Property Summary

NCBI Gene PubMed Count 139
PubMed Score 415.43
PubTator Score 296.28

Knowledge Summary


No data available


  Differential Expression (9)

Disease log2 FC p
osteosarcoma 2.037 4.0e-05
glioblastoma 1.100 2.1e-02
medulloblastoma, large-cell 1.400 6.4e-04
limb girdle muscular dystrophy 2B -1.133 4.5e-04
Amyotrophic Lateral Sclerosis -1.009 4.3e-04
group 4 medulloblastoma 1.300 1.2e-02
aldosterone-producing adenoma -1.086 4.1e-02
Gaucher disease type 1 -1.700 6.3e-03
dermatomyositis -1.100 2.6e-02

Protein-protein Interaction (6)

Gene RIF (122)

26942197 These results suggest that defects in Mfn2 could cause mitochondrial dysfunction and decrease trophoblastic cells' viability
26916081 family study of early onset severe axonal Charcot-Marie-Tooth disease with dominant inheritance - SNP mutation in MFN2
26845057 Our findings provide new insight into the mechanism underlying Mitofusin-2 regulation and the potential role of miR-761 in tocellular carcinoma, making it a potential candidate for use in HCC therapy in the future
26816493 This study demonstrated that Mfn2 gene polymorphisms were associated with essential hypertension in northern Han Chinese population, especially in male subjects
26581383 The results of this study suggested that the MFN2 gene should be considered in Polish hereditary motor-sensory neuropathiey II patients.
26566676 downregulationof expression is caused by activation of resting peripheral blood T cells
26446920 Report exposes a novel role for Shh in regulating mitochondrial dynamics and rescue the metabolic profile of tumor cells through regulation of mitofusin 1 and 2.
26307536 increased expression of miR-214 observed in a Huntington disease cell model could target MFN2, altered mitochondrial morphology and deregulated cell cycle
26143526 Mutations in the gene encoding MFN2 are associated with Charcot-Marie-Tooth disease type 2A and MFN2 is involved in several intracellular pathways that interact to regulate the mitochondrial network within cells.
26114802 A deletion of exons 7 and 8 is a founder mutation in MFN2 in the UK population.
26085578 These findings show that homozygous mutations at p.R707W in MFN2 are a novel cause of multiple symmetrical lipomatosis.
25870285 a new model for ER-mitochondria juxtaposition in which Mfn2 works as a tethering antagonist preventing an excessive, potentially toxic, proximity between the two organelles.
25796500 Mitofusin-2 over-expression leads to dysregulation of cell cycle and cell invasion in lung adenocarcinoma.
25781899 findings revealed the role of Mfn2 in regulating cell proliferation and mitochondrial metabolism, and shed new light on understanding the mechanisms of Mfn2 deficiency related diseases.
25567790 Mfn2 controls cell metabolism and insulin signaling by limiting reactive oxygen species production and by modulation of endoplasmic reticulum stress. [review]
25541060 we confirmed that Mfn2 induced apoptosis in HCC cells by triggering influx of Ca(2+) into the mitochondria from the ER.
25064321 increased expression levels of mitofusin 2 (Mfn2) are markedly induced by oxidative stress in Mild cognitive impairment-derived mitochondria along with aberrant mitochondrial functions.
24928385 atherosclerotic lesions of both mice and human compared with healthy counterparts. Here, we observed that Mfn2 increased cellular cholesterol transporter expression in macrophages by upregulating peroxisome proliferator-activated receptor-gamma.
24863639 MFN2 mutations caused about 6% of CMT in Korean families (22.5% of CMT2). Disease phenotypes were considerably varied with 42% severe, 18% moderate and 34% mild cases.
24862862 This study demonistrated that the mitofusin 2 R94W mutation knoxk in mouse show histopathology and age-dependent open-field test abnormalities.
24819634 The MFN2 gene was the most common cause of CMT2 in a cohort of 38 Italian patients. 11 mutations were identified, 8 of which were novel.
24662494 HMGB1 can trigger apoptosis of T lymphocytes through mitochondrial death pathway associated with [Ca(2+)]i elevation. Mfn2 plays a pivotal role in this process, and it might be a novel therapeutic target in T cell apoptosis related disorders.
