Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
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Mutations in Mfn2 cause Charcot-Marie-Tooth neuropathy type 2A.
“Mutations in Mfn2 causes Charcot-Marie-Tooth neuropathy type 2A (29), which further strengthens the importance of Mfn2 in cell function.”
From Expression of <i>Mfn2</i>, the Charcot-Marie-Tooth Neuropathy Type 2A Gene, in Human Skeletal Muscle (2005) · cites this paper as [29]
Loss-of-function mutations in MFN2 and OPA1 genes cause Charcot-Marie-Tooth type 2A (CMT2A) and dominant optic atrophy (DOA), respectively.
“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]
Cites
Chen, H., Detmer, S. A., Ewald, A. J., Griffin, E. E., Fraser, S. E., & Chan, D. C. (2003) · The Journal of Cell Biology · doi:10.1083/jcb.200211046 · Cited by 2,601 · see citing works
Control of mitochondrial morphology by a human mitofusin
Santel, A., & Fuller, M. T. (2001) · Journal of Cell Science · doi:10.1242/jcs.114.5.867 · Cited by 1,012 · see citing works
Karbowski, M., Lee, Y.-J., Gaume, B., Jeong, S.-Y., Frank, S., Nechushtan, A., Santel, A., Fuller, M., Smith, C. L., & Youle, R. J. (2002) · The Journal of Cell Biology · doi:10.1083/jcb.200209124 · Cited by 846 · see citing works
Mitofusin-2 Determines Mitochondrial Network Architecture and Mitochondrial Metabolism
Bach, D., Pich, S., Soriano, F. X., Vega, N., Baumgartner, B., Oriola, J., Daugaard, J. R., Lloberas, J., Camps, M., Zierath, J. R., et al. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m212754200 · Cited by 832 · see citing works
Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bβ
Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00363-4 · Cited by 765 · see citing works
Self-citationDevelopmentally Regulated Mitochondrial Fusion Mediated by a Conserved, Novel, Predicted GTPase
Hales, K. G., & Fuller, M. T. (1997) · Cell · doi:10.1016/s0092-8674(00)80319-0 · Cited by 611 · see citing works
Rojo, M., Legros, F., Chateau, D., & Lombès, A. (2002) · Journal of Cell Science · doi:10.1242/jcs.115.8.1663 · Cited by 555 · see citing works
Nunnari, J. M., Marshall, W. F., Straight, A. F., Murray, A., Sedat, J. W., & Walter, P. (1997) · Molecular Biology of the Cell · doi:10.1091/mbc.8.7.1233 · Cited by 514 · see citing works
Mitochondrial filaments and clusters as intracellular power-transmitting cables
Skulachev, V. P. (2001) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(00)01735-7 · Cited by 477 · see citing works
Ono, T., Isobe, K., Nakada, K., & Hayashi, J.-I. (2001) · Nature Genetics · doi:10.1038/90116 · Cited by 420 · see citing works
Othmane, K. B., Middleton, L. T., Loprest, L., Wilkinson, K. M., Lennon, F., Rozear, M. P., Stajich, J. M., Gaskell, P. C., Roses, A. D., Pericak‐Vance, M. A., et al. (1993) · Genomics · doi:10.1006/geno.1993.1334 · Cited by 163 · see citing works
Self-citationSaito, M., Hayashi, Y., Suzuki, T., Tanaka, H., Hozumi, I., & Tsuji, S. (1997) · Neurology · doi:10.1212/wnl.49.6.1630 · Cited by 58 · see citing works
Self-citationThe Many Faces of Charcot-Marie-Tooth Disease
Vance, J. M. (2000) · Archives of Neurology · doi:10.1001/archneur.57.5.638 · Cited by 57 · see citing works
Self-citationClinical and genetic study of a large Charcot–Marie–Tooth type 2A family from southern Italy
Muglia, M., Zappia, M., Timmerman, V., Valentino, P., Gabriele, A. L., Conforti, F. L., Jonghe, P. D., Ragno, M., Mazzei, R., Sabatelli, M., et al. (2001) · Neurology · doi:10.1212/wnl.56.1.100 · Cited by 33 · see citing works
Self-citationConfirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity
Pericak‐Vance, M. A., Speer, M. C., Lennon, F., West, S. G., Menold, M. M., Stajich, J. M., Wolpert, C. M., Slotterbeck, B. D., Saito, M., Tim, R. W., et al. (1997) · Neurogenetics · doi:10.1007/s100480050013 · Cited by 30 · see citing works
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Flagged first, then by citations
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Sorted by citations
