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The failure of AOX to rescue bang sensitivity and developmental delay in tko 25t reflects a similar finding for a second mutant affecting mitochondrial ATP production, sesB (Vartiainen et al. 2014).
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We next tested whether the changes in mitochondrial morphology associated with the Tdp-43 mutantmutaffectedcted mitochondrial function by analysing mitochondrial respiration.
Similarly, HD1 deletion or scrambling of its aa sequence severely impair fission activity of the mutant GDAP1 proteins but without affecting mitochondrial localization.
Recombinant PINK1 was previously localized to mitochondrial cristae [6] or outer membrane [19], impaired respiratory activity and oxidative stress are detectable in patient tissues, and PINK1 deficiency phenotypes in Drosophila melanogaster mutants are rescued by factors affecting mitochondrial dynamics [11], [12], [13].
These two classes of mutant – i.e. the one affecting mitochondrial protein synthesis, the other affecting intracellular nucleotide transport and synthesis – are common causes of mitochondrial disease (Saada, 2004; Sharer, 2005; Jacobs and Turnbull, 2005).
To determine whether mutant PINK1 affects mitochondrial function, we generated Flag-tagged wild type, L347P, E417G or Del 245 PINK1-adenovirus to infect human neuroblastoma SH-SY5Y cells with high efficiency.
It has not previously been well documented that mutant AR affects mitochondrial number and function.
We next examined if mutants that affect mitochondrial integrity or dynamics phenocopy the clu mutant perinuclear accumulation of αPS2 (Fig. 3F).
Mutations affecting mitochondrial genome maintenance were highly represented in sensitive mutants.
Mutations affecting mitochondrial genome maintenance and translation were highly represented in sensitive mutants in either growth phase.
5) In Figure 5, mutant-STAT3 has been used to test whether the DNA-binding ability of STAT3 is required for affecting mitochondrial membrane potential.
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