24503793 Frequent loss of heterozygosity in the mitofusin 2 gene exists in hepatocellular carcinoma. Loss of heterozygosity, which represents a tumor suppressor gene pathway, may play a critical role in the occurrence and development of hepatocellular carcinoma.
24361166 results suggest that mitofusin-2 protein may affect the synthesis of procollagen of fibroblasts in postmenopausal patients with pelvic organ prolapse (POP); changes in Mfn2 and procollagen expression may play a role in the development of POP
24126688 The frequency of the pathogenic mutations in MFN2 gene detected in Czech hereditary motor and sensory neuropathy type II (HMSN II) patients was 7.2%.
24081906 Data provide new insights regarding the role of Mfn2 in controlling cellular proliferation.
23941871 Mfn2 regulates metabolism independently of changes in mitochondrial morphology.
23929728 A novel mutation of the mitofusin 2 gene is found in a family with Charcot-Marie-Tooth disease type 2.
23906296 Downregulation of MFN2 gene expression is associated with colorectal cancer.
23831624 Adequate copper levels are essential for maintaining mitochondrial function and for erythroid differentiation where the energy metabolic switch plus up-regulation of fusion proteins MFN2 and OPA1 define an adaptive response to copper deprivation.
23727017 MITOL regulates ER tethering to mitochondria by activating Mfn2 via K192 ubiquitination.
23601695 Mitochondrial morphologic functional changes were observed in trophoblasts, and in relation with apoptosis, may be correlated with low levels of Mfn2. Deficient expression of Mfn2 in trophoblastic cells could be an important cause of early miscarriage.
23588792 Mfn2 affects the proliferation and migration of human breast cancer cells.
23549803 5'-UCR -1248 A>G variation of Mfn2/HSG gene is a novel variation associated with hypertension in Chinese.
22957060 mfn2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology
22926664 MFN2 mutations alter mitochondrial oxidative phosphorylation by affecting mtDNA replication
22778543 Five tag-SNPs in MFN2 gene were selected and genotyped in type 2 diabetes in Han Chinese. Two MFN2 SNPs were significantly associated with T2D (P = 0.005 and 0.01) in stage 1 populations, and the association of other SNPs with T2D was not found.
22762946 The novel mutation in MFN2 found in this study broadens the genotypic spectrum associated with MFN2 related Charcot-Marie-Tooth disease Type 2A2
22748923 The stability of a nonphosphorylatable mitofusin 2 mutant is unaffected by stress and protective against apoptosis.
22653593 Data revealed a missense mutation (NM_014874.3:c.1066 A>G) in the MFN2 gene, resulting in an animo acid substitution of threonine to alanine in condon 356 (Thr356Ala). This is a novel phenotype and mutation for Charcot-Marie-Tooth family.
22546700 A French family with Charcot-Marie-Tooth disease is related to simultaneous heterozygous MFN2 and GDAP1 mutations.
22526351 A report of a novel double mutation in cis in MFN2 (c.[474+4A>G; 668T>A]) in a Korean family with late-onset autosomal dominant mild axonal Charcot-Marie-Tooth neuropathy.
22510407 These results indicate that HBx impacts p53-mediated transcription of Mfn2, providing insight into the negative effect of HBx against p53-dependent chemotherapeutic agents, such as doxorubicin, used in the treatment of hepatocellular carcinoma.
22442078 This experiments provided evidence that Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.
22438978 Vpr-mediated cellular damage may occur on an alternative protein transport pathway from the ER, via mitochondria-associated membranes to the mitochondria, which are modulated by Mfn2 and DRP1.
22438978 HIV-1 Vpr significantly downregulates expression level of MFN2 in the mitochondria via VprBP-DDB1-CUL4A ubiquitin ligase in a proteasome-dependent manner
22253285 Sp1 is a key factor in maintaining basal Mfn2 transcription in vascular smooth muscle cells.
22189565 Contrary to previous studies in patients with Charcot-Marie-Tooth disease type 2A, fibroblasts carrying the MFN2 mutation present with a respiratory chain deficiency, a fragmentation of the mitochondrial network and a reduction of MFN2 protein expression
21987543 This study demonistrated that Novel MFN2 mutation Leu146Phe causes Charcot-Marie-Tooth type 2A2.
21913423 Here, we aim to show that mitofusin 2 is a protein crucial not only for peripheral nerve disorders but is a one of the common regulator of cell metabolism. [review]
21892769 This study provided that two distantly related CMT1 patients with early disease onset were found to carry a novel homozygous mutation in MFN2 (p.N131S).
