Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

scientific article

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.AJHG.2010.03.002
P932PMC publication ID2850437
P698PubMed publication ID20362274
P5875ResearchGate publication ID42974154

P50authorMassimo ZevianiQ28321912
Costanza LampertiQ28321919
Daniele GhezziQ30093362
Federica InvernizziQ42258130
Marina MoraQ47504621
Francesca NovaraQ55692638
Orsetta ZuffardiQ56721638
Graziella UzielQ80073138
P2093author name stringIrina Sevrioukova
Pio D'Adamo
P2860cites workMolecular characterization of mitochondrial apoptosis-inducing factorQ22001452
Human Na(+)/H(+) exchanger isoform 6 is found in recycling endosomes of cells, not in mitochondriaQ24293474
Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane spaceQ24298363
The crystal structure of the mouse apoptosis-inducing factor AIFQ27638885
DNA binding is required for the apoptogenic action of apoptosis inducing factorQ27639548
Redox-Linked Conformational Dynamics in Apoptosis-Inducing FactorQ27655498
AIF: not just an apoptosis-inducing factorQ28257046
AIF suppresses chemical stress-induced apoptosis and maintains the transformed state of tumor cellsQ33910919
Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathyQ34150861
The harlequin mouse mutation downregulates apoptosis-inducing factorQ34152182
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivationQ34206865
Mitochondrial diseaseQ34543745
Dissociating the dual roles of apoptosis-inducing factor in maintaining mitochondrial structure and apoptosisQ35017918
Mitochondrial fission in apoptosisQ36198122
Mitochondrial release of apoptosis-inducing factor occurs downstream of cytochrome c release in response to several proapoptotic stimuliQ36325547
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disordersQ36363369
Apoptosis-inducing factor: vital and lethalQ36452233
Eclipsed distribution: a phenomenon of dual targeting of protein and its significanceQ36875701
Mitochondrial and nuclear cross talk in cell death: parthanatosQ37348568
Batteries not included: diagnosis and management of mitochondrial disease.Q37385079
Poly(ADP-ribose) signals to mitochondrial AIF: a key event in parthanatosQ37426834
Outer mitochondrial membrane localization of apoptosis-inducing factor: mechanistic implications for releaseQ37443963
AIF deficiency compromises oxidative phosphorylationQ37671807
Calpain I induces cleavage and release of apoptosis-inducing factor from isolated mitochondriaQ45182256
Redox-dependent changes in molecular properties of mitochondrial apoptosis-inducing factorQ46155629
Cysteine protease inhibition prevents mitochondrial apoptosis-inducing factor (AIF) releaseQ46525695
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusionQ46789094
Mechanisms of AIF-mediated apoptotic DNA degradation in Caenorhabditis elegansQ47069202
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectmitochondrial encephalomyopathyQ6881866
apoptotic processQ14599311
P304page(s)639-649
P577publication date2010-04-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleSevere X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
P478volume86

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