Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.

scientific article published on 28 July 2016

Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/CDDIS.2016.160
P932PMC publication ID4973340
P698PubMed publication ID27468686

P50authorDonald D NewmeyerQ82635337
Marcela VotrubaQ56469509
Alexander Y. AndreyevQ58048217
P2093author name stringT Kuwana
Y Seong
W B Kiosses
Y Kushnareva
P2860cites workThe effect of OPA1 on mitochondrial Ca²⁺ signalingQ21135012
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypesQ24304868
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosisQ24338169
Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual functionQ80146686
Preparation, culture, and immortalization of mouse embryonic fibroblastsQ80674195
Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutationsQ84577155
Characterization of Ca2+ signalling in postnatal mouse retinal ganglion cells: involvement of OPA1 in Ca2+ clearanceQ43070109
Mitochondrial shape governs BAX-induced membrane permeabilization and apoptosis.Q43099640
Loss of the intermembrane space protein Mgm1/OPA1 induces swelling and localized constrictions along the lengths of mitochondriaQ44768454
OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.Q46113788
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusionQ46789094
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.Q48248957
Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity.Q48679280
Endoplasmic reticulum stress-induced apoptosis requires bax for commitment and Apaf-1 for execution in primary neurons.Q50913051
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritanceQ74147611
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesisQ79432048
Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosisQ24562044
Fission and selective fusion govern mitochondrial segregation and elimination by autophagyQ24652230
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of diseaseQ24679112
Endoplasmic reticulum stress induces calcium-dependent permeability transition, mitochondrial outer membrane permeabilization and apoptosisQ28240946
OPA1-dependent cristae modulation is essential for cellular adaptation to metabolic demandQ28249429
OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusionQ28251846
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in functionQ28289677
Bax activation initiates the assembly of a multimeric catalyst that facilitates Bax pore formation in mitochondrial outer membranesQ28483986
Mfn2 modulates the UPR and mitochondrial function via repression of PERKQ28589398
Disruption of fusion results in mitochondrial heterogeneity and dysfunctionQ29616566
Nonsense-mediated mRNA decay in health and diseaseQ29619553
Dominant optic atrophy.Q30459784
Opa1-mediated cristae opening is Bax/Bak and BH3 dependent, required for apoptosis, and independent of Bak oligomerizationQ30485835
Loss of OPA1 disturbs cellular calcium homeostasis and sensitizes for excitotoxicityQ30532888
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA moleculesQ33980340
Increased optic atrophy type 1 expression protects retinal ganglion cells in a mouse model of glaucomaQ34001754
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategiesQ34152110
Higd-1a interacts with Opa1 and is required for the morphological and functional integrity of mitochondriaQ34359338
Activation of mitochondrial protease OMA1 by Bax and Bak promotes cytochrome c release during apoptosisQ34384160
The dynamin-related GTPase Opa1 is required for glucose-stimulated ATP production in pancreatic beta cellsQ35083432
A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamicsQ35657086
The impact of the unfolded protein response on human diseaseQ36062081
OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instabilityQ36522684
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiencyQ37215027
Caspase-independent mitochondrial cell death results from loss of respiration, not cytotoxic protein release.Q37448270
OPA1 functions in mitochondria and dysfunctions in optic nerve.Q37457225
OPA1-associated disorders: phenotypes and pathophysiology.Q37457238
Bioenergetics and cell death.Q37774677
Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?Q37783778
Mitochondrial Cristae: Where Beauty Meets Functionality.Q38726665
The antiapoptotic OPA1/Parl couple participates in mitochondrial adaptation to heat shockQ39349684
Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophyQ39951945
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.Q40240586
Low reserve of cytochrome c oxidase capacity in vivo in the respiratory chain of a variety of human cell types.Q40993797
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P921main subjecthaploinsufficiencyQ852654
optic atrophyQ3629049
P304page(s)e2309
P577publication date2016-07-28
P1433published inCell Death and DiseaseQ2197222
P1476titleMitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency
P478volume7

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cites work (P2860)
Q41825073Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy
Q89295264Mitochondrial dynamics in adaptive and maladaptive cellular stress responses
Q57490178Overexpression of Optic Atrophy Type 1 Protects Retinal Ganglion Cells and Upregulates Parkin Expression in Experimental Glaucoma
Q92632027Phenotypic selection with an intrabody library reveals an anti-apoptotic function of PKM2 requiring Mitofusin-1
Q89558188Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy