MFN2

Summary

Gene Symbol: MFN2
Description: mitofusin 2
Alias: CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, mitofusin-2, hyperplasia suppressor, mitochondrial assembly regulatory factor, transmembrane GTPase MFN2
Species: human
Products:     MFN2

Top Publications

  1. Liesa M, Borda d Agua B, Medina Gomez G, Lelliott C, Paz J, Rojo M, et al. Mitochondrial fusion is increased by the nuclear coactivator PGC-1beta. PLoS ONE. 2008;3:e3613 pubmed publisher
    ..in knock-out mice for the transcriptional regulator PGC-1beta is associated with a selective reduction in Mitofusin 2 (Mfn2) expression, a mitochondrial fusion protein...
  2. Chen K, Dasgupta A, Ding J, Indig F, Ghosh P, Longo D. Role of mitofusin 2 (Mfn2) in controlling cellular proliferation. FASEB J. 2014;28:382-94 pubmed publisher
    It has been reported that Mitofusin2 (Mfn2) inhibits cell proliferation when overexpressed...
  3. Bach D, Naon D, Pich S, Soriano F, Vega N, Rieusset J, et al. Expression of Mfn2, the Charcot-Marie-Tooth neuropathy type 2A gene, in human skeletal muscle: effects of type 2 diabetes, obesity, weight loss, and the regulatory role of tumor necrosis factor alpha and interleukin-6. Diabetes. 2005;54:2685-93 pubmed
    The primary gene mutated in Charcot-Marie-Tooth type 2A is mitofusin-2 (Mfn2)...
  4. Karbowski M, Lee Y, Gaume B, Jeong S, Frank S, Nechushtan A, et al. Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis. J Cell Biol. 2002;159:931-8 pubmed
    ..Surprisingly, Drp1 and Mfn2, but not other proteins implicated in the regulation of mitochondrial morphology, colocalize with Bax in these foci...
  5. Amiott E, Cohen M, Saint Georges Y, Weissman A, Shaw J. A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. Mol Biol Cell. 2009;20:5026-35 pubmed publisher
    Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by mutations in the gene MFN2 and is one of the most common inherited peripheral neuropathies...
  6. Santel A, Frank S, Gaume B, Herrler M, Youle R, Fuller M. Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells. J Cell Sci. 2003;116:2763-74 pubmed
    ..The nuclear encoded mitochondrial proteins Mfn1 and Mfn2 are human homologues of the only known protein mediators of mitochondrial fusion, the Drosophila Fzo GTPase and ..
  7. Kijima K, Numakura C, Izumino H, Umetsu K, Nezu A, Shiiki T, et al. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum Genet. 2005;116:23-7 pubmed
    ..in KIF1B was detected in other pedigrees with CMT2A and the mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) gene were recently detected in those pedigrees...
  8. Zhu D, Kennerson M, Walizada G, Zuchner S, Vance J, Nicholson G. Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology. 2005;65:496-7 pubmed
  9. Neuspiel M, Zunino R, Gangaraju S, Rippstein P, McBride H. Activated mitofusin 2 signals mitochondrial fusion, interferes with Bax activation, and reduces susceptibility to radical induced depolarization. J Biol Chem. 2005;280:25060-70 pubmed
    Mitochondrial fusion in higher eukaryotes requires at least two essential GTPases, Mitofusin 1 and Mitofusin 2 (Mfn2)...

More Information

Publications88

  1. Zuchner S, Mersiyanova I, Muglia M, Bissar Tadmouri N, Rochelle J, Dadali E, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet. 2004;36:449-51 pubmed
  2. Polke J, Laura M, Pareyson D, Taroni F, Milani M, Bergamin G, et al. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. Neurology. 2011;77:168-73 pubmed publisher
    Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2)...
  3. Pich S, Bach D, Briones P, Liesa M, Camps M, Testar X, et al. The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system. Hum Mol Genet. 2005;14:1405-15 pubmed
    Mitofusin-2 (Mfn2) is a mitochondrial membrane protein that participates in mitochondrial fusion in mammalian cells and mutations in the Mfn2 gene cause Charcot-Marie-Tooth neuropathy type 2A...
