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Molecular mechanism of amyotrophic lateral sclerosis (ALS) from the viewpoint of the formation and degeneration of transactive response DNA-binding protein 43 kDa (TDP-43) inclusions
- Source :
- Rinsho Shinkeigaku. 60:109-116
- Publication Year :
- 2020
- Publisher :
- Societas Neurologica Japonica, 2020.
-
Abstract
- Sporadic amyotrophic lateral sclerosis (SALS) and many cases of familial ALS (FALS) demonstrate cytoplasmic transactive response DNA-binding protein 43 kDa (TDP-43)-positive inclusion bodies. Thus, TDP-43 plays a vital role in ALS pathogenesis. Functional analysis of the ALS causative genes advanced the elucidation of the mechanism associated with the formation and degradation of TDP-43 aggregates. Stress granules, which are non-membranous organelles, are attracting attention as sites of aggregate formation, with involvement of FUS and C9orf72. Concurrently, ALS causative genes related to the ubiquitin-proteasome and autophagy systems, which are aggregate degradation mechanisms, have also been reported. Therefore, therapeutic research based on the molecular pathology common to SALS and FALS has been advanced.
- Subjects :
- Proteasome Endopeptidase Complex
Protein Aggregation, Pathological
Inclusion bodies
Pathogenesis
03 medical and health sciences
0302 clinical medicine
Stress granule
C9orf72
Autophagy
Humans
Medicine
Amyotrophic lateral sclerosis
C9orf72 Protein
Ubiquitin
business.industry
Molecular pathology
Amyotrophic Lateral Sclerosis
medicine.disease
Cell biology
DNA-Binding Proteins
Cytoplasm
RNA-Binding Protein FUS
Neurology (clinical)
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 18820654 and 0009918X
- Volume :
- 60
- Database :
- OpenAIRE
- Journal :
- Rinsho Shinkeigaku
- Accession number :
- edsair.doi.dedup.....4ceac896cb3614fdedf1e769c0249ce1