Diseases of the mitochondrial DNA
Abstract
The Hippo pathway was initially discovered in Drosophila melanogaster as a key regulator of tissue growth. It is an evolutionarily conserved signaling cascade regulating numerous biological processes, including cell growth and fate decision, organ size ...Read More
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Over 80% of patients with MELAS have the m.3243A>G mutation in the MT-TL1 gene.
“Over 80% of patients with MELAS have the m.3243A N G mutation in the MT-TL1 gene [109,110].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [110]
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- Authors
- Wallace, D. C.
- Affiliations
- Emory University (US)
- Corresponding author
- Wallace, Douglas C.
- ORCID
- Wallace, Douglas C.
- Venue
- Annual Review of Biochemistry
- Publisher
- Annual Reviews
- Published
- 1992-06
- Volume
- 61
- Issue
- 1
- Pages
- 1175-1212
- ISSN
- 0066-4154 (ISSN-L)
- 1545-4509
- OpenAlex
- W2159479663
- Cited by
- 1,319
- References
- 1
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 8 · 2023: 7 · 2022: 21 · 2021: 23 · 2020: 13 · 2019: 15 · 2018: 19 · 2017: 24 · 2016: 26 · 2015: 22 · 2014: 34 · 2013: 31 · 2012: 20
- FWCI
- 27.77
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Biochemistry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01hl045572-08, 5r01gm046915-03)
- National Heart, Lung, and Blood Institute (HL45572)
- National Institute of General Medical Sciences (GM46915)
- National Institute of Neurological Disorders and Stroke (NS-21328, R01NS021328)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- mitochondrial DNA disease, mitochondrial DNA mutations, mitochondrial disease
- MeSH terms
- Aging, Base Sequence, DNA, DNA Mutational Analysis, DNA, Mitochondrial, Gene Expression Regulation, Humans, Molecular Sequence Data, Oxidative Phosphorylation, Genetic Therapy, Genetic Diseases, Inborn
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