  4. Neusch C, Senderek J, Eggermann T, Elolff E, Bahr M, Schneider Gold C. Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A). Eur J Neurol. 2007;14:575-7 pubmed
    ..Mutations in the CMT2A locus have been linked to the KIF1B and the mitofusin 2 (MFN2) genes. Here, we report a German patient with CMT2 with an underlying spontaneous mutation (c...
  5. McCorquodale D, Montenegro G, Peguero A, Carlson N, Speziani F, Price J, et al. Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. J Neurol. 2011;258:1234-9 pubmed publisher
    ..Mutations in the gene mitofusin 2 (MFN2) cause the axonal subtype CMT2A, which has also been shown to be associated with optic atrophy, clinical ..
  6. Jin B, Fu G, Pan H, Cheng X, Zhou L, Lv J, et al. Anti-tumour efficacy of mitofusin-2 in urinary bladder carcinoma. Med Oncol. 2011;28 Suppl 1:S373-80 pubmed publisher
    Mitochondrial GTPase mitofusin-2 gene (Mfn2) is a novel gene characterised as a cell proliferation inhibitor. Mfn2 protein over-expression, mediated by an adenovirus, has a significant anti-tumour effect in A548 and HT-29 cells...
  7. Gegg M, Cooper J, Chau K, Rojo M, Schapira A, Taanman J. Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy. Hum Mol Genet. 2010;19:4861-70 pubmed publisher
    ..The ubiquitination of several mitochondrial proteins, including mitofusin 1 and mitofusin 2, were detected within 3 h of CCCP treatment...
  8. Leboucher G, Tsai Y, Yang M, Shaw K, Zhou M, Veenstra T, et al. Stress-induced phosphorylation and proteasomal degradation of mitofusin 2 facilitates mitochondrial fragmentation and apoptosis. Mol Cell. 2012;47:547-57 pubmed publisher
    ..We establish a critical link between stress-induced JNK activation, mitofusin 2, which is an essential component of the mitochondrial outer membrane fusion apparatus, and the ubiquitin-..
  9. Baloh R, Schmidt R, Pestronk A, Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci. 2007;27:422-30 pubmed
    Mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) are the most commonly identified cause of Charcot-Marie-Tooth type 2 (CMT2), a dominantly inherited disease characterized by degeneration of peripheral sensory and motor ..
  10. Wang W, Cheng X, Lu J, Wei J, Fu G, Zhu F, et al. Mitofusin-2 is a novel direct target of p53. Biochem Biophys Res Commun. 2010;400:587-92 pubmed publisher
    ..Mitofusin-2 (Mfn2) is a novel suppressor of cell proliferation that may also exert apoptotic effects via the mitochondrial apoptotic ..
  11. Chen K, Guo X, Ma D, Guo Y, Li Q, Yang D, et al. Dysregulation of HSG triggers vascular proliferative disorders. Nat Cell Biol. 2004;6:872-83 pubmed
    ..Here, we identify and characterize a novel hyperplasia suppressor gene, named HSG (later re-named rat mitofusin-2)...
  12. Wang W, Lu J, Zhu F, Wei J, Jia C, Zhang Y, et al. Pro-apoptotic and anti-proliferative effects of mitofusin-2 via Bax signaling in hepatocellular carcinoma cells. Med Oncol. 2012;29:70-6 pubmed publisher
    Mitochondrial GTPase mitofusin-2 (Mfn2) is a novel gene that remarkably suppresses the injury-mediated proliferation of vascular smooth muscle cells (VSMCs) and has a potential apoptotic effect via the mitochondrial apoptotic pathway...
  13. Bach D, Pich S, Soriano F, Vega N, Baumgartner B, Oriola J, et al. Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity. J Biol Chem. 2003;278:17190-7 pubmed
    ..We show that Mfn2 (mitofusin 2), a mitochondrial membrane protein that participates in mitochondrial fusion in mammalian cells, is induced ..
  14. Rojo M, Legros F, Chateau D, Lombes A. Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. J Cell Sci. 2002;115:1663-74 pubmed
    Two human Fzo-homologs, mitofusins Mfn1 and Mfn2, are shown by RT-PCR and western blot to be ubiquitous mitochondrial proteins...
  15. Guillet V, Gueguen N, Verny C, Ferre M, Homedan C, Loiseau D, et al. Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics. 2010;11:127-33 pubmed publisher
    Charcot-Marie-Tooth type 2A disease (CMT2A), a dominantly inherited peripheral neuropathy, is caused by mutations in MFN2, a mitochondrial fusion protein...
