The DOI matches its Crossref record; 149 of the 149 references it cites were found in a registry or an index.
Mitochondria and degenerative disorders
Abstract
In mammalian cells, mitochondria provide energy from aerobic metabolism. They play an important regulatory role in apoptosis, produce and detoxify free radicals, and serve as a cellular calcium buffer. Neurodegenerative disorders involving mitochondria can be divided into those caused by oxidative phosphorylation (OXPHOS) abnormalities either due to mitochondrial DNA (mtDNA) abnormalities, e.g., chronic external ophthalmoplegia, or due to nuclear mutations of OXPHOS proteins, e.g., complex I and II associated with Leigh syndrome. There are diseases caused by nuclear genes encoding non‐OXPHOS mitochondrial proteins, such as frataxin in Friedreich ataxia (which is likely to play an important role in mitochondrial‐cytosolic iron cycling), paraplegin (possibly a mitochondrial ATP‐dependent zinc metalloprotease of the AAA‐ATPases in hereditary spastic paraparesis), and possibly Wilson disease protein (an abnormal copper transporting ATP‐dependent P‐type ATPase associated with Wilson disease). Huntingon disease is an example of diseases with OXPHOS defects associated with mutations of nuclear genes encoding non‐mitochondrial proteins such as huntingtin. There are also disorders with evidence of mitochondrial involvement that cannot as yet be assigned. These include Parkinson disease (where a complex I defect is described and free radicals are generated from dopamine metabolism), amyotrophic lateral sclerosis, and Alzheimer disease, where there is evidence to suggest mitochondrial involvement perhaps secondary to other abnormalities. © 2001 Wiley‐Liss, Inc.
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1 retracted
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Mitochondrial membrane permeabilization in cell death
Kroemer, G., Galluzzi, L., & Brenner, C. (2007) · Physiological Reviews · doi:10.1152/physrev.00013.2006 · Cited by 3,598
Mitochondria and neuronal activity
Kann, O., & Kovács, R. (2007) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00222.2006 · Cited by 855
Kussmaul, L., & Hirst, J. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0510977103 · Cited by 720
Dash, U. C., Bhol, N. K., Swain, S. K., Samal, R. R., Nayak, P. K., Raina, V., Panda, S. K., Kerry, R. G., Duttaroy, A. K., & Jena, A. B. (2025) · Acta Pharmaceutica Sinica B · doi:10.1016/j.apsb.2024.10.004 · Cited by 700
AIF deficiency compromises oxidative phosphorylation
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Metadata
- Authors
- Orth, M., & Schapira, A. H. V.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 2001-03
- Volume
- 106
- Issue
- 1
- Pages
- 27-36
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W1973552449
- Cited by
- 280
- References
- 149
- FWCI
- 6.84
- Type
- journal article
- Language
- en
- Open access
- closed
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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