Mitochondria: In Sickness and in Health
Nunnari, J., & Suomalainen, A. (2012) · Cell · doi:10.1016/j.cell.2012.02.035 · Cited by 3,479 · see citing works
Mitofusin 2 tethers endoplasmic reticulum to mitochondria
de Brito, O. M., & Scorrano, L. (2008) · Nature · doi:10.1038/nature07534 · Cited by 2,442 · see citing works
Mitochondrial fusion and fission in cell life and death
Westermann, B. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3013 · Cited by 2,002 · see citing works
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
Chan, D. C. (2006) · Cell · doi:10.1016/j.cell.2006.06.010 · Cited by 1,987 · see citing works
The cell biology of mitochondrial membrane dynamics
Giacomello, M., Pyakurel, A., Glytsou, C., & Scorrano, L. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-020-0210-7 · Cited by 1,550 · see citing works
Mitochondrial Dynamics and Its Involvement in Disease
Chan, D. C. (2020) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-012419-032711 · Cited by 1,416 · see citing works
Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases
Chen, H., & Chan, D. C. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp326 · Cited by 1,455 · see citing works
Mitochondrial dynamics: overview of molecular mechanisms
Tilokani, L., Nagashima, S., Paupe, V., & Prudent, J. (2018) · Essays in Biochemistry · doi:10.1042/ebc20170104 · Cited by 1,397 · see citing works
Disruption of Fusion Results in Mitochondrial Heterogeneity and Dysfunction
Chen, H., Chomyn, A., & Chan, D. C. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m503062200 · Cited by 1,376 · see citing works
Functions and dysfunctions of mitochondrial dynamics
Detmer, S. A., & Chan, D. C. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2275 · Cited by 1,369 · see citing works
Mitochondrial Dynamics and Metabolic Regulation
Wai, T., & Langer, T. (2016) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2015.12.001 · Cited by 1,304 · see citing works
Mitochondrial dynamics and apoptosis
Suen, D.-F., Norris, K. L., & Youle, R. J. (2008) · Genes & Development · doi:10.1101/gad.1658508 · Cited by 1,270 · see citing works
Yu, T., Robotham, J. L., & Yoon, Y. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0511154103 · Cited by 1,246 · see citing works
Chen, H., Vermulst, M., Wang, Y. E., Chomyn, A., Prolla, T. A., McCaffery, J. M., & Chan, D. C. (2010) · Cell · doi:10.1016/j.cell.2010.02.026 · Cited by 1,211 · see citing works
Mitotic phosphorylation of dynamin-related GTPase Drp1 participates in mitochondrial fission.
Taguchi, N., Ishihara, N., Jofuku, A., Oka, T., & Mihara, K. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m607279200 · Cited by 1,226 · see citing works
The axonal transport of mitochondria
Saxton, W. M., & Hollenbeck, P. J. (2012) · Journal of Cell Science · doi:10.1242/jcs.053850 · Cited by 1,198 · see citing works
Fusion and fission: interlinked processes critical for mitochondrial health
Chan, D. C. (2012) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132529 · Cited by 1,196 · see citing works
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
Pasinelli, P., & Brown, R. H. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1971 · Cited by 1,107 · see citing works
Metabolic regulation of mitochondrial dynamics
Mishra, P., & Chan, D. C. (2016) · The Journal of Cell Biology · doi:10.1083/jcb.201511036 · Cited by 1,096 · see citing works
Mitochondrial Dynamics — Mitochondrial Fission and Fusion in Human Diseases
Archer, S. L. (2013) · New England Journal of Medicine · doi:10.1056/nejmra1215233 · Cited by 1,103 · see citing works
Ishihara, N., Nomura, M., Jofuku, A., Kato, H., Suzuki, S. O., Masuda, K., Otera, H., Nakanishi, Y., Nonaka, I., Goto, Y.-I., et al. (2009) · Nature Cell Biology · doi:10.1038/ncb1907 · Cited by 1,066 · see citing works
Cribbs, J. T., & Strack, S. (2007) · EMBO Reports · doi:10.1038/sj.embor.7401062 · Cited by 1,024 · see citing works
Mitochondrial fragmentation in neurodegeneration.