21839087 mitochondrial dynamics, particularly those mediated by the mitofusins, play a role in endothelial cell function and viability.
21715711 findings confirm that MFN2 mutations can cause early-onset Charcot-Marie-Tooth disease with apparent recessive inheritance; novel genetic findings include an intragenic MFN2 deletion and nonsense-mediated decay; carrier parents were asymptomatic
21508331 We find MFN2 mutations particularly likely to cause severe neuropathy that may be primarily motor or motor accompanied by prominent proprioception loss in Charcot-Marie-Tooth disease type 2A
21408142 The impact of mutations in endogenous PINK1 and Parkin on the ubiquitination of mitochondrial fusion and fission factors and the mitochondrial network structure, was investigated.
21258814 The results of this study confirmed a MFN2 mutation rate of ~15-20% in CMT2.
21220420 Mitofusin 2 regulates STIM1 migration from the Ca2+ store to the plasma membrane in cells with depolarized mitochondria.
21190094 the mfn2 gene is a potential tumor suppressor target
21173115 Mitofusin degradation by mitochondria-associated Parkin inhibits the fusion of damaged mitochondria with healthy mitochondria to facilitate the selective elimination of the former by autophagy.
20940517 The genetic variations of HSG/Mfn2 may be associated with hypertension in male Chinese
20940517 Observational study of gene-disease association. (HuGE Navigator)
20936726 LOH at Mfn2 in hepatocellular carcinoma was closely correlated with tumor size, age, capsule, differentiation and HBV infection.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20871098 Ubiquitination of several mitochondrial proteins, including mitofusin 1 and mitofusin 2 were reduced following the silencing of parkin or PINK1.
20819609 Data reported a patient with clinical diagnosis of CMT2 caused by a novel MFN2 mutation.
20804729 These results indicate that Mfn2 is a novel p53-inducible target gene, which provides insight into the regulation of Mfn2 and its associated activities in the inhibition of cell proliferation, promotion of apoptosis, and modulation of tumor suppression.
20803103 Mfn2 overexpression in tumor cells significantly inhibited cell proliferation, by arresting the transition of the cell cycle from the G(1) to S phase.
20654126 HSG exibits multiple anticancer functions in breast cancer cells including inhibition of proliferation and in vitro invasion, G(0)/G(1) arrest and promotion of apoptosis.
20587496 brain MRI study was performed on 18 early-onset Charcot Marie Tooth patients with MFN2 mutations, and a high frequency (39%) of brain abnormalities was found
20580691 results show that increased expression of Mfn2 and mitochondrial fusion are important for mitochondrial function as well as cell survival during cold stress.
20530328 splice site mutation in the MFN2 gene is associated with an unusually severe phenotype characterized by late onset, rapidly progressing neuropathy, and fatal encephalopathy
20514460 HSG is a potential therapy for tumors and possibly other proliferative diseases as well; it has antitumor efficacy on hepatocellular carcinoma by using adenovirus vectors, which may be a new therapeutic target for liver cancer prevention.
20418531 Link between an increased number of mitochondria in axons and a shift in axonal size distribution in mitofusin 2(R94Q) transgenic animals that may contribute to their neurological phenotype.
20350294 The identified known and novel point mutations in the MFN2 gene expand the clinical spectrum from CMT (Charcot-Marie-Tooth disease)2 and intermediate CMT to also include possibly CMT1 and the distal Hereditary Motor Neuropathy phenotypes.
20350294 Observational study of gene-disease association. (HuGE Navigator)
20339081 the NIC-Akt-Mfn signaling cascade identifies a pathway regulating cell-survival, independent of canonical functions associated with NIC activity
20335458 These experiments identify a role for mitofusins in directly regulating mitochondrial transport and offer important insight into the cell type specificity and molecular mechanisms of axonal degeneration in CMT2A and dominant optic atrophy.
