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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
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“Mutations in Mfn2 causes Charcot-Marie-Tooth neuropathy type 2A (29), which further strengthens the importance of Mfn2 in cell function.”
From Expression of Mfn2, the Charcot-Marie-Tooth Neuropathy Type 2A Gene, in Human Skeletal Muscle (2005) · cites this paper as [29]
In the citing paper
“Loss-of-function mutations in MFN2 and OPA1 genes cause two neurodegenerative diseases, Charcot–Marie–Tooth type 2A (CMT2A) [179] and dominant optic atrophy (DOA) [180, 181], respectively.”
From The connection between the dynamic remodeling of the mitochondrial network and the regulation of muscle mass (2021) · cites this paper as [179]
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Metadata
- Authors
- Züchner, S., Mersiyanova, I. V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone, A., Battologlu, E., Polyakov, A. V., Timmerman, V., Schröder, J. M., & Vance, J. M.
- Affiliations
- Research Centre for Medical Genetics (RU)
- Institute of Neurological Sciences (IT)
- Duke Medical Center (US)
- Magna Graecia University (IT)
- University of Antwerp (BE)
- Universitätsklinikum Aachen (DE)
- The University of Tokyo (JP)
- Boğaziçi University (TR)
- Corresponding author
- Vance, Jeffery M
- ORCID
- Venue
- Nature Genetics
- Published
- 2004-04-04
- Volume
- 36
- Issue
- 5
- Pages
- 449-451
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2127271204
- Cited by
- 1,572
- References
- 15
- Citations by year
- 2026: 45 · 2025: 34 · 2024: 45 · 2023: 51 · 2022: 59 · 2021: 80 · 2020: 71 · 2019: 96 · 2018: 84 · 2017: 73 · 2016: 80 · 2015: 76 · 2014: 87 · 2013: 98 · 2012: 126
- FWCI
- 17.88
- Type
- journal article
- Language
- en
- Open access
- Licence
- other-oa
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- RWTH Publications (RWTH Aachen) (submittedVersion)
- INFM-OAR (INFN Catania) (submittedVersion, other-oa)
- Funders
- Wellcome Trust
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Health Sciences › Medicine › Clinical Neurology › Peripheral Neuropathies and Disorders
- Keywords
- mitofusin 2, missense mutations, mitochondrial fusion, KIF1B, hereditary neuropathy, pedigree
- MeSH terms
- Adolescent, Adult, Charcot-Marie-Tooth Disease, Child, Child, Preschool, Chromosomes, Human, Pair 1, Exons, Female, Humans, Introns, Lod Score, Male, Membrane Proteins, Middle Aged, Mitochondria, Nerve Tissue Proteins, Pedigree, Kinesins, Mutation, Missense, GTP Phosphohydrolases, Mitochondrial Proteins
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