  16. Nicholson G, Magdelaine C, Zhu D, Grew S, Ryan M, Sturtz F, et al. Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology. 2008;70:1678-81 pubmed publisher
    ..Most cases are sporadic single cases. Some have heterozygous mitofusin 2 (MFN2) mutations, many of which are de novo dominant mutations...
  17. Yasukawa K, Oshiumi H, Takeda M, Ishihara N, Yanagi Y, Seya T, et al. Mitofusin 2 inhibits mitochondrial antiviral signaling. Sci Signal. 2009;2:ra47 pubmed publisher
    ..Here, we report that mitofusin 2 (Mfn2), a mediator of mitochondrial fusion, interacts with MAVS to modulate antiviral immunity...
  18. Amiott E, Lott P, Soto J, Kang P, McCaffery J, DiMauro S, et al. Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations. Exp Neurol. 2008;211:115-27 pubmed publisher
    ..We have utilized primary fibroblasts from CMT2A patients to survey mitochondrial phenotypes associated with heterozygous MFN2 alleles expressed at physiological ..
  19. Engelfried K, Vorgerd M, Hagedorn M, Haas G, Gilles J, Epplen J, et al. Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). BMC Med Genet. 2006;7:53 pubmed
    Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.
  20. de Brito O, Scorrano L. Mitofusin 2 tethers endoplasmic reticulum to mitochondria. Nature. 2008;456:605-10 pubmed publisher
    ..Here we show that mitofusin 2, a mitochondrial dynamin-related protein mutated in the inherited motor neuropathy Charcot-Marie-Tooth type IIa,..
  21. Tanaka A, Cleland M, Xu S, Narendra D, Suen D, Karbowski M, et al. Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin. J Cell Biol. 2010;191:1367-80 pubmed publisher
    ..Here we show that ubiquitination of mitofusins Mfn1 and Mfn2, large GTPases that mediate mitochondrial fusion, is induced by Parkin upon membrane depolarization and leads to ..
  22. Lawson V, Graham B, Flanigan K. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology. 2005;65:197-204 pubmed
    ..Recently, mutations in the MFN2 gene, encoding the mitochondrial GTPase mitofusin 2 (Mfn2), have been identified as causative of CMT2A in seven families...
  23. Zuchner S, De Jonghe P, Jordanova A, Claeys K, Guergueltcheva V, Cherninkova S, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol. 2006;59:276-81 pubmed
    ..Reports of affected families have indicated autosomal dominant and recessive forms, but the genetic cause of this disease has remained elusive...
  24. Wang Z, Liu Y, Liu J, Liu K, Wen J, Wen S, et al. HSG/Mfn2 gene polymorphism and essential hypertension: a case-control association study in Chinese. J Atheroscler Thromb. 2011;18:24-31 pubmed
    b>Hyperplasia suppressor gene/mitofusion-2 (HSG/Mfn2) is a hyperplasia suppressor gene and an essential component of mitochondrial fusion machinery; however, the association between the single nucleotide polymorphism (SNP) of HSG/Mfn2 and ..
  25. Santel A, Fuller M. Control of mitochondrial morphology by a human mitofusin. J Cell Sci. 2001;114:867-74 pubmed
    ..We have identified two human genes encoding potential mediators of mitochondrial fusion. The mitofusins (Mfn1 and Mfn2) are homologs of the Drosophila protein fuzzy onion (Fzo) that associate with mitochondria and alter mitochondrial ..
  26. Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martinez Matos J, et al. Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet. 2010;47:249-56 pubmed publisher
    ..form of axonal Charcot-Marie-Tooth (CMT) disease is type 2A, caused by mutations in the mitochondrial GTPase mitofusin 2 (MFN2)...
  27. Cartoni R, Martinou J. Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. Exp Neurol. 2009;218:268-73 pubmed publisher
    ..CMT2A has been recently linked to mutations in the mitofusin 2 (Mfn2) gene...
  28. Herrera Cruz M, Simmen T. Of yeast, mice and men: MAMs come in two flavors. Biol Direct. 2017;12:3 pubmed publisher
    ..This article was reviewed by Paola Pizzo (nominated by Luca Pellegrini), Maya Schuldiner and György Szabadkai (nominated by Luca Pellegrini). ..
