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Functional impact of global rare copy number variation in autism spectrum disorders
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitiveExpand
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Selective Targeting of a Redox-active Ubiquinone to Mitochondria within Cells
With the recognition of the central role of mitochondria in apoptosis, there is a need to develop specific tools to manipulate mitochondrial function within cells. Here we report on the developmentExpand
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Individual common variants exert weak effects on the risk for autism spectrum disorders
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASDExpand
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Superoxide Activates Uncoupling Proteins by Generating Carbon-centered Radicals and Initiating Lipid Peroxidation
Although the physiological role of uncoupling proteins (UCPs) 2 and 3 is uncertain, their activation by superoxide and by lipid peroxidation products suggest that UCPs are central to theExpand
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Quantitation and origin of the mitochondrial membrane potential in human cells lacking mitochondrial DNA.
Mammalian mitochondrial DNA (mtDNA) encodes 13 polypeptide components of oxidative phosphorylation complexes. Consequently, cells that lack mtDNA (termed rho degrees cells) cannot maintain a membraneExpand
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Specific Modification of Mitochondrial Protein Thiols in Response to Oxidative Stress
Mitochondria play a central role in redox-linked processes in the cell through mechanisms that are thought to involve modification of specific protein thiols, but this has proved difficult to assess.Expand
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A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia
We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominantExpand
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Changes in mitochondrial membrane potential during staurosporine‐induced apoptosis in Jurkat cells
Cytochrome c release from mitochondria is central to apoptosis, but the events leading up to it are disputed. The mitochondrial membrane potential has been reported to decrease, increase or remainExpand
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The evolution of an intron: analysis of a long, deletion-prone intron in the human dystrophin gene.
The sequence of a 112-kb region of the human dystrophin (DMD/BMD) gene encompassing the deletion prone intron 7 (110 kb) and the much shorter intron 8 (1.1 kb) has been determined. RecognizableExpand
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Functional and topographical analyses of epitopes on bovine herpesvirus type 1 glycoprotein IV
SummaryBovine herpesvirus type 1 (BHV-1) glycoprotein gIV was purified by affinity chromatography. Purified preparations showed two distinct components of 71 K and 140 K following electrophoresis inExpand
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