20193559 Three abnormal sequence variations were found in the MFN2 gene of Charcot-Marie-Tooth disease patients, two missense mutations and one SNP.
20163430 Mutations of the gene encoding mitofusin 2 (MFN2) identified as the cause of approximately one-third of dominantly inherited cases of the axonal degenerative forms of Charcot-Marie-Tooth disease.
20032281 Patients with early-onset type 2 diabetes display abnormalities in the exercise-dependent pathway that regulates the expression of PGC-1alpha and Mfn2.
20008656 Mitofusin 2 mutations are a frequent cause of Charcot-Marie-Tooth disease type 2, with variable severity and either dominant or recessive inheritance.
20008656 Observational study of gene-disease association. (HuGE Navigator)
19889647 Study found twenty-four Charcot-Marie-Tooth (CMT) disease patients from 14 different families were identified with nine different MFN2 mutations.
19812251 Results identify diverse effects of CMT2A mutations, including a possible role for Mfn2 ubiquitylation and degradation in CMT2A pathogenesis, and provide evidence for a link between Fzo1 GTP hydrolysis, ubiquitylation, and mitochondrial fusion.
19754948 Observational study of gene-disease association. (HuGE Navigator)
19690333 Data revealed that Mfn2 interacted with the carboxyl-terminal region of MAVS through a heptad repeat region, providing a structural perspective on the regulation of the mitochondrial antiviral response.
19618221 MFN2 plays a role in controlling ATP/ADP exchanges in Charcot-Marie-Tooth type 2A disease
19427854 a role of mutant Mfn2 in neuronal function and physiopathology of Charcot-Marie-Tooth disease type 2A (Review)
19168699 IL-6 induces Bcl-2 expression to perform cytoprotective functions in response to oxygen toxicity, and that this effect is mediated by alterations in the interactions between Bak and Mfn1/Mfn2. Bcl-2 blocked the dissociation of Bak from Mfn2.
19052620 mitofusin 2 tethers ER to mitochondria, a juxtaposition required for efficient mitochondrial Ca(2+) uptake
18974884 A novel role of PGC-1beta in mitochondrial physiology, namely the control of mitochondrial fusion mainly through Mfn2.
18957892 Neurophysiologic findings were most suggestive of axonal degeneration, but some onion bulbs were present in all mitofusin 2 mutations cases. Axonal mitochondria were smaller than normal, were round, and were abnormally aggregated.
18946002 Cognitive impairment may be another feature of the MFN2-related phenotype. The widespread peripheral and CNS involvement, as well as the neurosensorial defects, underline the similarities among MFN2-related and primary mitochondrial disorders.
18490623 early onset stroke without peripheral neuropathy caused by mutation in MFN2
18480994 mitofusin-2 may have a role in inhibiting the proliferation of MCF-7 cells and promoting their sensitivity to camptothecin with a synergic effect
18458227 Severe early-onset axonal neuropathy due to MFN2 mutations can present as an apparently recessively inherited neuropathy but the minimal phenotype in the parents suggests a semi-dominant mechanism.
18425620 Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.
18316077 observations are in agreement with the neuronal specificity of the disease and are consistent with a recent finding that mitochondrial fusion can be maintained in cells that express mutant Mfn2 protein due to complementation by a second mitofusin, Mfn1.
17940179 study reports a novel MFN2 mutation shared by two apparently unrelated Charcot-Marie-Tooth families originating from the same area in Southern Italy
17874344 MFN2 gene mutations were shown to be the most common cause of autosomal dominant hereditary axonopathy. In addition, MFN2 gene mutations were also identified in CMT type 6 (axonal neuropathy with optic nerve atrophy).
17828388 Weight loss upregulates the peroxisome proliferator-activated receptor gamma coactivator gene, which in turn stimulates mitofusin-2 expression, which contributes to the improvement of insulin sensitivity.
17718388 Precise interactions between a few proteins are required for mitochondrial fusion and division. Among them Drp1, Mfn1, Mfn2 and Opal are considered the most important.
17697539 Mitofusin-2 gene can inhibit the proliferation of MCF-7 cells and increase their chemosensitivity to camptothecin.