  29. Lou Y, Zhang Y, Li R, Gu P, Xiong L, Zhong H, et al. Transcriptional profiling revealed the anti-proliferative effect of MFN2 deficiency and identified risk factors in lung adenocarcinoma. Tumour Biol. 2016;37:8643-55 pubmed publisher
    Mitofusin-2 (MFN2) was initially identified as a hyperplasia suppressor in hyper-proliferative vascular smooth muscle cells (VSMCs) of hypertensive rat arteries, which has also been implicated in various cancers...
  30. Simon L, Chen E, Edelstein L, Kong X, Bhatlekar S, Rigoutsos I, et al. Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2. Am J Hum Genet. 2016;98:883-897 pubmed publisher
    ..published GWASs, we found that the trait-associated variant rs1474868 coincides with the eQTL peak for mitofusin 2 (MFN2)...
  31. Ouvrier R, Grew S. Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. Dev Med Child Neurol. 2010;52:328-30 pubmed publisher
    b>Mitofusin 2, a large transmembrane GTPase located in the outer mitochondrial membrane, promotes membrane fusion and is involved in the maintenance of the morphology of axonal mitochondria...
  32. Liang H, Sun Q, Zhen Y, Li F, Xu Y, Liu Y, et al. The differentiation of amniotic fluid stem cells into sweat glandlike cells is enhanced by the presence of Sonic hedgehog in the conditioned medium. Exp Dermatol. 2016;25:714-20 pubmed publisher
    ..into sweat glandlike (hAFS-SG) cells based on the use of conditioned medium (CM) from the human sweat gland (hSG) cells...
  33. Harel T, Yoon W, Garone C, Gu S, Coban Akdemir Z, Eldomery M, et al. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016;99:831-845 pubmed publisher
    ..ATAD3A variation represents an additional link between mitochondrial dynamics and recognizable neurological syndromes, as seen with MFN2, OPA1, DNM1L, and STAT2 mutations.
  34. Chandhok G, Lazarou M, Neumann B. Structure, function, and regulation of mitofusin-2 in health and disease. Biol Rev Camb Philos Soc. 2017;: pubmed publisher
    ..roles of key regulators of fusion and fission and led to the identification of additional functions of Mfn2 in mitochondrial metabolism, cell signalling, and apoptosis...
  35. Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, et al. SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. EMBO Mol Med. 2016;8:1019-38 pubmed publisher
    ..SLC25A46 is an integral outer membrane protein that interacts with MFN2, OPA1, and the mitochondrial contact site and cristae organizing system (MICOS) complex...
  36. Lv H, Wang L, Zhang W, Wang Z, Zuo Y, Liu J, et al. A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A. J Neurol Sci. 2015;358:153-7 pubmed publisher
    Charcot-Marie-Tooth 2A (CMT2A) is caused by mutations in mitochondrial fusion protein mitofusin 2 (MFN2). CMT2A had a large variety of clinical symptoms and several cohort studies were published recently...
  37. Biel T, Lee S, Flores Toro J, Dean J, Go K, Lee M, et al. Sirtuin 1 suppresses mitochondrial dysfunction of ischemic mouse livers in a mitofusin 2-dependent manner. Cell Death Differ. 2016;23:279-90 pubmed publisher
    ..Biochemical approaches revealed that SIRT1 interacts with mitofusin-2 (MFN2). Furthermore, MFN2, but not MFN1, was deacetylated by SIRT1...
  38. Mattie S, Riemer J, Wideman J, McBride H. A new mitofusin topology places the redox-regulated C terminus in the mitochondrial intermembrane space. J Cell Biol. 2018;217:507-515 pubmed publisher
    ..This newly predicted topology of Mfn1 and Mfn2 was demonstrated biochemically, confirming that the C-terminal, redox-sensitive cysteine residues reside within the ..
  39. Mahdaviani K, Benador I, Su S, Gharakhanian R, Stiles L, Trudeau K, et al. Mfn2 deletion in brown adipose tissue protects from insulin resistance and impairs thermogenesis. EMBO Rep. 2017;18:1123-1138 pubmed publisher
    ..We report that the mitochondrial fusion protein Mitofusin 2 (Mfn2) in BAT is essential for cold-stimulated thermogenesis, but promotes insulin resistance in obese mice...