Knott, A. B., Perkins, G., Schwarzenbacher, R., & Bossy-Wetzel, E. (2008) · Nature Reviews Neuroscience · doi:10.1038/nrn2417 · Cited by 1,002 · see citing works
Dynamin, a membrane-remodelling GTPase
Ferguson, S. M., & Camilli, P. V. D. (2012) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3266 · Cited by 977 · see citing works
Mitochondrial Fusion and Fission in Mammals
Chan, D. C. (2006) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.22.010305.104638 · Cited by 972 · see citing works
Mitochondrial Dynamics in Mammalian Health and Disease
Liesa, M., Palacín, M., & Zorzano, A. (2009) · Physiological Reviews · doi:10.1152/physrev.00030.2008 · Cited by 953 · see citing works
Mitochondrial fusion protects against neurodegeneration in the cerebellum
Chen, H., McCaffery, J. M., & Chan, D. C. (2007) · Cell · doi:10.1016/j.cell.2007.06.026 · Cited by 924 · see citing works
Structural Basis of Mitochondrial Tethering by Mitofusin Complexes
Koshiba, T., Detmer, S. A., Kaiser, J. T., Chen, H., McCaffery, J. M., & Chan, D. C. (2004) · Science · doi:10.1126/science.1099793 · Cited by 910 · see citing works
Cellular and molecular mechanisms of mitochondrial function
Osellame, L. D., Blacker, T. S., & Duchen, M. R. (2012) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2012.05.003 · Cited by 871 · see citing works
Pernas, L. F., & Scorrano, L. (2015) · Annual Review of Physiology · doi:10.1146/annurev-physiol-021115-105011 · Cited by 814 · see citing works
Mitochondria, oxidative stress and neurodegeneration
Federico, A., Cardaioli, E., Pozzo, P. D., Formichi, P., Gallus, G. N., & Radi, E. (2012) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2012.05.030 · Cited by 790 · see citing works
SLP‐2 is required for stress‐induced mitochondrial hyperfusion
Tondera, D., Grandemange, S., Jourdain, A. A., Karbowski, M., Mattenberger, Y., Herzig, S., Cruz, S. D., Clerc, P., Lauria, I., Merkwirth, C., et al. (2009) · The EMBO Journal · doi:10.1038/emboj.2009.89 · Cited by 767 · see citing works
Axonal transport deficits and neurodegenerative diseases
Millecamps, S., & Julien, J.-P. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3380 · Cited by 755 · see citing works
A Lethal Defect of Mitochondrial and Peroxisomal Fission
Waterham, H. R., Koster, J., van Roermund, C. W. T., Mooyer, P. A. W., Wanders, R. J. A., & Leonard, J. V. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa064436 · Cited by 749 · see citing works
Mitochondrial Morphology and Dynamics in Yeast and Multicellular Eukaryotes
Okamoto, K., & Shaw, J. M. (2005) · Annual Review of Genetics · doi:10.1146/annurev.genet.38.072902.093019 · Cited by 737 · see citing works
Mitochondrial fusion and fission: The fine‐tune balance for cellular homeostasis
Adebayo, M., Singh, S., Singh, A. P., & Dasgupta, S. (2021) · The FASEB Journal · doi:10.1096/fj.202100067r · Cited by 733 · see citing works
Mitofusin 1 and 2 play distinct roles in mitochondrial fusion reactions via GTPase activity
Ishihara, N., Eura, Y., & Mihara, K. (2004) · Journal of Cell Science · doi:10.1242/jcs.01565 · Cited by 731 · see citing works
Mitochondrial Energetics and Therapeutics
Wallace, D. C., Fan, W., & Procaccio, V. (2010) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev.pathol.4.110807.092314 · Cited by 727 · see citing works
The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice
