The harlequin mouse mutation downregulates apoptosis-inducing factor

By Jeffrey A Klein, Chantal M. Longo-Guess, M. Rossmann, K. Seburn, R. Hurd, W. Frankel, R. Bronson, S. Ackerman. Nature, 2002

627 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/b668cbd69eec54c80d30bc2a0005f803ed2bd31d

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Citations in the corpus

Mitochondrial dysfunction as a cause of optic neuropathies. (2004, background): “Similarly, AIF has oxidoreductase and free radical scavenging properties in the inner mitochondrial membrane and large-scale DNA fragmentation properties when translocated into the nucleus; thus it functions as a caspase-independent pro-apoptotic factor released from mitochondria (Miramar et al., 20”
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (2006, background): “Similarly, several ataxic mouse mutants also display PC degeneration phenotypes (Hamilton et al., 1996; Fernandez-Gonzalez et al., 2002; Klein et al., 2002; Isaacs et al., 2003; Noveroske et al., 2005).”
Ways of dying: multiple pathways to apoptosis. (2003, background): “However, programmed cell death is retained in mice with minimal AIF activity (Klein et al. 2002).”
AIF deficiency compromises oxidative phosphorylation (2004, background): “These are also the clinical and biochemical signs characterizing the Harlequin mouse strain (which underexpress AIF) ( Klein et al, 2002 ), allowing for an effective reinterpretation of the Harlequin phenotype.”
Mitochondrial membrane permeabilization in cell death. (2007, background): “These mice exhibit neurodegenerative phenomena, including ataxia (due to cerebellar atrophia) and blindness (due to retinal degeneration) (390).”
Toxic proteins released from mitochondria in cell death (2004, background): “This remarkable conservation is a reflection of the NADH oxidase activity of AIF, allowing it to act as a free radical scavenger, thus, despite its name, protecting cells from cell death induced by oxidative stress (Miramar et al., 2001; Klein et al., 2002).”
The Bcl-2 family: roles in cell survival and oncogenesis (2003, background): “…2001; Parrish et al., 2001); and the contentious flavoprotein AIF, which on the one hand has been implicated in chromatin condensation and large-scale DNA degradation (Joza et al., 2001; Yu et al., 2002), but on the other in protecting neurons from peroxide-mediated apoptosis (Klein et al., 2002).”