  40. Kumar S, Pan C, Shah N, Wheeler S, Hoyt K, Hempel N, et al. Activation of Mitofusin2 by Smad2-RIN1 Complex during Mitochondrial Fusion. Mol Cell. 2016;62:520-31 pubmed publisher
    ..Here we report that Smad2 is a critical determinant of mitochondrial dynamics. We identified mitofusin2 (MFN2) and Rab and Ras Interactor 1 (RIN1) as new Smad2 binding partners required for mitochondrial fusion...
  41. Gautier C, Erpapazoglou Z, Mouton Liger F, Muriel M, Cormier F, Bigou S, et al. The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations. Hum Mol Genet. 2016;25:2972-2984 pubmed
    ..Subcellular fractionation showed the abundance of the Parkin substrate mitofusin 2 (Mfn2), which is known to modulate the ER-mitochondria interface, to be specifically higher in the ..
  42. Li J, Kanasaki M, Xu L, Kitada M, Nagao K, Adachi Y, et al. A ketogenic amino acid rich diet benefits mitochondrial homeostasis by altering the AKT/4EBP1 and autophagy signaling pathways in the gastrocnemius and soleus. Biochim Biophys Acta Gen Subj. 2018;1862:1547-1555 pubmed publisher
    ..ameliorated HFD-impaired mitochondrial morphology and mitochondrial function, characterized by decreased mitofusin 2, optic atrophy 1, peroxisome proliferator-activated receptor (PPAR) ? coactivator-1? and PPAR? levels and ..
  43. Kawakami M, Ishikawa H, Tanaka A, Mataga I. Induction and differentiation of adipose-derived stem cells from human buccal fat pads into salivary gland cells. Hum Cell. 2016;29:101-10 pubmed publisher
    ..adipose-derived stem cells isolated from buccal fat pads (hBFP-ASCs) with human salivary-gland-derived fibroblasts (hSG-fibros). We examined their potential for transplantation and tissue neogenesis...
  44. Kim T, Lee S, Park Y, Park S, Oh B, Park Y, et al. Opa-interacting protein 5 modulates docetaxel-induced cell death via regulation of mitophagy in gastric cancer. Tumour Biol. 2017;39:1010428317733985 pubmed publisher
    ..We also found that the mitochondrial outer membrane proteins mitofusin 2 and phosphatase and tensin homolog-induced putative kinase 1 colocalized with Neisseria gonorrhoeae opacity-..
  45. Zheng L, Bernard Marissal N, Moullan N, D Amico D, Auwerx J, Moore D, et al. Parkin functionally interacts with PGC-1? to preserve mitochondria and protect dopaminergic neurons. Hum Mol Genet. 2017;26:582-598 pubmed publisher
    ..PGC-1? enhances Mfn2 transcription, but also leads to increased degradation of the Mfn2 protein, a key ubiquitylation target of Parkin ..
  46. Saita S, Ishihara T, Maeda M, Iemura S, Natsume T, Mihara K, et al. Distinct types of protease systems are involved in homeostasis regulation of mitochondrial morphology via balanced fusion and fission. Genes Cells. 2016;21:408-24 pubmed publisher
    ..or Mff, or by over-expression of MiD49 or MiD51, results in a reduction in the fusion GTPase mitofusins (Mfn1 and Mfn2) in outer membrane and long form of OPA1 (L-OPA1) in inner membrane...
  47. Ugun Klusek A, Tatham M, Elkharaz J, Constantin Teodosiu D, Lawler K, Mohamed H, et al. Continued 26S proteasome dysfunction in mouse brain cortical neurons impairs autophagy and the Keap1-Nrf2 oxidative defence pathway. Cell Death Dis. 2017;8:e2531 pubmed publisher
    ..Our study reveals novel insights into the interplay between the UPS and autophagy in neurons and is imperative to understanding neurodegenerative disease where long-term proteasome inhibition has been implicated. ..
  48. Altanbyek V, Cha S, Kang G, Im D, Lee S, Kim H, et al. Imbalance of mitochondrial dynamics in Drosophila models of amyotrophic lateral sclerosis. Biochem Biophys Res Commun. 2016;481:259-264 pubmed publisher
    ..the mitochondrial fission defects were rescued by co-expression of mitochondrial dynamics regulatory genes such as Marf, Opa1, and the dominant negative mutant form of Drp1...