Wakabayashi, J., Zhang, Z., Wakabayashi, N., Tamura, Y., Fukaya, M., Kensler, T. W., Iijima, M., & Sesaki, H. (2009) · Journal of Cell Biology · doi:10.1083/jcb.200903065 · Cited by 667 · see citing works
Sebastián, D., Hernández-Alvarez, M. I., Segalés, J., Sorianello, E., Muñoz, J. P., Sala, D., Waget, A., Liesa, M., Paz, J. C., Gopalacharyulu, P., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1108220109 · Cited by 673 · see citing works
MAM (mitochondria-associated membranes) in mammalian cells: Lipids and beyond
Vance, J. E. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2013.11.014 · Cited by 665 · see citing works
Self-citationDisturbed mitochondrial dynamics and neurodegenerative disorders
Burté, F., Carelli, V., Chinnery, P. F., & Yu‐Wai‐Man, P. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.228 · Cited by 659 · see citing works
Nitric oxide‐induced mitochondrial fission is regulated by dynamin‐related GTPases in neurons
Barsoum, M. J., Yuan, H., Gerencser, A. A., Liot, G., Kushnareva, Y., Gräber, S., Kovács, I., Lee, W. D., Waggoner, J., Cui, J., et al. (2006) · The EMBO Journal · doi:10.1038/sj.emboj.7601253 · Cited by 658 · see citing works
Mitochondrial dynamics in adaptive and maladaptive cellular stress responses
Eisner, V., Picard, M., & Hajnóczky, G. (2018) · Nature Cell Biology · doi:10.1038/s41556-018-0133-0 · Cited by 622 · see citing works
Metabolic control of cell death
Green, D. R., Galluzzi, L., & Kroemer, G. (2014) · Science · doi:10.1126/science.1250256 · Cited by 661 · see citing works
Exner, N., Lutz, A. K., Haass, C., & Winklhofer, K. F. (2012) · The EMBO Journal · doi:10.1038/emboj.2012.170 · Cited by 652 · see citing works
Misko, A. L., Jiang, S., Wegorzewska, I., Milbrandt, J., & Baloh, R. H. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.6248-09.2010 · Cited by 643 · see citing works
Mitochondrial optic neuropathies—Disease mechanisms and therapeutic strategies
Yu-Wai-Man, P., Griffiths, P. G., & Chinnery, P. F. (2011) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.11.002 · Cited by 633 · see citing works
Mitochondrial DNA mutations in disease and aging
Wallace, D. C. (2010) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20586 · Cited by 622 · see citing works
Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion
Song, Z., Ghochani, M., McCaffery, J. M., Frey, T. G., & Chan, D. C. (2009) · Molecular Biology of the Cell · doi:10.1091/mbc.e09-03-0252 · Cited by 623 · see citing works
Mitochondria in health, disease, and aging
Harrington, J. S., Ryter, S. W., Plataki, M. E., Price, D. R., & Choi, A. M. K. (2023) · Physiological Reviews · doi:10.1152/physrev.00058.2021 · Cited by 622 · see citing works
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0372-4 · Cited by 575 · see citing works
Nakamura, K., Nemani, V., Azarbal, F., Skibinski, G., Levy, J. M., Egami, K., Munishkina, L. A., Zhang, J., Gardner, B. M., Wakabayashi, J., et al. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.213538 · Cited by 590 · see citing works
Tezze, C., Romanello, V., Desbats, M. A., Fadini, G. P., Albiero, M., Favaro, G., Ciciliot, S., Soriano, M. E., Morbidoni, V., Cerqua, C., et al. (2017) · Cell Metabolism · doi:10.1016/j.cmet.2017.04.021 · Cited by 568 · see citing works
Evgrafov, O. V., Mersiyanova, I., Irobi, J., Bosch, L. V. D., Dierick, I., Leung, C. L., Shchagina, O., Verpoorten, N., Impe, K. V., Fedotov, V. P., et al. (2004) · Nature Genetics · doi:10.1038/ng1354 · Cited by 581 · see citing works
