Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila

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Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila is …
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scholarly articleQ13442814

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P819ADS bibcode2012PLoSO...744296E
P356DOI10.1371/JOURNAL.PONE.0044296
P8608Fatcat IDrelease_ie73jj6lardjtp4nfaw4lhauzy
P932PMC publication ID3434137
P698PubMed publication ID22957060
P5875ResearchGate publication ID230812239

P2093author name stringYun Chen
Gerald W Dorn
Moshi Song
Poonam Bhandari
William H Eschenbacher
Peter Zhao
Casey C Jowdy
John T Engelhard
P2860cites workReduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutantsQ47072099
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.Q48530136
Images in cardiovascular medicine: in vivo imaging of the adult Drosophila melanogaster heart with real-time optical coherence tomography.Q51165948
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[Charcot-Marie-Tooth disease, dilated myocardiopathy and cardiac conduction disorders]Q64925197
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2AQ81020806
Control of mitochondrial morphology through differential interactions of mitochondrial fusion and fission proteinsQ21091032
Control of mitochondrial morphology by a human mitofusinQ24290831
The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatmentQ27314564
Exercise-training in young Drosophila melanogaster reduces age-related decline in mobility and cardiac performanceQ27348552
A method and server for predicting damaging missense mutationsQ27860835
Domain interactions within Fzo1 oligomers are essential for mitochondrial fusionQ27935040
Mitochondrial fusion and fission in cell life and deathQ28299119
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic developmentQ28594513
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmQ29547194
The PINK1/Parkin pathway regulates mitochondrial morphologyQ29615641
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2AQ29616547
Disruption of fusion results in mitochondrial heterogeneity and dysfunctionQ29616566
The Parkinson's disease genes pink1 and parkin promote mitochondrial fission and/or inhibit fusion in DrosophilaQ29617091
Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusionQ30489225
SMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophyQ30498086
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).Q33246172
Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutationsQ33877979
Mitochondrial fusion and fission in mammalsQ34526830
Drosophila IAP antagonists form multimeric complexes to promote cell deathQ35005603
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2Q35074642
Mitochondrial fusion is essential for organelle function and cardiac homeostasisQ35613447
Most rare missense alleles are deleterious in humans: implications for complex disease and association studiesQ35752568
Molecular mechanism of mitochondrial membrane fusionQ36435011
Quality control of mitochondria: protection against neurodegeneration and ageingQ36446844
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutationsQ36692919
Loss-of-function analysis suggests that Omi/HtrA2 is not an essential component of the PINK1/PARKIN pathway in vivoQ37281615
Crumbs is required to achieve proper organ size control during Drosophila head developmentQ39238811
CPEB1, a novel gene silenced in gastric cancer: a Drosophila approach.Q39448400
Separate fusion of outer and inner mitochondrial membranes.Q40382837
Structural basis of mitochondrial tethering by mitofusin complexes.Q40527845
dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictionsQ42059080
MARF and Opa1 control mitochondrial and cardiac function in DrosophilaQ42136255
Phenotypic spectrum of MFN2 mutations in the Spanish populationQ43248484
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.Q43735166
Mitochondrial fusion protects against neurodegeneration in the cerebellum.Q45931731
A role for the COUP-TF-related gene seven-up in the diversification of cardioblast identities in the dorsal vessel of DrosophilaQ47071291
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue9
P407language of work or nameEnglishQ1860
P921main subjectpathologyQ7208
DrosophilaQ312154
Mitochondrial assembly regulatory factor Dmel_CG3869Q29820758
P304page(s)e44296
P577publication date2012-09-05
P1433published inPLOS OneQ564954
P1476titleTwo rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila
P478volume7

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cites work (P2860)
Q38661781Age-related accumulation of phosphorylated mitofusin 2 protein in retinal ganglion cells correlates with glaucoma progression
Q35137604Dissociation of mitochondrial from sarcoplasmic reticular stress in Drosophila cardiomyopathy induced by molecularly distinct mitochondrial fusion defects
Q38285228Disturbed mitochondrial dynamics and neurodegenerative disorders
Q37011991Interactions between sarco-endoplasmic reticulum and mitochondria in cardiac and skeletal muscle - pivotal roles in Ca²⁺ and reactive oxygen species signaling
Q35359238Mitochondrial contagion induced by Parkin deficiency in Drosophila hearts and its containment by suppressing mitofusin
Q28395223Mitochondrial dynamics in diabetic cardiomyopathy
Q38445626Mitochondrial dynamics: Orchestrating the journey to advanced age.
Q34399661Mitochondrial genome linearization is a causative factor for cardiomyopathy in mice and Drosophila.
Q34766553Mitofusin 2 protects hepatocyte mitochondrial function from damage induced by GCDCA.
Q36561435Parkin-mediated mitophagy directs perinatal cardiac metabolic maturation in mice
Q90718359Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway
Q90280870The tethering function of mitofusin2 controls osteoclast differentiation by modulating the Ca2+-NFATC1 axis