  49. Wang Y, Han W, Jiang M, Lu C, Li X, Zhang X, et al. A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease. Genet Mol Res. 2012;11:1454-9 pubmed publisher
    ..At present, more than 30 loci have been reported to be associated with CMT disease; point mutations in the mitofusin 2 (MFN2) gene is one of the most common causes...
  50. Mei Y, Pan Z, Chen W, Xu M, Zhu D, Yu Y, et al. A Flavonoid Compound Promotes Neuronal Differentiation of Embryonic Stem Cells via PPAR-? Modulating Mitochondrial Energy Metabolism. PLoS ONE. 2016;11:e0157747 pubmed publisher
    ..Interestingly, we found that mitochondrial fusion protein Mfn2 was also abolished by sh-PPAR-?, resulting in abnormal mitochondrial Ca2+ ([Ca2+]M) transients as well as impaired ..
  51. Xu A, Zhang D, Wang M, Long J. The analysis of factors influencing the success of diagnosing salpingemphraxis by x-ray hysterosalpingography. Eur Rev Med Pharmacol Sci. 2016;20:2764-8 pubmed
    The factors influencing the diagnosing of salpingemphraxis by X-ray hysterosalpingography (HSG) are identified and summarized, to provide a reference for improving the precision of the diagnosis procedure...
  52. Strickland A, Rebelo A, Zhang F, Price J, Bolon B, Silva J, et al. Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model. J Peripher Nerv Syst. 2014;19:152-64 pubmed publisher
    ..As mutations in several genes cause axonal degeneration in CMT type 2, mutations in mitofusin 2 (MFN2) account for approximately 90% of the most severe cases, making it the most common cause of inherited ..
  53. Mukherjee R, Chakrabarti O. Regulation of Mitofusin1 by Mahogunin Ring Finger-1 and the proteasome modulates mitochondrial fusion. Biochim Biophys Acta. 2016;1863:3065-3083 pubmed publisher
    ..These findings suggest a sequence of events where GTPase activity of Mfn1 and tethering of adjacent mitochondria precedes its MGRN1-mediated ubiquitination and proteasomal degradation culminating in mitochondrial fusion. ..
  54. Fielding J. MR imaging of the female pelvis. Radiol Clin North Am. 2003;41:179-92 pubmed
    ..In many cases, it follows the performance of HSG or US. These cases include infertility and pelvic pain. In some cases, it should serve as the test of choice...
  55. Ding Y, Gao H, Zhao L, Wang X, Zheng M. Mitofusin 2-deficiency suppresses cell proliferation through disturbance of autophagy. PLoS ONE. 2015;10:e0121328 pubmed publisher
    Mitofusin2 (Mfn2), a mitochondrial outer membrane protein serving primarily as a mitochondrial fusion protein, has multiple functions in regulating cell biological processes...
  56. Pagliuso A, Cossart P, Stavru F. The ever-growing complexity of the mitochondrial fission machinery. Cell Mol Life Sci. 2018;75:355-374 pubmed publisher
    ..In human cells, mitochondrial fusion is regulated by the large, evolutionarily conserved GTPases Mfn1 and Mfn2, which are embedded in the mitochondrial outer membrane, and by OPA1, embedded in the mitochondrial inner membrane...
  57. Cartoni R, Leger B, Hock M, Praz M, Crettenand A, Pich S, et al. Mitofusins 1/2 and ERRalpha expression are increased in human skeletal muscle after physical exercise. J Physiol. 2005;567:349-58 pubmed
    ..To address if Mfn proteins are implicated in these exercise-induced responses, we measured Mfn1 and Mfn2 mRNA levels, pre-, post-, 2 and 24 h post-exercise...
  58. Liu N, Wu J, Zhang L, Gao Z, Sun Y, Yu M, et al. Hydrogen Sulphide modulating mitochondrial morphology to promote mitophagy in endothelial cells under high-glucose and high-palmitate. J Cell Mol Med. 2017;21:3190-3203 pubmed publisher
    ..S facilitated Parkin recruited by PINK1 by immunoprecipitation and immunostaining assays and then ubiquitylated mitofusin 2 (Mfn2), which illuminated the mechanism of exogenous H2 S on mitophagy...