Self-citationVAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis
Vos, K. J. D., Mórotz, G. M., Stoica, R., Tudor, E. L., Lau, K., Ackerley, S., Warley, A., Shaw, C. E., & Miller, C. C. J. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr559 · Cited by 573 · see citing works
Dynamic regulation of mitochondrial fission through modification of the dynamin‐related protein Drp1
Chang, C., & Blackstone, C. D. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2010.05629.x · Cited by 570 · see citing works
Mitochondrial Trafficking in Neurons
Schwarz, T. L. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a011304 · Cited by 525 · see citing works
Mitostasis in Neurons: Maintaining Mitochondria in an Extended Cellular Architecture
Misgeld, T., & Schwarz, T. L. (2017) · Neuron · doi:10.1016/j.neuron.2017.09.055 · Cited by 546 · see citing works
Charcot‐marie‐tooth disease subtypes and genetic testing strategies
Saporta, A. S. D., Sottile, S. L., Miller, L. J., Feely, S. M. E., Siskind, C. E., & Shy, M. E. (2011) · Annals of Neurology · doi:10.1002/ana.22166 · Cited by 543 · see citing works
Emerging functions of mammalian mitochondrial fusion and fission
Chen, H., & Chan, D. C. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi270 · Cited by 538 · see citing works
Mitochondrial Disorders in the Nervous System
DiMauro, S., & Schon, E. A. (2008) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.30.051606.094302 · Cited by 536 · see citing works
Merkwirth, C., Dargazanli, S., Tatsuta, T., Geimer, S., Löwer, B., Wunderlich, F. T., von Kleist-Retzow, J., Waisman, A., Westermann, B., & Langer, T. (2008) · Genes & Development · doi:10.1101/gad.460708 · Cited by 519 · see citing works
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
Amati-Bonneau, P., Valentino, M. L., Reynier, P., Gallardo, M. E., Bornstein, B., Boissiere, A., Campos, Y., Rivera, H., de la Aleja, J. G., Carroccia, R., et al. (2008) · Brain · doi:10.1093/brain/awm298 · Cited by 520 · see citing works
Quality control of mitochondria: protection against neurodegeneration and ageing
Tatsuta, T., & Langer, T. (2008) · The EMBO Journal · doi:10.1038/sj.emboj.7601972 · Cited by 519 · see citing works
A pathway coordinated by DELE1 relays mitochondrial stress to the cytosol
Fessler, E., Eckl, E.-M., Schmitt, S., Mancilla, I. A., Meyer-Bender, M., Hanf, M., Philippou‐Massier, J., Krebs, S., Zischka, H., & Jae, L. T. (2020) · Nature · doi:10.1038/s41586-020-2076-4 · Cited by 514 · see citing works
Energetics, epigenetics, mitochondrial genetics
Wallace, D. C., & Fan, W. (2009) · Mitochondrion · doi:10.1016/j.mito.2009.09.006 · Cited by 507 · see citing works
Mitofusins, from Mitochondria to Metabolism
Schrepfer, E., & Scorrano, L. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.02.022 · Cited by 490 · see citing works
Bannwarth, S., Ait-El-Mkadem, S., Chaussenot, A., Genin, E. C., Lacas‐Gervais, S., Fragaki, K., Berg-Alonso, L., Kageyama, Y., Serre, V., Moore, D. G., et al. (2014) · Brain · doi:10.1093/brain/awu138 · Cited by 482 · see citing works
A common lipid links Mfn-mediated mitochondrial fusion and SNARE-regulated exocytosis
Choi, S., Huang, P., Jenkins, G. M., Chan, D. C., Schiller, J., & Frohman, M. A. (2006) · Nature Cell Biology · doi:10.1038/ncb1487 · Cited by 480 · see citing works