17537722 a signaling role for Mfn2 in the regulation of apoptosis that extends beyond its role in mitochondrial fusion
17437620 We also suggest that single patients with early-onset axonal polyneuropathies should be screened for MFN2 mutations.
17309650 findings suggest that mutations in the MFN2 gene are an important causative gene underlying Korean patients with Charcot-Marie-Tooth neuropathy type 2
17215403 Charcot-Marie-Tooth disease-associated MFN2 mutant proteins induce abnormal clustering of small fragmented mitochondria in both neuronal cell bodies and proximal axons. Transport of these mitochondria in axons is significantly impaired.
16762064 A significant role of mutations in MFN2 in the pathogenesis of Charcot-Marie-Tooth disease type 2.
16437557 This study identified a unique mutation in the gene mitofusin 2 (MFN2). In three families, the MFN2 mutation occurred de novo; in two families the mutation was subsequently transmitted from father to son indicating autosomal dominant inheritance.
16160866 the significant increase in mitofusin 2 mRNA levels may explain the increase in glucose oxidation observed in morbid obesity
16123358 A study evaluating Mfn2 expression in skeletal muscle from obese or nonobese type 2 diabetic subjects in response to body weight, and the role of TNF-alpha and IL-6 in its regulation is reported.
16087932 Type 2 Charcot Marie Tooth Disease is genetically heterogeneous. It may or may not be caused by mutations in the MFN2 gene.
16083859 HSG plays an essential role in mouse preimplantation development
16043786 Given the frequency of MFN2 mutations among CMT2 probands (3/13, or 23%), genetic testing of CMT2 patients should begin with a screen of the MFN2 gene.
15961417 Mfn1, Mfn2, NRF-2 and COX IV mRNA were increased 24 h post-exercise in skeletal muscle
15878861 Mfn2 is a signaling GTPase regulating mitochondrial fusion; the nucleotide-dependent activation of Mfn2 concomitantly protects the organelle from permeability transition
15829499 Mfn2 triggers mitochondrial energization, at least in part, by regulating OXPHOS expression through signals that are independent of its role as a mitochondrial fusion protein
15382611 Review. Mitofusin-2 stimulates mitochondrial substrate oxidation, respiration & membrane potential.It may play an important role in energy balance. Its expression is repressed in obese skeletal muscle suggesting a posible role in obesity.
15064763 Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
12598526 Mfn2-dependent mechanism of mitochondrial control is disturbed in obesity by reduced Mfn2 expression
12499352 Drp1 and Mfn2, but not other proteins implicated in the regulation of mitochondrial morphology, colocalize with Bax in apoptotic foci
11950885 Results show that Fzo homologs mitofusin 1 and 2 are ubiquitous mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting.

AA Sequence


Text Mined References (141)

PMID Year Title
27059175 2016 SAMM50 Affects Mitochondrial Morphology through the Association of Drp1 in Mammalian Cells.
26942197 2016 Downregulation of Mitofusin 2 in Placenta Is Related to Preeclampsia.
26916081 2016 Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site.
26845057 2016 MicroRNA-761 is upregulated in hepatocellular carcinoma and regulates tumorigenesis by targeting Mitofusin-2.
26816493 2016 The Association of Mitofusion-2 Gene Polymorphisms with Susceptibility of Essential Hypertension in Northern Han Chinese Population.
26581383 2015 Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies.
26566676 2015 Mechanism of Activation-Induced Downregulation of Mitofusin 2 in Human Peripheral Blood T Cells.
26446920 2016 Sonic Hedgehog Signaling Drives Mitochondrial Fragmentation by Suppressing Mitofusins in Cerebellar Granule Neuron Precursors and Medulloblastoma.
26307536 2015 Regulation of mitochondrial morphology and cell cycle by microRNA-214 targeting Mitofusin2.
26143526 2015 MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
26114802 2015 MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
26085578 2015 Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
25870285 2015 Mitofusin 2 ablation increases endoplasmic reticulum-mitochondria coupling.
25796500 2015 Mitofusin-2 over-expresses and leads to dysregulation of cell cycle and cell invasion in lung adenocarcinoma.
25781899 2015 Mitofusin 2-deficiency suppresses cell proliferation through disturbance of autophagy.
