論文 - 詳細
| RRC ID | 54468 |
|---|---|
| 著者 | Imai Y, Meng H, Shiba-Fukushima K, Hattori N. |
| タイトル | Twin CHCH Proteins, CHCHD2, and CHCHD10: Key Molecules of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia. |
| ジャーナル | Int J Mol Sci |
| Abstract |
Mutations of coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) and 10 (CHCHD10) have been found to be linked to Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and/or frontotemporal lobe dementia (FTD). CHCHD2 and CHCHD10 proteins, which are homologous proteins with 54% identity in amino acid sequence, belong to the mitochondrial coiled-coil-helix-coiled-coil-helix (CHCH) domain protein family. A series of studies reveals that these twin proteins form a multimodal complex, producing a variety of pathophysiology by the disease-causing variants of these proteins. In this review, we summarize the present knowledge about the physiological and pathological roles of twin proteins, CHCHD2 and CHCHD10, in neurodegenerative diseases. |
| 巻・号 | 20(4) |
| 公開日 | 2019-2-20 |
| DOI | 10.3390/ijms20040908 |
| PII | ijms20040908 |
| PMID | 30791515 |
| PMC | PMC6412816 |
| MeSH | Amyotrophic Lateral Sclerosis / etiology* Amyotrophic Lateral Sclerosis / metabolism Animals DNA-Binding Proteins Disease Susceptibility Frontotemporal Dementia / etiology* Frontotemporal Dementia / metabolism Gene Expression Regulation Genetic Predisposition to Disease Humans Mitochondria / genetics Mitochondria / metabolism Mitochondrial Proteins / chemistry Mitochondrial Proteins / genetics* Mitochondrial Proteins / metabolism Mutation Parkinson Disease / etiology* Parkinson Disease / metabolism Protein Binding Protein Transport Signal Transduction Structure-Activity Relationship Transcription Factors / chemistry Transcription Factors / genetics* Transcription Factors / metabolism |
| IF | 4.183 |
| 引用数 | 9 |
| リソース情報 | |
| ショウジョウバエ | 6459R-1,6459R-7 |