Ndufs1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Ndufs1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [1]
NDUFS1 [2]
| | | [3]
|---|---| [4]
| Symbol | NDUFS1 | [5]
| Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit S1 | [6]
| Chromosome | 2q33.3 |
| NCBI Gene ID | 4719 |
| OMIM | 157655 |
| Ensembl ID | ENSG00000156510 |
| UniProt ID | P23378 |
| Encoded Protein | NDUFS1 Protein |
| Associated Diseases | Mitochondrial Complex I Deficiency, Leigh Syndrome, Parkinson's Disease |
The NDUFS1 gene encodes NDUFS1 Protein, a protein involved in various cellular processes relevant to neuronal function and survival. This gene is implicated in the pathogenesis of several neurodegenerative diseases.
| Disease | Inheritance | Key Mutations |
|---|---|---|
| Mitochondrial Complex I Deficiency | Various | Pathogenic variants |
| Leigh Syndrome | Various | Pathogenic variants |
| Parkinson's Disease | Various | Pathogenic variants |
NDUFS1 is expressed in various brain regions, with notable expression in:
Ndufs1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Ndufs1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Koopman WJ, Nijtmans LG, Dieteren CE, Roestenberg P, Valsecchi F, Smeitink JA, Willems PH. "Mitochondrial network complexity and NADH dehydrogenase complex I activity are decreased in human fibroblasts." Cellular and Molecular Life Sciences. Cellular and Molecular Life Sciences. 2010. ↩︎
Liu J, Lv F, Chen C, Huang Z, Luo H, Zhang Y. "Mitochondrial complex I deficiency and Parkinson's disease: from molecular mechanisms to therapeutic strategies." Neurochemistry International. Neurochemistry International. 2021. ↩︎
Wallace DC. "Mitochondrial DNA mutations in disease and aging." Nature Reviews Genetics. Nature Reviews Genetics. 2010. ↩︎
Smeitink JA, van den Heuvel LW, Koene S, Nijtmans LG, Ugalde C, Willems PH. ["Molecular basis of mitochondrial complex I deficiency." Lancet Neurology](https://doi.org/10.1016/S1474-4422(12). Lancet Neurology. 2012. ↩︎
Mimaki M, Wang X, McKenzie M, Thorburn DR, Ryan MT. "Understanding mitochondrial complex I deficiency in Leigh syndrome." Journal of Inherited Metabolic Disease. Journal of Inherited Metabolic Disease. 2012. ↩︎
Giachin G, Bouverot R, Degliesposti G, Sonkina O, Ilari A. "Assembly of the mitochondrial complex I assembly factor NDUFS7." Journal of Molecular Biology. Journal of Molecular Biology. 2016. ↩︎