25567790 2015 Mitofusin 2 as a driver that controls energy metabolism and insulin signaling.
25541060 2015 Mitofusin-2 triggers mitochondria Ca2+ influx from the endoplasmic reticulum to induce apoptosis in hepatocellular carcinoma cells.
25064321 2014 Oxidative stress-mediated activation of extracellular signal-regulated kinase contributes to mild cognitive impairment-related mitochondrial dysfunction.
24928385 2014 Mitofusin 2 decreases intracellular lipids in macrophages by regulating peroxisome proliferator-activated receptor-?.
24863639 2015 A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.
24862862 2014 Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.
24819634 2014 Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
24662494 2014 Role of mitofusin-2 in high mobility group box-1 protein-mediated apoptosis of T cells in vitro.
24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
24503793 Frequent losses of heterozygosity in the mitofusin 2 gene in hepatocellular carcinoma: their relationship to clinicopathological features.
24361166 2014 Relationship between the expressions of mitofusin-2 and procollagen in uterosacral ligament fibroblasts of postmenopausal patients with pelvic organ prolapse.
24282027 2014 Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily.
24126688 2013 Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
24081906 2014 Role of mitofusin 2 (Mfn2) in controlling cellular proliferation.
23941871 2013 A form of mitofusin 2 (Mfn2) lacking the transmembrane domains and the COOH-terminal end stimulates metabolism in muscle and liver cells.
23929728 2014 Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2.
23921378 2013 Adaptor proteins MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission.
23906296 2013 Cell-cycle arrest at G2/M and proliferation inhibition by adenovirus-expressed mitofusin-2 gene in human colorectal cancer cell lines.
23831624 2013 Copper deficiency alters cell bioenergetics and induces mitochondrial fusion through up-regulation of MFN2 and OPA1 in erythropoietic cells.
23727017 2013 MITOL regulates endoplasmic reticulum-mitochondria contacts via Mitofusin2.
23620051 2013 PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria.
23601695 2013 Low expression of Mfn2 is associated with mitochondrial damage and apoptosis in the placental villi of early unexplained miscarriage.
23588792 2013 Estrogen receptor ? inhibits estradiol-induced proliferation and migration of MCF-7 cells through regulation of mitofusin 2.
23549803 2013 A novel 5'-uncoding region -1248 A>G variation of mitofusin-2 gene is associated with hypertension in Chinese.
23455425 2013 Autophagosomes form at ER-mitochondria contact sites.
22957060 2012 Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.
22926664 2013 Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.
22778543 2012 Association of polymorphisms in mitofusin-2 gene with type 2 diabetes in Han Chinese.
22762946 Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses.
22748923 2012 Stress-induced phosphorylation and proteasomal degradation of mitofusin 2 facilitates mitochondrial fragmentation and apoptosis.
22653593 2012 A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease.
22546700 2012 A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
22526351 2012 A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.
22510407 2012 Hepatitis B virus X protein inhibits p53-mediated upregulation of mitofusin-2 in hepatocellular carcinoma cells.
22442078 2012 Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.
22438978 2012 HIV-1 Vpr triggers mitochondrial destruction by impairing Mfn2-mediated ER-mitochondria interaction.
22253285 2012 The promoter activity of human Mfn2 depends on Sp1 in vascular smooth muscle cells.
22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
22189565 2012 The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
22139419 2011 New gene functions in megakaryopoiesis and platelet formation.
21987543 2011 Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.
21913423 2011 [Mitofusin 2 as a crucial peripheral nervous system protein and a common regulator of cell metabolism].
21892769 2012 SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
21839087 2011 Mitofusins are required for angiogenic function and modulate different signaling pathways in cultured endothelial cells.
21715711 2011 Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
21508331 2011 MFN2 mutations cause severe phenotypes in most patients with CMT2A.
21408142 2011 Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts.
21269460 2011 Initial characterization of the human central proteome.
21258814 2011 Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
21220420 2011 Mitofusin 2 regulates STIM1 migration from the Ca2+ store to the plasma membrane in cells with depolarized mitochondria.
21190094 2012 Pro-apoptotic and anti-proliferative effects of mitofusin-2 via Bax signaling in hepatocellular carcinoma cells.
21173115 2010 Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin.