Mitochondrial Inner-Membrane Fusion and Crista Maintenance Requires the Dynamin-Related GTPase Mgm1
Meeusen, S., DeVay, R. M., Block, J., Cassidy-Stone, A., Wayson, S. M., McCaffery, J. M., & Nunnari, J. M. (2006) · Cell · doi:10.1016/j.cell.2006.09.021 · Cited by 474 · see citing works
Pich, S., Bach, D., Briones, P., Liesa, M., Camps, M., Testar, X., Palacín, M., & Zorzano, A. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi149 · Cited by 455 · see citing works
Baloh, R., Schmidt, R., Pestronk, A., & Milbrandt, J. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.4798-06.2007 · Cited by 471 · see citing works
Quality control of the mitochondrion
Ng, M. Y. W., Wai, T., & Simonsen, A. (2021) · Developmental Cell · doi:10.1016/j.devcel.2021.02.009 · Cited by 453 · see citing works
Diverse roles of mitochondria in ischemic stroke
Yang, J., Mukda, S., & Chen, S. (2018) · Redox Biology · doi:10.1016/j.redox.2018.03.002 · Cited by 452 · see citing works
Raturi, A., & Simmen, T. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2012.04.013 · Cited by 448 · see citing works
Mitochondrial Fusion Intermediates Revealed in Vitro
Meeusen, S. L., McCaffery, J., & Nunnari, J. (2004) · Science · doi:10.1126/science.1100612 · Cited by 466 · see citing works
Mitochondrial quality control and muscle mass maintenance.
Romanello, V., & Sandri, M. (2016) · Frontiers in Physiology · doi:10.3389/fphys.2015.00422 · Cited by 434 · see citing works
Mitochondrial Regulation of Cell Cycle and Proliferation
Arciuch, V. G. A., Elguero, M. E., Poderoso, J. J., & Carreras, M. C. (2011) · Antioxidants and Redox Signaling · doi:10.1089/ars.2011.4085 · Cited by 428 · see citing works
Chemotherapy-induced peripheral neuropathy: What do we know about mechanisms?
Carozzi, V., Canta, A., & Chiorazzi, A. (2014) · Neuroscience Letters · doi:10.1016/j.neulet.2014.10.014 · Cited by 436 · see citing works
Duvezin‐Caubet, S., Jagasia, R., Wagener, J., Hofmann, S., Trifunović, A., Hansson, A., Chomyn, A., Bauer, M. F., Attardi, G. M., Larsson, N., et al. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m606059200 · Cited by 431 · see citing works
Hudson, G., Amati-Bonneau, P., Blakely, E. L., Stewart, J. D., He, L., Schaefer, A. M., Griffiths, P. G., Ahlqvist, K., Suomalainen, A., Reynier, P., et al. (2008) · Brain · doi:10.1093/brain/awm272 · Cited by 428 · see citing works
OPA1 processing in cell death and disease – the long and short of it
MacVicar, T., & Langer, T. (2016) · Journal of Cell Science · doi:10.1242/jcs.159186 · Cited by 420 · see citing works
The Mitochondrial Basis of Aging and Age-Related Disorders
Srivastava, S. (2017) · Genes · doi:10.3390/genes8120398 · Cited by 428 · see citing works
Parone, P. A., Da Cruz, S., Tondera, D., Mattenberger, Y., James, D. I., Maechler, P., Barja, F., & Martinou, J.-C. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003257 · Cited by 415 · see citing works
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
Verhoeven, K. (2006) · Brain · doi:10.1093/brain/awl126 · Cited by 408 · see citing works
OPA1‐dependent cristae modulation is essential for cellular adaptation to metabolic demand
Patten, D. A., Wong, J., Khacho, M., Soubannier, V., Mailloux, R. J., Pilon‐Larose, K., MacLaurin, J. G., Park, D. S., McBride, H. M., Trinkle‐Mulcahy, L., et al. (2014) · The EMBO Journal · doi:10.15252/embj.201488349 · Cited by 397 · see citing works
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network
