Scientific Research (B) | Elucidation of the pathogenesis and development of the treatment strategy of ALS/FTLD focusing on the local translation in neuronal axons |
|
KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area) | Elucidation of the pathogenesis of amyotrophic lateral sclerosis based on neuronal iron metabolism disorders |
|
KAKENHI Grant-in-Aid for Challenging Research (Exploratory) | Elucidation of the mechanism of ALS onset via cell type-specific splicing alterations |
|
KAKENHI Grant-in-Aid for Scientific Research (B) | Identification of ALS pathology-related factors through integrated analysis of patient tissue-derived RNA-seq data |
|
Translational Research Program, Japan Agency for Medical Research and Development (AMED) | Development of a treatment for amyotrophic lateral sclerosis through improvement of ribosomal function within neurons |
|
Practical Research Project for Rare / Intractable Diseases, Japan Agency for Medical Research and Development (AMED) | Development of a novel treatment for amyotrophic lateral sclerosis (ALS) aimed at improving ribosomal function |
|
Brain and Mind Research Promotion Program, Japan Agency for Medical Research and Development (AMED) | Elucidation of pathogenesis mechanisms and development of therapeutic approaches for amyotrophic lateral sclerosis mediated by regulatory T cells |
|
Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives (OTRI), Osaka University | Elucidation of Pathogenesis and Development of Therapeutic Approaches for Amyotrophic Lateral Sclerosis (ALS) Centered on Endogenous Retroviruses (ERVs) | N/A |
Related publications
| Title | DOI | Dataset ID |
|---|---|---|
piRNA/PIWI Protein Complex as a Potential Biomarker in Sporadic Amyotrophic Lateral Sclerosis | ||
Alternative Splicing Alterations in Patients With Amyotrophic Lateral Sclerosis: Link to the Disruption of TAR DNA-Binding Protein 43 kDa Functions | ||
Single-nucleus multiome shows motor neuron glutamate overactivation in amyotrophic lateral sclerosis |
Controlled access users
No use of the controlled access data has been recorded.