20940517 2011 HSG/Mfn2 gene polymorphism and essential hypertension: a case-control association study in Chinese.
20936726 2010 [Clinical significance of heterozygosity loss at Mfn2 gene in hepatocellular carcinoma].
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20871098 2010 Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy.
20819609 2010 A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family.
20804729 2010 Mitofusin-2 is a novel direct target of p53.
20803103 2011 Anti-tumour efficacy of mitofusin-2 in urinary bladder carcinoma.
20654126 2010 [Over expression of hyperplasia suppressor gene inhibits the malignant phenotype of breast cancer cell].
20587496 2010 Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement.
20580691 2010 Mitofusin-2 protects against cold stress-induced cell injury in HEK293 cells.
20530328 2010 Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.
20514460 2010 HSG provides antitumor efficacy on hepatocellular carcinoma both in vitro and in vivo.
20418531 2010 Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.
20350294 2010 MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
20339081 2010 Notch-activated signaling cascade interacts with mitochondrial remodeling proteins to regulate cell survival.
20335458 2010 Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex.
20193559 2009 [Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].
20163430 2010 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.
20032281 2010 Subjects with early-onset type 2 diabetes show defective activation of the skeletal muscle PGC-1{alpha}/Mitofusin-2 regulatory pathway in response to physical activity.
20008656 2009 Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
19889647 2010 Phenotypic spectrum of MFN2 mutations in the Spanish population.
19812251 2009 A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover.
19754948 2009 Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.
19690333 2009 Mitofusin 2 inhibits mitochondrial antiviral signaling.
19618221 2010 Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.
19427854 2009 Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A.
19168699 2009 IL-6 protects against hyperoxia-induced mitochondrial damage via Bcl-2-induced Bak interactions with mitofusins.
19052620 2008 Mitofusin 2 tethers endoplasmic reticulum to mitochondria.
18974884 2008 Mitochondrial fusion is increased by the nuclear coactivator PGC-1beta.
18957892 2008 Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.
18946002 2008 Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.
18490623 2008 Early-onset stroke associated with a mutation in mitofusin 2.
18480994 2008 Effects of mitofusin-2 gene on cell proliferation and chemotherapy sensitivity of MCF-7.
18458227 2008 Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.
18425620 2008 Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.
18336293 2008 Mitochondrial dynamics: to be in good shape to survive.
18316077 2008 Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
18092941 2008 Mitofusin 2: a mitochondria-shaping protein with signaling roles beyond fusion.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17940179 2007 A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
17874344 [Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease].
17828388 2007 Upregulation of peroxisome proliferator-activated receptor gamma coactivator gene (PGC1A) during weight loss is related to insulin sensitivity but not to energy expenditure.
17718388 2007 [Role of transmembrane GTPases in mitochondrial morphology and activity].
17697539 2007 [Effects of mitofusin-2 gene on proliferation and chemosensitivity of human breast carcinoma cell line MCF-7].
17537722 2007 Mitofusin 2 protects cerebellar granule neurons against injury-induced cell death.
17437620 2007 Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A).
17309650 2007 Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.
17215403 2007 Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.
17121834 2007 Identification of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein 2.
16936636 2006 MARCH-V is a novel mitofusin 2- and Drp1-binding protein able to change mitochondrial morphology.
16762064 2006 Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16437557 2006 Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
16160866 2005 Could the low level of expression of the gene encoding skeletal muscle mitofusin-2 account for the metabolic inflexibility of obesity?
16123358 2005 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.
16087932 2005 Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.
16083859 2005 Expression of HSG is essential for mouse blastocyst formation.
16043786 2005 Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
15961417 2005 Mitofusins 1/2 and ERRalpha expression are increased in human skeletal muscle after physical exercise.
15878861 2005 Activated mitofusin 2 signals mitochondrial fusion, interferes with Bax activation, and reduces susceptibility to radical induced depolarization.
15829499 2005 The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system.
15549395 2005 Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15382611 [Role of novel mitochondrial proteins in energy balance].
15322553 2004 Dysregulation of HSG triggers vascular proliferative disorders.
15064763 2004 Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12759376 2003 Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells.
12598526 2003 Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity.
12499352 2002 Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11950885 2002 Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.
11181170 2001 Control of mitochondrial morphology by a human mitofusin.
9039502 1996 Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.