Niemann, A., Rüegg, M., Padula, V. L., Schenone, A. E., & Suter, U. (2005) · The Journal of Cell Biology · doi:10.1083/jcb.200507087 · Cited by 402 · see citing works
Mitochondria as central regulators of neural stem cell fate and cognitive function
Khacho, M., Harris, R., & Slack, R. S. (2018) · Nature reviews. Neuroscience · doi:10.1038/s41583-018-0091-3 · Cited by 396 · see citing works
Mitochondrial dynamics: regulatory mechanisms and emerging role in renal pathophysiology
Zhan, M., Brooks, C. R., Liu, F., Sun, L., & Dong, Z. (2013) · Kidney International · doi:10.1038/ki.2012.441 · Cited by 396 · see citing works
Mitochondrial Fusion: The Machineries In and Out
Gao, S., & Hu, J. (2020) · Trends in Cell Biology · doi:10.1016/j.tcb.2020.09.008 · Cited by 396 · see citing works
Pharmacological approaches to restore mitochondrial function
Andreux, P. A., Houtkooper, R. H., & Auwerx, J. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4023 · Cited by 383 · see citing works
Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
Murphy, S. M., Laurá, M., Fawcett, K. A., Pandraud, A., Liu, Y., Davidson, G. L., Rossor, A. M., Polke, J. M., Castleman, V., Manji, H., et al. (2012) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-302451 · Cited by 379 · see citing works
Tau Promotes Neurodegeneration via DRP1 Mislocalization In Vivo
DuBoff, B., Götz, J., & Feany, M. B. (2012) · Neuron · doi:10.1016/j.neuron.2012.06.026 · Cited by 377 · see citing works
Expression of <i>Mfn2</i>, the Charcot-Marie-Tooth Neuropathy Type 2A Gene, in Human Skeletal Muscle
Bach, D., Naon, D., Pich, S., Soriano, F. X., Vega, N., Rieusset, J., Laville, M., Guillet, C., Boirie, Y., Wallberg-Henriksson, H., et al. (2005) · Diabetes · doi:10.2337/diabetes.54.9.2685 · Cited by 369 · see citing works
Zuchner, S. L., Noureddine, M., Kennerson, M. L., Verhoeven, K., Claeys, K. G., Jonghe, P. D., Merory, J. R., Oliveira, S. A., Speer, M. C., Stenger, J. E., et al. (2005) · Nature Genetics · doi:10.1038/ng1514 · Cited by 363 · see citing works
Self-citationMitochondrial fusion/fission dynamics in neurodegeneration and neuronal plasticity
Bertholet, A. M., Delerue, T., Millet, A. M., Moulis, M. F., David, C., Daloyau, M., Arnauné-Pelloquin, L., Davezac, N., Mils, V., Miquel, M. C., et al. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.10.011 · Cited by 363 · see citing works
Papanicolaou, K. N., Khairallah, R. J., Ngoh, G. A., Chikando, A. C., Luptak, I., O’Shea, K. M., Riley, D. D., Lugus, J. J., Colucci, W. S., Lederer, W. J., et al. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.00911-10 · Cited by 358 · see citing works
Mitochondrial loss, dysfunction and altered dynamics in Huntington's disease
Kim, J., Moody, J. P., Edgerly, C. K., Bordiuk, O. L., Cormier, K., Smith, K., Beal, M. F., & Ferrante, R. J. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq306 · Cited by 356 · see citing works
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
Zuchner, S. L., Jonghe, P. D., Jordanova, A., Claeys, K. G., Guergueltcheva, V., Cherninkova, S., Hamilton, S. R., Stavern, G. P. V., Krajewski, K. M., Stajich, J. M., et al. (2006) · Annals of Neurology · doi:10.1002/ana.20797 · Cited by 357 · see citing works
Self-citation
- 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 › 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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