  59. Feely S, Laura M, Siskind C, Sottile S, Davis M, Gibbons V, et al. MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology. 2011;76:1690-6 pubmed publisher
    Charcot-Marie-Tooth disease type 2A (CMT2A), the most common form of CMT2, is caused by mutations in the mitofusin 2 gene (MFN2), a nuclear encoded gene essential for mitochondrial fusion and tethering the endoplasmic reticulum to ..
  60. Wu Z, Yao Y, Hong G, Xu X, Liu Y, Dong N, et al. Role of mitofusin-2 in high mobility group box-1 protein-mediated apoptosis of T cells in vitro. Cell Physiol Biochem. 2014;33:769-83 pubmed publisher
    ..Overexpression of Mfn2 was preformed by lentiviral vector transfection...
  61. Zhang Y, Du Q, Qiu X, Tian X, Fang W. [Over expression of hyperplasia suppressor gene inhibits the malignant phenotype of breast cancer cell]. Zhonghua Bing Li Xue Za Zhi. 2010;39:259-63 pubmed
    To investigate the effect of over expression of human hyperplasia suppressor gene (HSG) on proliferation, invasion, apoptosis and cell cycle of human breast cancer cells and to determine the relationship between HSG and Ras-dependent ..
  62. Pawlikowska P, Orzechowski A. [Role of transmembrane GTPases in mitochondrial morphology and activity]. Postepy Biochem. 2007;53:53-9 pubmed
    ..Among them Drp1, Mfn1, Mfn2 and Opal are considered the most important...
  63. Lundby C, Montero D, Gehrig S, Andersson Hall U, Kaiser P, Boushel R, et al. Physiological, biochemical, anthropometric, and biomechanical influences on exercise economy in humans. Scand J Med Sci Sports. 2017;27:1627-1637 pubmed publisher
    ..properties (volume density, oxidative capacity, or mitochondrial efficiency), or protein content (UCP3 and MFN2 expression) explained variation in cycling and running EE among subjects...
  64. Singaravelu K, Nelson C, Bakowski D, de Brito O, Ng S, Di Capite J, et al. Mitofusin 2 regulates STIM1 migration from the Ca2+ store to the plasma membrane in cells with depolarized mitochondria. J Biol Chem. 2011;286:12189-201 pubmed publisher
    ..We identify the dynamin-related mitochondrial protein mitofusin 2, mutations of which causes the inherited neurodegenerative disease Charcot-Marie-Tooth IIa in humans, as an ..
  65. Boaretto F, Vettori A, Casarin A, Vazza G, Muglia M, Rossetto M, et al. Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation. Neurology. 2010;74:1919-21 pubmed publisher
  66. Parry J, Riche D, Rushing J, Linton B, Butler V, Lindheim S. Performing the Parryscope technique gently for office tubal patency assessment. Fertil Steril. 2017;108:718 pubmed publisher
    ..We also provide data addressing pain and patient experience relative to hysterosalpingography (HSG). Video presentation of clinical technique with supportive crossover data (Canadian Task Force classification II-1)...
  67. Harmon M, Larkman P, Hardingham G, Jackson M, Skehel P. A Bi-fluorescence complementation system to detect associations between the Endoplasmic reticulum and mitochondria. Sci Rep. 2017;7:17467 pubmed publisher
    ..by this approach increases in response to tunicamycin-induced ER stress, serum deprivation or reduced levels of mitofusin 2 (MFN2)...
  68. Bhargava S, Patel T, Gaikwad R, Patil U, Gayen S. Identification of structural requirements and prediction of inhibitory activity of natural flavonoids against Zika virus through molecular docking and Monte Carlo based QSAR Simulation. Nat Prod Res. 2017;:1-7 pubmed publisher
    ..The best QSAR model was obtained using SMILES descriptors and HSG descriptors with 1EC connectivity with the following statistical parameters: R2 = 0...
  69. Cormio A, Musicco C, Gasparre G, Cormio G, Pesce V, Sardanelli A, et al. Increase in proteins involved in mitochondrial fission, mitophagy, proteolysis and antioxidant response in type I endometrial cancer as an adaptive response to respiratory complex I deficiency. Biochem Biophys Res Commun. 2017;491:85-90 pubmed publisher
    ..CLPP, in the antioxidant and anti-apoptotic protein ALR and in Bcl-2 as well as a decrease in the fusion protein Mfn2 were found in cancer compared to matched non malignant tissue...
  70. Brožková D, Posadka J, Lassuthová P, Mazanec R, Haberlova J, Siskova D, et al. Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. Mol Med Rep. 2013;8:1779-84 pubmed publisher
    ..Mitofusin?2 (MFN2) gene mutations are the most frequent cause of axonal CMT disorders in a number of populations...
  71. Khalil B, Cabirol Pol M, Miguel L, Whitworth A, Lecourtois M, Liévens J. Enhancing Mitofusin/Marf ameliorates neuromuscular dysfunction in Drosophila models of TDP-43 proteinopathies. Neurobiol Aging. 2017;54:71-83 pubmed publisher
    ..is correlated with a specific decrease in the mRNA and protein levels of the Drosophila profusion gene mitofusin/marf. Importantly, overexpression of Marf ameliorates defects in spontaneous walking activity and startle-induced ..
  72. Rocha N, Bulger D, Frontini A, Titheradge H, Gribsholt S, Knox R, et al. Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. elife. 2017;6: pubmed publisher
    MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication...
  73. Gastaldi G, Russell A, Golay A, Giacobino J, Habicht F, Barthassat V, et al. Upregulation of peroxisome proliferator-activated receptor gamma coactivator gene (PGC1A) during weight loss is related to insulin sensitivity but not to energy expenditure. Diabetologia. 2007;50:2348-55 pubmed
    ..proliferator-activated receptor gamma coactivator-1 (PGC1A; also known as PPARGC1A) and its target mitofusin-2 (MFN2), as well as carnitine palmitoyltransferase-1 (CPT1; also known as carnitine palmitoyltransferase 1A [liver] [CPT1A]..
  74. Bergamin G, Boaretto F, Briani C, Pegoraro E, Cacciavillani M, Martinuzzi A, et al. Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. Neuromolecular Med. 2014;16:540-50 pubmed publisher
    ..To date, more than 50 CMT genes have been identified, but more than half of the cases are due to mutations in MFN2, MPZ, GJB1 and PMP22...
  75. Mingrone G, Manco M, Calvani M, Castagneto M, Naon D, Zorzano A. Could the low level of expression of the gene encoding skeletal muscle mitofusin-2 account for the metabolic inflexibility of obesity?. Diabetologia. 2005;48:2108-14 pubmed
    ..b>Mitofusin 2 (MFN2), a mitochondrial membrane protein, seems to contribute to the maintenance and operation of the ..
  76. Song M, Franco A, Fleischer J, Zhang L, Dorn G. Abrogating Mitochondrial Dynamics in Mouse Hearts Accelerates Mitochondrial Senescence. Cell Metab. 2017;26:872-883.e5 pubmed publisher
    ..Compared to fusion-defective Mfn1/Mfn2 cardiac knockout or fission-defective Drp1 cardiac knockout mice, Mfn1/Mfn2/Drp1 cardiac triple-knockout mice ..
  77. Xie Y, Li X, Liu L, Hu Z, Huang S, Zhan Y, et al. MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients. J Peripher Nerv Syst. 2016;21:38-44 pubmed publisher
    Charcot-Marie-Tooth disease 2A (CMT2A), caused by mutations in the mitofusin 2 gene (MFN2), is the most common CMT2 subtype...
  78. Yang L, Wang Y, Yang S, Lv Z. Separation, purification, structures and anticoagulant activities of fucosylated chondroitin sulfates from Holothuria scabra. Int J Biol Macromol. 2018;108:710-718 pubmed publisher
    In this study, a new fucosylated chondroitin sulfate (HsG) with an average molecular weight of 69.1?kDa was isolated from sea cucumber Holothuria scabra...
  79. Lu C, Guo Y, Zhang Y, Yang L, Chang Y, Zhang J, et al. Coenzyme Q10 ameliorates cerebral ischemia reperfusion injury in hyperglycemic rats. Pathol Res Pract. 2017;213:1191-1199 pubmed publisher
    ..The expression of Fis1, Mfn2 and Lc3 in the brain is investigated by immunohistochemical and Western blotting techniques...